Musculoskeletal and Rheumatology Flashcards

Question

What is Rickets?

Answer 1

Rickets results from the same underlying process but occurs in children and adolescents before the closure of the epiphyseal growth plates. This causes growth retardation and skeletal deformities.

Answer 2

- Knock-knees - Genu varum - bow legs - Craniotabes - thin, soft skull bones - Delayed closure of fontanelles - Prominent frontal bone - Protruding abdomen in severe disease - Fractures - Features of hypocalcaemia - Rachitic rosary - little bumps across the chest due to widening of junction between ribs and costal cartilage in front of the ribcage.

Answer 3

- A chronic bone disorder that is characterised by focal areas of increased bone remodelling, resulting in overgrowth of poorly organised bone. - Also known as osteitis deformans.

Answer 4

- Family history - Age >50 years - Infection

Answer 5

Usually asymptomatic at the early stages. - Pain - due to bone impinging on nerves - Growth of bones in skull can cause: - Leontiasis - lion like face - Hearing loss - narrow auditory foramen and impinge on auditor nerve - Vision loss - bony overgrowth impinges on optic nerve - Kyphosis - curved spine - Lower limb muscle weakness - due to compression of spinal cord - Pelvic asymmetry - Bone enlargement - particularly pelvis, lumbar spine, skull, femur and tibia - Bowlegs - if tibia and femur becomes too weak to support weight

Answer 6

- X-ray - ALP levels - Calcium and Phosphate levels - will be normal - Bone biopsy to rule out other malignancies

Answer 7

- Pain relief - NSAIDs - Anti-resorptive medication - Biphosphonates e.g. alendronic acid - Along with calcium and vit D supplementation - FIRST LINE - Surgery - - Correct bone deformities - Decompress impinged nerve - Decrease fracture risk

Answer 8

- Paget's sarcoma (osteosarcoma) - Spinal stenosis and spinal cord compression - Fractures - Vision loss - Hearing loss - Arthritis - High-output cardiac failure and myocardial hypertrophy

Answer 9

- Osteoarthritis is characterised by progressive synovial joint damage resulting in structural changes, pain and reduced function. It is the 'wear and tear' of joints. - Usually primary, but can be secondary to joint disease or other conditions e.g. haemochromatosis, obesity, occupational.

Answer 10

- Age - Gender → Female > Male - Raised BMI - Joint injury or trauma - Joint malalignment and congenital joint dysplasia - Genetic factors (COL2A1 collagen type 2 gene) and family history - Abnormal or excessive stress e.g. from exercise or particular occupations

Answer 11

- Heberden's nodes: swelling in distal interphalangeal joint (top finger joint) - Bouchard's nodes: swelling in proximal interphalangeal joint (middle finger joint) - Fixed flexion deformity of carpometacarpal (base of thumb) - Mucoid cysts: painful cyst found on dorsum of finger

Answer 12

- Joint pain which is worse with activity - Mechanical locking - Giving way - Joint tenderness - Joint effusion (fluid in or around joint) - Limited joint movement - stiffness - Crepitus - crunching sensation when moving joint

Answer 13

- Investigations not always needed if there is a typical presentation: - Over 45 years of age - Typical activity related pain - No morning stiffness (or morning stiffness <30 minutes)

Answer 14

- X-ray can be used to check severity and confirm diagnosis - FIRST LINE - MRI - CT - Ultrasound - Aspiration of synovial fluid - CRP may be elevated

Answer 15

- X-ray can be used to check severity and confirm diagnosis (mnemonic LOSS) - Loss of joint space - Osteophytes (bits of bone sicking out - bony overgrowth) - Subarticular sclerosis (end of bone at point of articulation is thickened) - Subchondral cysts (cysts appearing around the articulation)

Answer 16

- Rheumatoid arthritis - Chronic tophaceous gout - Psoriatic arthritis

Answer 17

- 1st line - Topical capsaicin - 2nd line - Oral paracetamol + Topical capsaicin - 3rd line - Topical NSAIDs + Oral paracetamol + topical capsaicin Other - Intra-articular steroid injection

Answer 18

- Patient education - Weight loss - Low impact exercise - Heat and cold packs at site of pain - Physiotherapy - Occupational therapy - Orthotics - helps with foot issues Other - Joint replacement (arthroplasty) e.g. hip and knee - Arthroscopy - only done if there are loose bodies causing knee lock

Answer 19

- Septic arthritis is defined as the infection of 1 or more joints caused by pathogenic inoculation of microbes. It occurs either by direct inoculation or via haematogenous spread. - It is a medical emergency.

Answer 20

- Underlying joint disease: 10-fold increased risk; conditions such as rheumatoid arthritis, osteoarthritis and gout - Intravenous drug use: transfer of pathogenic organisms into the bloodstream - Immunocompromised: elderly, diabetes, HIV - Prosthetic joint - Recent joint surgery

Answer 21

- Key presentation - Septic arthritis mainly affects one joint and so should be suspected in all monoarthritic cases. The knee is most commonly affected, but hip, shoulder, wrist and elbow joints are also affected. - Hot, tender, erythematous, swollen joint - In the elderly and immunosuppressed and in RA the articular signs may be muted - Very limited range of movement - Difficulty weight bearing - Fever

Answer 22

- Gold standard - Joint aspiration - MSC First line - FBC - CRP and ESR - Blood cultures Other - Joint imaging

Answer 23

- Gout - Pseudogout - Reactive arthritis - Hemarthrosis

Answer 24

- Empirical therapy: flucloxacillin is first-line - Penicillin allergy: clindamycin - Suspected or confirmed MRSA: vancomycin - Gonococcal arthritis or gram-negative infection: cefotaxime or ceftriaxone - Joint drainage

Answer 25

- Osteomyelitis: the spread of infection from the joint to the surrounding bone - Permanent joint destruction - Sepsis

Answer 26

- Polymyositis and dermatomyositis are autoimmune disorders where there is inflammation in the muscles - Polymyositis- chronic inflammation of the muscles - Dermatomyositis- CT disorder where there is chronic inflammation of the skin and muscles

Answer 27

- Viruses - Genetic predisposition. - Drug induced. - Malignancy.

Answer 28

- Muscle pain, fatigue and weakness - Occur bilaterally and typically affects proximal muscles - Mostly affects shoulders and pelvic girdle - Develops over weeks - Polymyositis is without skin features, whereas dermatomyositis involves skin too.

Answer 29

- Symmetrical progressive muscle weakness and wasting of proximal muscles surrounding the shoulder and pelvic girdle. - Patients have issues squatting, going upstairs, rising from chair, raising their hand above head. - Involvement of pharyngeal, laryngeal and respiratory muscles can lead to dysphagia, dysphonia (difficulty speaking) and respiratory failure.

Answer 30

- Skin changes: Heliotrope discolouration of eyelids, scaly erythematous plaques over knuckles (Gottron’s papuples). - Arthralgia, dysphagia resulting from oesophageal muscle involvement and Raynaud’s phenomenon. - Associated with an increased incidence of underlying malignancy.

Answer 31

- Muscle biopsy - gold standard. - Serum creatinine kinase will be elevated. - Serum aldolase will be elevated. - Antibodies: - Anti-Jo-1 - polymyositis (but often present in dermatomyositis). - Anti-Mi-2 - dermatomyositis. - Anti-nuclear - dermatomyositis. - Electromyogram (EMG) → Not essential but recommended for patients.

Answer 32

- Corticosteroids → First line treatment. - When response to steroids is inadequate: - Immunosuppressants e.g. Azathioprine - IV immunoglobulins - Biological therapy e.g. Infliximad or Etanercept.

Answer 33

Fibromyalgia is a chronic pain syndrome characterised by the presence of widespread body pain.

Answer 34

- Gender → Female > Male - Middle age - Genetic association - Environmental e.g. child abuse, low household income, divorced, low educational status, emotional problems, social withdrawal

Answer 35

- Allodynia - pain in response to non-painful stimulus - Hyperaesthesia - exaggerated perception of pain to mildly painful stimulus

Answer 36

- Widespread pain - Aggravated by stress, cold and activity - Extreme tenderness - Sleep disturbance - Fatigue - extreme and present after minimal exertion - Morning stiffness - Paraesthesia - abnormal sensation in skin - Headaches - Poor concentration - Low mood

Answer 37

Investigations are all normal. - Diagnosis of fibromyalgia is based on clinical features: - Chronic pain that has been present for at least 3 months - Widespread pain - involved left and right sides, above and below waist, and the axial skeleton. - Palpate tender point sites - severe pain in 3 to 6 different areas of your body, or you have milder pain in 7 or more different areas - No other reason for symptoms has been found

Answer 38

- Thyroid function test (to exclude hypothyroidism) - ANA’s and DsDNA (to exclude SLE) - ESR & CRP (to exclude PMR) - Ca2+ and electrolytes (to exclude high calcium) - Vit D (to exclude low vitamin D) - Examine patient and CRP (to exclude inflammatory arthritis)

Answer 39

- Rheumatoid arthritis - Chronic fatigue syndrome - Hypothyroidism - SLE - Polymyalgia rheumatica (PMR) - High calcium - Low vitamin D - Inflammatory arthritis

Answer 40

- Regular exercise like cardiovascular fitness training which includes fast walking, biking, swimming, or water aerobics can help by reducing pain and fatigue. Grading of exercise is important to avoid over-exertion and fatigue. - Relaxation techniques and good sleep hygiene can also help. - Physiotherapy and rehabilitation - CBT

Answer 41

- Amitriptyline - tricyclic antidepressant - Serotonin-norepinephrine reuptake inhibitors (SNRIs) e.g. duloxetine - Help by elevating serotonin and norepinephrine levels. - Anticonvulsants like pregabalin and gabapentin which slow nerve impulses can help with sleep problems. - Cyclobenzaprine - induce muscle relaxation.

Answer 42

An inflammatory rheumatological syndrome that manifests as pain and morning stiffness involving the neck, shoulder girdle, and/or pelvic girdle in people over the age of 50.

Answer 43

- SLE. - Polymyositis/dermatomyositis. - Gender → Female > Male. - More common in Caucasians. - Associated with Giant cell arteritis - most often both occur together.

Answer 44

- Symptoms must be present for at least two weeks: - Bilateral shoulder pain - may radiate to elbow. - Bilateral pelvic girdle pain. - Worse with movement. - Interferes with sleep (symptoms are worse in morning and night). - Stiffness for at least 45 mins in the morning. - Other non-core features: - Systemic symptoms: fever, weight loss, loss of appetite. - Upper arm tenderness. - Carpal tunnel syndrome. - Pitting oedema.

Answer 45

- Diagnosis is made based upon clinical presentation and the response to steroids. Other conditions must be concluded. - Inflammatory markers - elevated (normal does not exclude diagnosis) - There is ususally little damage to muscles - Creatinine kinase - Normal

Answer 46

- FBC - U&Es - LFTs - Calcium - raised in hyperparathyroidism or cancer or low in osteomalacia. - Serum protein electrophoresis - myeloma and other protein disorders. - Thyroid stimulating hormone - thyroid function. - Creatine kinase - myositis. - Rheumatoid factor - rheumatoid arthritis. - Urine dipstick. - Anti-nuclear antibodies (ANA) for systemic lupus erythematosus. - Anti-cyclic citrullinated peptide (anti-CCP) for rheumatoid arthritis. - Urine Bence Jones protein for myeloma. - Chest X-ray for lung and mediastinal abnormalities.

Answer 47

- Osteoarthritis - Rheumatoid arthirits - Systemic lupus erythematosus - Myositis (from conditions like polymyositis or medications like statins) - Cervical spondylosis - Adhesive capsulitis of both shoulders - Hyper or hypothyroidism - Osteomalacia - Fibromyalgia

Answer 48

- Initially - 15mg prednisolone per day. - Assess 1 week after steroids, if poor response in symptoms then it probably is not PMR and look for alternative diagnosis. Stop steroids. - Assess 3-4 weeks after starting steroids. You would expect a 70% improvement in symptoms and inflammatory markers to return to normal to make a working diagnosis of PMR. - If 3-4 weeks of steroids has given a good response then start a reducing regime with the aim of getting the patient off steroids.

Answer 49

- DON’T – Make them aware that they will become steroid dependent after 3 weeks of treatment and should not stop taking the steroids due to the risk of adrenal crisis if steroids are abruptly withdrawn - S – Sick Day Rules: Discuss increasing the steroid dose if they become unwell (“sick day rules") - T – Treatment Card: Provide a steroid treatment card to alert others that they are steroid dependent in case they become unresponsive - O – Osteoporosis prevention: Consider osteoporosis prophylaxis whilst on steroids with bisphosphonates and calcium and vitamin D supplements - P – Proton pump inhibitor: Consider gastric protection with a proton pump inhibitor (e.g. omeprazole)

Answer 50

- A systemic autoimmune disorder affecting the exocrine glands resulting in dry mucosal surfaces, especially the lacrimal, vaginal and salivary glands. - Primary Sjogren’s is where the condition occurs in isoloation. - Secondary Sjogren’s ****is where it occurs related to SLE or Rheumatoid arthritis.

Answer 51

- Gender → Female > Male - SLE - Rheumatoid Arthritis - Systemic Sclerosis - HLA class 2 marker - Age → Peaks in 20s to 30s and then again after menopause

Answer 52

- Fatigue. - Dry eyes: Keratoconjunctivitis Sicca. - Inflammation of cornea and conjunctiva. - Blurring of vision, itchiness, redness and burning. - Dry mouth: Xerostomia. - Difficulty tasting and swallowing. - Cracks and Fissures in the mouth. - Vaginal dryness. - Vasculitis - most common beyond exocrine glands. - Dental caries - severe and may lead to loss of all teeth. - Arthralgia - Raynaud’s, Myalgia - Sensory Polyneuropathy - Recurrent Episodes of Parotitis - Renal tubular acidosis (usually subclinical)

Answer 53

- Schirmer’s test - Involves inserting a folded piece of filter paper under the lower eyelid with a strip hanging out over the eyelid - This is left in for 5 minutes and the distance along the strip hanging out that becomes moist is measured - The tears should travel 15mm in a healthy young adult. - A result of less than 10mm is significant. - Anti-RO and Anti-LA found in 90% of patients with Sjogren’s - not specific found in other conditions e.g. Lupus

Answer 54

- SLE - Rheumatoid arthritis - Hep C - System sclerosis

Answer 55

- Artificial tears - Artificial saliva - Vaginal lubricants - Hydroxychloroquine is used to halt the progression of the disease. Additional presentations - Vasculitis → Corticosteroids. - Renal tubular acidosis → Potassium repletion. - Neuropathy → IV immunoglobulins.

Answer 56

- Eye infections - Dental cavities and candida infections - Vaginal problems: candidiasis and sexual dysfunction - Very rare causes: - Pneumonia and bronchiectasis - Non-Hodgkins lymphoma - Peripheral neuropathy - Vasculitis - Renal impairment.

Answer 57

Antiphospholipid syndrome is the association of antiphospholipid antibodies (lupus anticoagulant, anticardiolipin antibody, and/or anti-beta2-glycoprotein I) with a variety of clinical features characterised by thromboses (arterial and venous) and pregnancy-related morbidity.

Answer 58

- Thrombosis - Miscarriage - Livedo-reticularis - Thrombocytopenia - Ischaemic stroke, TIA, MI - arteries - Deep vein thrombosis, Budd-chiari syndrome - veins - Valvular heart disease, migraines, epilepsy

Answer 59

A persistently positive test (positive on at least two occasions more than 12 weeks apart) in one or more of these tests, along with clinical features is needed to diagnose APS - Anticardiolipin test - Lupus anticoagulant test - Anti-B2-glycoprotein I test - Antinuclear antibody, double stranded DNA -> +ive in SLE

Answer 60

- Low-molecular weight Heparin e.g. Dalteparin or Enoxaparin - FIRST LINE - Long term warfarin to minimise thrombosis - contraindicated for pregnancy - Prophylaxis: - Aspirin or Clopidogrel for people with aPL, especially those with a high IgG aPL

Answer 61

- Also known as systemic sclerosis. - A multi-system autoimmune disease characterised by functional and structural abnormalities of small blood vessels, fibrosis of skin and internal organs and prosecution of auto-antibodies.

Answer 62

- First symptoms are usually seen in the fingers: - Skin becomes tight. - Fingers become stiff and inflexible. - Symptoms of Raynaud’s (fingers turn cold and blue in response to minor triggers).

Answer 63

- Later features: - Tightening of skin elsewhere (notably on the face) - Tightening around the lips, shrinking the opening to the mouth - General fatigue - Joint and muscle pain - Ulceration secondary to skin tightening so much it tears and cannot heal - Vascular disease, including coronary artery disease - Pulmonary fibrosis - Pulmonary artery hypertension (PAH) - Renal failure (“scleroderma renal crisis”)

Answer 64

- Serum autoantibodies - positive ANAs in >90% of patients. - FBC - U&E - ESR/CRP - Complete pulmonary function tests - ECG - CXR - Barium swallow. - Could be done for exclusion of differentials or extent of current damage.

Answer 65

- Goals of treatment are based on distribution of organ involvement. - No cure, disease is generally progressive. - Immunosuppressants are used to slow disease progression. - Symptomatic treatment - Raynaud’s phenomenon - Hand warms - Calcium channel blockers e.g. Nifedipine. - Endothelia receptor antagonist. - Topical skin emollients. - ACE inhibitors → prevention of renal crisis. - Nutritional supplements - Malabsorption.

Answer 66

Limited Cutaneous Systemic Scleroderma (CREST Syndrome) - C - CALCINOSIS - hard, calcified nodules under the skin - R - RAYNAUD’S PHENOMENON - E - ESOPHAGEAL DYSMOTILITY - S - SCLERODACTYLY - thickening of the skin of the hands and feet - T - TELANGIECTASIA - spider veins

Answer 67

- Intervertebral disk disease is a common condition characterised by the breakdown (degeneration) of one or more of the discs that separate the bones of the spine (vertebra), causing pain in the back or neck and frequently in the legs and arms. - Discs in the lower lumbar spine are most commonly affected.

Answer 68

Progressive intervertebral disc breakdown leading to prolapse of the intervertebral disc resulting in acute back pain (lumbago).

Answer 69

- Genetic predisposition - Advanced age - Menopause - Repeated spinal trauma

Answer 70

- Sudden onset of severe back pain → often following a strenuous activity. - Decreased range of motion. - Tingling, paraesthesia and numbness. - Muscle weakness and atrophy. - Muscle spasm leads to a sideways tilt when standing. - Decreased tendon reflexes. - The radiation of the pain and the clinical findings depends on the disc affected → the lower three discs are most commonly affected. - Headaches, dizziness, vertigo

Answer 71

- Pain would be located in the buttock down the back of the thigh to the ankle/foot. - Ankle jerk reflex would be lost. - There would be diminished straight leg raising.

Answer 72

- Pain would be located in the buttock to the lateral aspect of the leg and the top of the foot. - No reflex lost. - There would be diminished straight leg raising.

Answer 73

- Pain would be located in the lateral aspect of the thigh to the medial side of the calf. - Knee jerk reflex is lost. - There is a positive femoral stretch test.

Answer 74

- X-Rays are often normal - however can detect fracture. - MRI - Evaluates spinal canal - Detects annular tears - Increased signal may indicate disc dehydration - If surgery is being considered

Answer 75

- Acute stage - Bed rest on a firm mattress and analgesia (NSAIDs) and local/epidural corticosteroid injection (severe disease). - Surgery only for severe or increasing neurological impairment e.g. foot drop or bladder symptoms. - Corpectomy - vertebral portion removed to enlarge intervertebral space. - Discectomy - herniated disc portion removed. - Nerve root injection. - Intervertebral disc arthroplasty - replacement with artificial discs - Laminotomy - lamina removal to relieve nerve root pressure. - Recovery phase - Physiotherapy to help correct posture and restore movement.

Answer 76

- Spine collapse - Disc herniation - Compression fracture - Bony spur growth - Neurological deficit - Myelopathy - Vertebral artery compression

Answer 77

Associated with degenerative disc changes in the lower lumbar discs and facet joints (joining the vertebral bones together).

Answer 78

- Pain is usually of the mechanical type i.e. aggravated by movement. - Sciatic radiation may occur with pain in the buttocks radiating into the posterior thigh. - Usually the pain is long-standing and there is no cure.

Answer 79

- NSAIDs, physiotherapy and weight reduction may be useful. - Surgery can be done when pain arises from a single identifiable level → fusion at this level with decompression of the affected nerve root.

Answer 80

Osteoarthritis of the spine, which includes the spontaneous degeneration of either disc or facet joints.

Answer 81

- Limited neck movement - Neck flexion may produce tingling down the spine (Lhermitte’s sign) - does not differentiate between a cord or a rot issue. - Root compression presents with: - Pain in arms or fingers at the level of the compression, with numbness and dull reflexes. - Lower motor neurone weakness and wasting of the muscles innervated by the affected root. - Weak clumsy hands. - Gait disturbance .

Answer 82

- Neck stiffness - Crepitis (crunching) on moving the neck. - Stabbing or dull arm pain. - Forearm / wrist pain.

Answer 83

- Weak deltoid and supraspinatus. - Decrease supinator jerks - Numb elbow - Pain in neck and shoulders that radiates down the front of the arm to the elbow.

Answer 84

- Weak biceps and brachioradialis. - Decreased bicep jerk - Numb thumb and index finger - Pain in the shoulder which radiates down to the arm and the elbow.

Answer 85

- Weak triceps and finger extension - Decreased triceps jerk - Numb middle finger - Pain in upper arm and dorsal forearm

Answer 86

- Weak finger flexors and in the small muscles of the hand - Number 5th and ring finger - Pain in upper arm and medial forearm

Answer 87

- Analgesia - Encourage gentle activity - Cervical collars for brief painful episodes - If no improvement consider: - Epidural - Surgical decompression

Answer 88

Mechanical means that the source of the pain may be in your spinal joints, discs, vertebrae, or soft tissues.

Answer 89

- Gender → Female > Male - Increasing age - Pre-existing chronic widespread pain - fibromyalgia - Psychosocial factors e.g. high levels of psychosocial distress, poor self-related health, smoking and dissatisfaction with work.

Answer 90

- Variety of presentations depending on pathology: - Back is stiff - Scoliosis (spine twists and curves to a side) may be present when patient is standing - Muscular spasm is visible and palpable and causes local pain and tenderness - lessens when sitting or lying - Pain is often unilateral (but can be bilateral) and helped by rest - Pain usually worse in the evening - Exercise aggravates pain - Morning stiffness is absent - Sudden onset - Episodes are generally short-lived and self-limiting - but high chance of recurrence once individual has experienced one episode

Answer 91

- MRI - imagine modality of choice. - Bone scans - Examine patient to exclude pathologies e.g. nerve root lesions affecting reflexes - Spinal X-rays - ONLY done if there are red flags for serious pathology. - Arrange specific tests if pathology suspected...

Answer 92

- Age of onset <20 or >55 yrs - Acute onset in elderly people - Constant or progressive pain - Nocturnal pain - Worse pain on being supine - Fever, night sweats, weight loss - History of malignancy - Abdominal mass - Thoracic back pain - Morning stiffness - Bilateral or alternating leg pain (points to cauda equina compression, can lead to bladder and bowel incontinence- a surgical emergency!) - Neurological disturbance e.g. sciatica - Sphincter disturbance (may signify acute cord compression!) - Current or recent infection - Immunosuppression e.g. steroids or HIV - Leg claudication or exercise-related leg weakness/ numbness (spinal stenosis) - Violent trauma e.g. fall from height or road traffic accident (RTA)

Answer 93

- Polymyalgia rheumatica (PMR): in elderly, ESR and CRP will distinguish this from mechanical back pain - Sinister causes of back pain e.g. malignancy, infection or inflammatory causes. Must be excluded with spinal x-ray.

Answer 94

- Analgesia e.g. paracetamol, NSAIDs, codeine - Consider low dose amitriptyline or duloxetine if these fail. - Combined with physiotherapy and exercise programmes, if no improvement seen. - Acupuncture may be considered - Patient should avoid excessive rest - Address psychosocial issues - Re-education in lifting and exercises to prevent further attacks of pain - Comfortable sleeping position using a mattress of medium (not hard) firmness

Answer 95

- Refer to pain clinic or surgical options for any intractable symptoms - Urgent referral if any neurosurgical emergencies identified e.g. acute cord compression or acute cauda equina compression - Treatment may involve laminectomy, radiotherapy, decompression.

Answer 96

- Muscular dystrophy is an umbrella term for genetic conditions that cause gradual weakening and wasting of muscles. - The main type of muscular dystrophy is Duchenne's muscular dystrophy.

Answer 97

- Duchenne’s muscular dystrophy - Becker's muscular dystrophy - Myotonic dystrophy - Facioscapulo-humeral muscular dystrophy - Oculo-pharyngeal muscular dystrophy - Limb-girdle muscular dystrophy - Emery-Dreifuss muscular dystrophy

Answer 98

- Usually presents around 3 – 5 years - Weakness in the muscles around pelvis. The weakness tends to be progressive and eventually all muscles will be affected. - Children start walking later than average - Waddling gait - Tend to develop calf pseudohypertrophy: visibly enlarged calves which are large because of fat and fibrotic tissue rather than muscle tissue. - Usually wheelchair bound by their teenager years - Gowers sign

Answer 99

- Usually presents around 8 – 12 years - Similar presentation to Duchennes - Some patient require wheelchairs in their late 20s or 30s. Others able to walk with assistance into later adulthood.

Answer 100

- Usually presents in adulthood - Progressive muscle weakness - Prolonged muscle contractions - Cataracts - Cardiac arrhythmias

Answer 101

- Usually presents in childhood - Weakness around the face, progressing to the shoulders and arms - Sleeping with eyes slightly open - Weakness in pursing their lips - Inability to blow their cheeks out without air leaking from their mouth - Foot drop - Scapular winging (shoulder blade sticks out) - Scoliosis - Anterior axillary folds - Horizontal clavicles - Usually need wheelchair by age 40

Answer 102

- Usually presents in late adulthood - Weakness of the ocular muscles (around the eyes) - Bilateral ptosis and restricted eye movement - Weakness of the pharynx (around the throat) - Swallowing problems - Muscles around the limb girdles are also affected to varying degrees

Answer 103

- Usually presents in teenage years - Progressive weakness around the limb girdles (hips and shoulders)

Answer 104

- Usually presents in childhood - Contractures, most commonly in the elbows and ankles. Contractures are shortening of muscles and tendons that restrict the range of movement in limbs - Progressive weakness and wasting of muscles, starting with the upper arms and lower legs

Answer 105

GOLD STANDARD - Genetic testing: diagnosis can be confirmed by looking for mutations in dystrophin - High creatine kinase level - Muscle biopsy: staining for dystrophin - Electromyogram: distinguish between neuropathic and myopathic pathology - Gait assessment - Muscle strength test

Answer 106

*No curative treatment for muscular dystrophy. Management is aimed at allowing the person to have the highest quality of life for the longest time possible.* - Occupational therapy - Physiotherapy - Medical appliances (such as wheelchairs and braces) - Surgical and medical management of complications e.g. spinal scoliosis and heart failure. - Oral steroids have been shown to slow the progression of muscle weakness - Creatine supplementation can give a slight improvement in muscle strength - Genetic counselling for patients who want to have children

Answer 107

- Respiratory failure because of a weak diaphragm - Scoliosis - Dilated cardiomyopathy and arrhythmias: dystrophin protein is also expressed in heart muscle.

Answer 108

A genetic disorder that results in defective connective tissue. This can affect the skeleton, heart, blood vessels, eyes and lungs.

Answer 109

- Features may not always be present and will vary in severity. Symptoms show with age, but there may sometimes be symptoms present at birth (early onset). - Tall stature, long arms and long legs due to excessive long bone growth - Arachnodactyly - long fingers and toes - Pectus excavatum (chest sinks in) or pectus carinatum (chest points out) - Scoliosis - Inability to extend elbows to 180 degrees - Flexible joints (hypermobility) - Downward slant of the eyes - Narrow high-arch palate - crowds teeth - Stretch marks

Answer 110

*Diagnosis is based on clinical features (diagnose if >2 features)* - Lens dislocation - Aortic dissection/ dilation - Dural ectasia - widening of the dural sac - Skeletal features e.g. long arms, arachnodactyly - Pectus deformity - Scoliosis - Pes planus - flat feet Other - MRI for Dural ectasia

Answer 111

- Ehlers-Danlos syndrome - Erdheim's deformity - presents with dilation of aortic root - Homocystinuria - body cannot process amino acids properly. Presents similar to Marfan syndrome

Answer 112

- General - Physiotherapy can be helpful in strengthening joints and reducing symptoms arising from hypermobility. - Genetic counselling is important in considering the implications of having children that may be affected by the condition - Eye-related - Replacement of dislocated lens with artificial lens - Cardiovascular-related - Lifestyle changes, such as avoiding intense exercise and avoiding caffeine and other stimulants - minimise stress to help cardiac complications - Beta blockers can also be used to stop aortic dilation - Angiotensin receptor blocker e.g. losartan - decreases tgf-beta signalling and can also decrease aortic dilation - Surgical repair of wide aorta.

Answer 113

- Retinal detachment and lens dislocation - Joint dislocations and pain due to hypermobility - Bulla formation on lungs - leading to pneumothorax - Cardiovascular: - Aortic dilation causing aortic valve insufficiency - Cystic medial necrosis (tunica media of aortic wall degenerates) - Increased risk of aortic dissection, aneurysm and rupture - Mitral valve prolapse - Aortic valve prolapse

Answer 114

- Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders caused by mutations of connective tissue proteins, with collagen being the most commonly affected.

Answer 115

Family history (most common subtypes are autosomal dominant)

Answer 116

- Musculoskeletal - Joint hypermobility and pain - Recurrent dislocation - Scoliosis and spinal pain - Skin - Hyper-elasticity - Easy bruising - Atrophic skin

Answer 117

- Beighton score is used to assess the extend of hypermobility. Used for a clinical diagnosis. - Examine joints and skin - Genetic testing to identify mutation - Echocardiogram - Spine X-ray

Answer 118

- Supportive care: - Physiotherapy - Orthopaedic instrument e.g. bracing, wheelchair and casting - Lifestyle advice: avoid contact sports and heavy labour to reduce the risk of tissue damage and joint dislocation - Analgesia - Psychological input: due to chronic pain and the impact on quality of life, patients may develop mental illness

Answer 119

- Cardiovascular - Mitral valve prolapse: mid-systolic click and late-systolic murmur - Aortic dissection - Abdominal aortic aneurysms - Organ rupture - Other - Subarachnoid haemorrhage - Angioid retinal streaks - Abdominal hernia - Gastro-oesophageal reflux disease - Degenerative arthritis due to recurrent joint dislocation - Depression and anxiety

Answer 120

- Rheumatoid arthritis (RA) is a chronic, systemic inflammatory disease. - This leads to a deforming, symmetrical inflammatory arthritis of the small joints which progresses to involve larger joints and other organs of the body, e.g. skin and lungs.

Answer 121

- Gender → Female > Male - Age → Peak incidence of onset between 50-60 years old - Smoking - Family history - Infections - Hormones: increased risk post-menopause, potentially due to a reduction in oestrogen levels

Answer 122

- Symmetrical polyarthritis: (on both sides of body) - Swollen, warm and tender small joints of the hands and feet (MCP, PIP, MTP) - Progresses to larger joints (shoulder, elbow, knee, ankle) - Boutonniere deformity: PIP flexion and DIP hyperextension - Swan-neck deformity: PIP hyperextension and DIP flexion - Z-thumb deformity: hyperextension of the thumb IP joint with flexion of the MCP joint. - Ulnar deviation of the fingers - Popliteal cyst: synovial sac bulges posteriorly to the knee - Rheumatoid nodules - lumps that can appear under skin and other areas e.g. lungs, hearts, eye

Answer 123

- Morning stiffness: > 30 mins and improves throughout the day - Malaise - Myalgia - Low-grade fever

Answer 124

- Morning stiffness: > 30 mins and improves throughout the day - Malaise - Myalgia - Low-grade fever

Answer 125

- ESR and CRP - Rheumatoid factor: present in 70% of patients - Anti-cyclic citrullinated peptide (anti-CCP): present in 80% of patients - Joint X-rays: X-rays of the affected joints can aid diagnosis - US and MRI can also be used.

Answer 126

A score of 6 or over/ 10 needed for diagnosis of RA. - 1 large joint - 0 - 2-10 large joints - 1 - 1-3 small joints - 2 - 5-10 small joints - 3 - >10 joints (>1 small) - 5 - Negative RF and anti-CCP - 0 - Low RF or anti-CCP - 2 - High RF or anti-CCP - 3 - Normal CRP and ESR - 0 - Abnormal CRP and ESR - 1 - <6 weeks - 0 - >6 weeks - 1

Answer 127

- Psoriatic arthritis - Infectious arthritis - Gout - SLE - Osteoarthritis

Answer 128

- NSAID: low dose NSAID (e.g. ibuprofen) to cover the period between symptom onset and rheumatology referral - Refer to specialist care - Physiotherapy and occupational therapy

Answer 129

- FIRST LINE - DMARD e.g. Methotrexate, Leflunomide, Sulfasalazine, Hydroxychloroquine - Biologics e.g. Abatacept, Rituximab, Etanercept, Infliximab - NSAIDs and Glucocorticoids for management of flares.

Answer 130

- FBC, LFTs and U&Es measured weekly until therapy stabilised, and 2-3 monthly thereafter - CRP is measured monthly as well as disease activity (DAS-28 score) - Also do an annual assessment

Answer 131

- Rheumatoid nodules - Keratoconjunctivitis sicca - Episcleritis - Scleritis - Corneal ulceration - Keratitis - Pulmonary nodules - Pleurisy - Pleural effusion - Interstitial lung disease - Caplan’s syndrome: lung nodules with occupational coal exposure - Bronchiolitis obliterans - Bronchiectasis - Anaemia of chronic disease - Atlanto-axial subluxation - Tendon rupture - Carpal tunnel syndrome - Secondary amyloidosis - Felty's syndrome

Answer 132

Gout is an inflammatory arthritis caused by deposition of monosodium urate crystals within joints, most commonly the first metatarsophalangeal joint (MTP).

Answer 133

- Incidence increases with age. Peak incidence between 40-60 years old. - Gender → Male > Female - Post-menopausal women - Family history of gout - Diet high in purines - Alcohol consumption - Diuretics - Impaired renal function - DM - high insulin levels lower urate excretion - Ischaemic heart disease and hypertension

Answer 134

- Joint inflammation: tenderness, erythema and swelling - Mainly monoarticular but can be oligoarticular (≤ 4 joints): - 1st MTP most commonly affected in a first presentation (70%); previously known as podagra - The ankle, wrist, knee and small joints of the hand are also commonly affected - Gouty tophi: nodular masses of urate crystals form under the skin, usually as a late complication - Usually affect fingers, ears, and elbows

Answer 135

- Red, tender, hot, and swollen joint. - Joint stiffness - Rapid onset severe joint pain

Answer 136

- Joint aspiration: needle-shaped crystals with negative birefringence under polarised microscopy confirm the diagnosis. - Serum urate - Joint X-ray - often normal

Answer 137

- Septic arthritis - Reactive arthritis - Haemarthrosis - Calcium pyrophosphate deposition - Rheumatoid arthritis

Answer 138

Acute management - NSAIDs - FIRST LINE - Colchicine when above is contraindicated. - Corticosteroids - SECOND LINE - Ice and rest

Answer 139

- Lifestyle advice - food low in purine, lose weight, avoid alcohol - Xanthine oxidase inhibitors - reduces uric acid - Allopurinol - 1st line - Febuxostat - 2nd line - Uricosuric agent - e.g. sulfinpyrazone, probenecid, benzbromarone can be used if xanthine oxidase inhibitor not working.

Answer 140

Urate nephrolithiasis: there is an association between gout and urate renal stones due to hyperuricaemia

Answer 141

- Also known as Pseudogout. - Pseudogout is a form of inflammatory arthritis caused by deposition of calcium pyrophosphate crystals in the synovium.

Answer 142

- Increasing age: the greatest known risk factor for pseudogout - Females over 70 years old - Previous joint trauma - Hyperparathyroidism - Haemochromatosis - Acromegaly - Wilson's disease - Hypomagnesaemia - Hypophosphatemia

Answer 143

- Joint inflammation: pain, erythema and swelling - Signs can be monoarticular (1 joint) or polyarticular (several joints)

Answer 144

- Rapid onset severe joint pain: knee, shoulder and wrist are most commonly affected - Joint stiffness

Answer 145

- Joint aspiration: weakly-positively birefringent rhomboid-shaped crystals confirms diagnosis. - Joint X-ray - chondrocalcinosis is seen in 40% of cases.

Answer 146

- Gout - Septic arthritis - Rheumatoid arthritis - Osteoarthritis

Answer 147

Acute - Anti-inflammatory: NSAIDs or colchicine, particularly in polyarticular disease - Corticosteroids Chronic - DMARDs: e.g. methotrexate and hydroxychloroquine

Answer 148

Damage to the joint and loss of function over time.

Answer 149

- Ankylosing spondylitis (AS) is a chronic progressive inflammatory arthropathy. Mainly affects the spine and causes progressive stiffness and pain. - Ankylosis = abnormal stiffening and immobility of joint due to fusion of bones

Answer 150

- HLA-B27 positive - Family history of ankylosing spondylitis - Gender → Male (3x) > Female

Answer 151

- Affects sacroiliac joint and joints of vertebral column. Asymmetrical joint pain - normally oligoarthritic (1 or 2 joints) - Symptoms present over 3 months. Symptoms will fluctuate with flares and periods of improvement.

Answer 152

- Enthesitis - inflammation at point of insertion of tendons and ligaments in bones - Dactylitis - inflammation of entire digit - Bamboo spine on x-ray due to fusion of the joints

Answer 153

- Pain and stiffness of joints - Lower back pain - Sacroiliac pain (buttock region) - Pain worst at night and in the morning (>30 minutes of stiffness in morning) - Pain worst with rest and improves with movement - Systemic symptoms e.g. weight loss and fatigue - Chest pain - related to costovertebral and costosternal joints - Investigations

Answer 154

- FBC - CRP and ESR - Genetic testing for HLA-B27 - X-ray of spine and sarcum - Bamboo spine - Squaring of vertebral bodies - Subchondral sclerosis - Subchondral erosions - Syndesmophytes - Ossification - Fusion - MRI of spine if x-ray is normal

Answer 155

- General examination of spine (especially lumbar spine) to assess mobility. - Patient stands straight. Find L5 vertebrae and mark a point 10cm above this and 5cm below. Ask patient to bend forward, and measure distance between two points. - If distance between the two points is less than 20cm, this indicates restriction in the lumbar movements.

Answer 156

- Osteoarthritis - Psoriatic arthritis - Reactive arthritis - Vertebral fracture

Answer 157

- NSAIDs e.g. ibuprofen or naproxen - Steroids - used during flares - Anti-TNF e.g. etanercept or monoclonal antibodies against TNF e.g. infliximab, adalimumab - Monoclonal antibodies targeting IL-7 - e.g. Secukinumab - Physiotherapy - Lifestyle changes - smoking - Bisphosphonates - Surgery for fractures

Answer 158

- Vertebral fractures - Osteoporosis - Anaemia - Anterior uveitis (eye inflammation) - Aortitis (inflammation of aorta) - Heart block - fibrosis of the heart conduction system - Restrictive lung disease - due to restrictive movement of chest wall - Pulmonary fibrosis - especially upper lobes of lungs - Inflammatory bowel disease

Answer 159

Psoriatic arthritis is a chronic inflammatory joint disease associated with psoriasis, although it can occur without arthritis.

Answer 160

- Psoriasis - Family history of psoriasis or psoriatic arthritis

Answer 161

- Joint tenderness, warmth and reduced range of motion - Typically affects DIP joints, rather than MCP/PIP joints in rheumatoid arthritis - Dactylitis: swelling of an entire digit - Enthesitis: inflammation of the plantar fascia and Achilles’ tendon (back of foot) - Psoriasis: psoriatic lesions, scalp and nail symptoms (pitting of nails, onycholisis - separation of nail from nail bed)

Answer 162

- Joint pain and stiffness: - Symptoms worse in the morning and improve on movement is typical of an inflammatory arthropathic - Swollen fingers or toes - Back pain if axial skeleton involved

Answer 163

- Most severe and least common form of psoriatic arthritis. - Deforming and destructive subtype - Occurs in the digits - Osteolysis around the phalynxes - Skin around the bones, folds in on itself as the bones get shorter (telescopic finger)

Answer 164

- Symmetrical polyarthritis. - Asymmetric oligoarthritis - Distal arthritis - Spondlyoarthritis - Arthritis mutilans

Answer 165

- CRP and ESR - normal - RF - negative - anti-CCP - negative - Joint aspiration - no bacteria or crystals - X-ray - Erosion - Osteomyelitis - Pencil-in-cup deformity - Dactylitis - Periostitis

Answer 166

CASPAR criteria: diagnosis of psoriatic arthritis can be made if the patient scores > 2 points on the following: - History of psoriasis (2) - Psoriatic nail changes (1) - Rheumatoid factor negative (1) - History of dactylitis (1) - Radiological evidence (1)

Answer 167

- Rheumatoid arthritis - Gout - Reactive arthritis - Erosive osteoarthritis

Answer 168

- NSAIDs and physiotherapy: first-line options to reduce inflammation, improve range of motion and strengthen muscles - Intra-articular steroids - for intra-articular synovitis - DMARDs - methotrexate or sulfasalazine - Biologic agents: TNF-α inhibitors, such as etanercept or infliximab - Ustekinumab - used to treat psoriasis

Answer 169

- Cardiovascular: ischemic heart disease and hypertension. - Aortitis - Amyloidosis - Conjunctivitis - Anterior uveitis - Methotrexate hepatotoxicity

Answer 170

- Reactive arthritis refers to synovitis occurring due to a recent infective trigger. This is an autoimmune response to infection elsewhere in the body. This usually presents as acute monoarthritis. - Also known as Reiter syndrome/.

Answer 171

- HLA-B27 gene - Gender → Male > Female - Preceding chlamydial or gastrointestinal infection

Answer 172

- Acute, asymmetrical monoarthritis, typically in the lower leg. - Patients may present with triad of - urethritis, arthritis and conjunctivitis 'Can't see, pee or climb a tree'

Answer 173

- Warm and swollen joint - Iritis - swelling and irritation of eye - Keratoderma blenorrhagica - painless, red, raised plaques and pustules - Circinate balanitis - dermatitis of the head of the penis - Enthesitis - inflammation of the site where tendons and ligaments insert into the bone - Nail dystrophy

Answer 174

- Warm, swollen, painful joint - Mouth ulcers

Answer 175

- ESR and CRP - elevated - Infectious serology - If diarrhoea - culture stool - Aspirate joint - MCS and crystal examination - to rule out septic arthritis and crytalopathies - Sexual health review - X-ray - may show enthesitis with periosteal reaction

Answer 176

- Septic arthritis - Gout - Pseudogout - Ankylosing spondylitis - Psoriatic arthritis

Answer 177

- Presume septic arthritis until excluded (antibiotics) - NSAIDs - Steroid injections - Systemic steroids Chronic - DMARDs e.g. methotrexate or sulfasalazine - Anti-TNF

Answer 178

- Bilateral conjunctivitis (non-infective) - Anterior uveitis - Circinate balanitis (dermatitis of the head of the penis) - Keratoderma blennorrhagia

Answer 179

- A form of chronic inflammatory arthritis associated with occurrence of inflammatory bowel disease (Crohn’s and UC). - One in 5 people with IBD will develop enteropathic arthritis.

Answer 180

- Symptoms of inflammatory bowel disease - Constipation - Diarrhoea - Abdominal pain, cramps and distension - Nausea and vomiting - Arthritic symptoms of the joints - Joint pain, welling and stiffness - Uveitis - Enthetitis

Answer 181

- Inflammatory markers will be elevated. - Stool culture/endoscopy - used to provide a diagnosis of inflammatory bowel disease. - Arthrocentesis of synovial fluid in the joint. - X-Ray of the affected joints.

Answer 182

- Corticosteroids. - Disease-modifying anti-rheumatic drugs (DMARDs). - Anti-TNF-alpha.

Answer 183

- Ankylosing spondylitis - Psoriatic arthritis - Reactive arthritis - Enteric arthritis

Answer 184

- Osteochondroma - Giant cell tumour - Osteoblastoma - Osteoid osteomas

Answer 185

- Osteosarcoma - Ewing sarcoma - Chondrosarcoma

Answer 186

- Breast cancer - Prostate cancer - Lung cancer - Thyroid cancer - Kidney cancer

Answer 187

- Local bone pain, swelling and fractures. - Worse pain at night - Dull-deep pain which is swollen and tender. - Press against spinal nerves - vascular necrosis - Pulmonary symptoms - Easy bruising - Mobility issues - Systemic symptoms

Answer 188

- Previous chemotherapy - Previous cancer - Paget's disease - benign bone lesions

Answer 189

- FIRST LINE - X-ray - GOLD STANDARD - Biopsy - FBC - ESR - ALP - Lactate dehydrogenase - Ca levels - U&E - CT of abdomen and pelvis

Answer 190

- General symptomatic management: analgesics and anti-inflammatory drugs. Biphosphonates may help. - Benign tumours: can be surgically removed to reduce pain and the risk of fractures. - Malignant tumours: radiotherapy, chemotherapy, hormone-therapy and surgery depending on the type and spread of the tumour.

Answer 191

- Inflammation of a blood vessel (arteries or veins), which is characterised by the presence of an inflammatory infiltrate and destruction of the vessel wall. - Vessel wall destruction leads to aneurysm, rupture and stenosis: resulting in perforation and haemorrhage into tissues

Answer 192

- Inflammation of the lining of your arteries. Sometimes called temporal arteritis as it commonly affects the temporal branch of the carotid artery. - Often co-exists with Polymyalgia Rheumatica (PMR)

Answer 193

- Malaise - Dyspnoea - Weight loss - Morning stiffness - Unequal or weak pulse Due to arteries in the head being affected: - Headache - Scalp tenderness (pain when combing hair) - Tongue/ jaw claudication - pain when chewing - Amaurosis fugax - unable to see from one or both eyes - Sudden unilateral blindness

Answer 194

- Elevated ESR and CRP - Elevated ALP - Elevated platelets - Reduced Hb - ANCA -ve

Answer 195

GCA can be diagnosed when three of the following criteria are met: - Age at disease onset ≥50 years - New headache - Temporal artery abnormality - Elevated ESR (> 50 mm/hr) - Abnormal temporal artery biopsy (typical vasculitis features)

Answer 196

- Steroids - dampen down immune response - Prednisolone - IV methylprednisolone if evolving visual loss - PPI - Ca2+ and Vitamin D - Bisphosphonate

Answer 197

Necrotising vasculitis that causes aneurysms and thrombosis in medium sized arteries, leading to infarction in affected organs with severe systemic symptoms.

Answer 198

- Fever, malaise, weight loss and myalgia - Hypertension - Haematuria - Proteinuria - Abdominal pain - GI bleeding - Skin lesions - Rash - Livedo reticularis (pink blue mottling caused by stasis of blood in skin venules) - Punched-out ulcers - Nodules

Answer 199

- Bloods - Elevated WCC - Eosinophilia - Anaemia - Raised ESR and CRP - ANCA -ve - Renal or mesenteric angiogram - can see string of beads pattern due to fibrotic aneurysms - Renal biopsy

Answer 200

- Steroids e.g. prednisolone in combination with immunosuppressive drugs e.g. azathioprine or cyclophosphamide - Control BP - Hep B should be treated after treatment with steroids

Answer 201

- Genetic risk - Infections - Certain medications - Alpha-1 antitrypsin - Environmental exposures

Answer 202

- A multi-system disorder of unknown causes characterised by necrotising granulomatous inflammation and vasculitis of small and medium vessels. - It classically affects: the upper respiratory tract, the lower respiratory tracts and the kidneys.

Answer 203

- cANCA +ve - ESR and CRP raised - Raised WCC - Urinalysis - to look for proteinuria and haematuria - Biopsy of affected organs

Answer 204

- Steroids combined with cyclophosphamide/ rituximab - Methotrexate/ azathioprine/ rituximab usually used for maintenance - Plasma exchange in patients with severe renal disease or pulmonary haemorrhage

Answer 205

A necrotising vasculitis affecting small and medium vessels. (Similar to granulomatosis with polyangiitis).

Answer 206

- Glomerulonephritis - Pulmonary haemorrhage (30%)

Answer 207

- Steroids e.g. prednisolone combined with cyclophosphamide - Methotrexate, rituximab and azathioprine for maintenance

Musculoskeletal and Rheumatology Flashcards

(233 cards)