Connective tissue diseases - Clinical Medicine Flashcards

Question

Describe the investigation/diagnosis of antiphospholipid syndrome

Answer 1

* Diagnosis is based on the detection of anticardiolipin antibodies or a positive lupus anticoagulant assay on at least two occasions separated by at least a 12-week interval.

Answer 2

* Asymptomatic/those with high cardiovascular risk factors or with a concurrent separate autoimmune disease should receive low-dose aspirin prophylaxis = main treatment * Venous thrombosis or arterial thrombosis - conventional anticoagulation e.g., warfarin * Recurrent fetal loss- warfarin should be stopped before conception because it is tetragenic and S/C heparin and aspirin should be given throughout pregnancy to reduce risk of fetal loss * Treatment of hypertension, diabetes and hyperlipidaemia * Avoidance of the oestrogen oral contraceptive pill- prevents venous and arterial thrombosis * Avoidance of smoking - prevents venous and arterial thrombosis

Answer 3

a) System sclerosis causes fibrosis, affecting the skin, internal organs, vasculature b) * Raynaud's phenomenon (+/- digital ischaemia) * Sclerodactyly * Cardia disease * Lung dsease * GI disease * Renal disease

Answer 4

* Peak age of onset is 4th and 5th decades * Overall prevalence is 10-20/100,000 * More common in females - F:M = 4:1

Answer 5

1. Diffuse cutaneous systemic sclerosis (dcSScl) - 30% of cases 2. Limited cutaneous systemic scleosis (lcSScl) - 70% of cases

Answer 6

a) CREST * **_C_**alcinosis * **_R_**aynauds's * o**_E_**sophageal involvement * **_S_**clerodactyly (skin tightening) * **_T_**elangiectasia (small, widened blood vessels on the skin) b) In diffuse system sclerosis you get skin involvement in regions other than the face and lower arms

Answer 7

Prognosis is poor - 5 year survival rate is 70%

Answer 8

1. Skin * Non-pitting oedema of fingers and flexor tendon sheats * Shiny and taught * Capillary loss * Face and neck are often involved, with thining of the lips and radial furrowing * Tethering of skin to underlying structures * Skin hypo- and hyper-pigmentation * lsSScl - skin involvement restricted to sites distal to the elbow or knee (apart from the face) * dsSScl: involvement proximal to the knee and elbow and on the trunk is classified as diffuse disease 2.Cardiovascular * Rayanud's phenomenon- if there is thumb involvemnt expect secondary Raynaud's * Cardiac disease - myocardial fibrosis, pericarditis 3. MSK * Arthralgia and flexor tenosynovitis are common * Restricted hand function due to skin being tight rather than joint disease * Muscle weakness and wasting can result from myositis 4. GI * Erosive oesophagitis * Dysphagia - difficulty swallowing * Malabsorption due to nacterial overgrowth * Dilatation of bowel 5. Pulmonary * Pulmonary fibrosis is common * Interstitial lung disease is common * Pulmonary hypertenions more prevalent in lcSScl than in dcSScl * Shortness of breath on extertion * Pulmonary disease most common cause of death 6. Renal * Scleroderma renal crisis - kidney tissue replaced by fibrosis causes hypertensive renal crisis - rapid increasing hypertenion and renal failure (cause of death) 7. Neurological * Central and peripheral neuropathies can develop

Answer 9

* Pulmonary involvement - pulmonary hypertension, intersitital lung disease * Renal involvement - Scleroderma renal crisis (rapid increasing hypertension and renal failure)

Answer 10

Monitoring pulmonary function tests, echocardiography, blood pressure and renal function help to detect complications early in systemic sclerosis.

Answer 11

Blood tests * FBC * U&E (renal function) * LFTs * Bone group * Urinalysis * Sereological tests - ANA (+ve in 70%), Scl70 (+ve in 30% of patientd with dsSScl), Anti-centromere antibodies (in 60% of patients with lcSScl syndrome) Imaging * Chext x-ray/CT chest * ECG * Lung function test * Barium swallow can assess oesophageal involvement

Answer 12

* No agent/drug to stop or reverse fibrosis so try to slow the effects of the disease or target organs * Joint involvement - NSAIDs, analgesia * Raynaud's phenomenon and digital ulcers - avoid cold, thermal gloves/socks, high core temperature, calcium channel blockers (1st line after conservative e.g., nifedipine) * Pulmonary fibrosis/intersitial lung disease - prednisolone, with or without cyclophosphamide * Pulmonary hypertension - anti-coagulation vasodilators e.g., bosentan or heart-lung transplant * GI complications - Proton pump inhibitor * Renal crisis - antihypertensive (given immediately) e.g., ACE inhbititors, calcium-channel blockers such as, captopril * Cardiac problems/hypertension - Diuretics and ACE inhibitors

Answer 13

* ANA is +ve in 70% * Diffuse cutaneous systemic sclerosis = Scl70 antibodies (+ve in 30% patients with dcSScl) * Limited cutaneous systemic sclerosis = Anti-centromere antibodies (+ve in 60% of patients with lcSScl)

Answer 14

a) A condition in which some clinical features of systemic sclerosis, myositis and SLE all occur in the same patient b) anti-RNP antibodies c) Managment focuses on treating the components of the disease

Answer 15

* A chronic autoimmune disease, characterized by inflammation of exocrine glands. * This causes lymphocytic infiltration and fibrosis of salivary and lacrimal glands * Sjörgen's syndrome can be primary or secondary.

Answer 16

* RhA * SLE * Systemic sclerosis * Polymyotosis * Primarly biliary cirrhosis * Chronic active hepatitis

Answer 17

* Typical age of onset is between 40 and 50 * More common in females- F:M = 9:1 * May occur with other autommune diseases (secondary Sjogren's syndrome)

Answer 18

* Systemic fetures: fatigue, weight loss and fever * Dry or gritty eyes with conjuctivits and blepharitis and damage to cornea * Xerostomia (dry mouth) - difficulties swalling dry foo,talking for long periods of time and associated with dental caries (tooth decay) * Small joint pain * Circulation - Raynaud's phenomenon * Respiratory - interstitial lung disease (rare0 * Renal - Interstitial nephritis (rare) * Neurological- peripheral neuropathies, cranial neuropathies, hemiparesis, seizures and movement disorders * Malignancy - 40x increases lifetime risk of lymphoma (typically presents with painless parotid swelling and lymphodenopathy. Most commonly histology shows mucosa-associated lymphoid tissue (MALT) low grade B-cellnon hodgekin lymphoma)

Answer 19

Blood tests * FBC * U&E * ESR - usually elevate * Rheuamtoid factor (non-specific, howevere it is higher in Sjörgen syndrome than RhA) * Antinuclear antibody (ANA) may be +ve * Sjörgen syndrome type A (SS-A) - anti-Ro antibody may be +ve * Sjörgen syndrome type B (SS-B) - anti-La antibody may be +ve * Schirmer's test (6mm + 5 after mins) - to measure dry eyes

Answer 20

* To measure dry eyes : non-specifc but gives a feel whether someone has dry eyes. It can be used in combination with other investigations to investigate for Sjörgen syndrome * Small blotting paper put into eyes and left there for 5 minutes - tear production is expected * Wetting he paper by less than 5 minutes suggests reduced tear secretion

Answer 21

* Antinuclear antibody (ANA) may be +ve = not specicific * Sjörgen syndrome type A (SS-A) - anti-Ro antibody may be +ve =specific * Sjörgen syndrome type B (SS-B) - anti-La antibody may be +ve = specific

Answer 22

Symptomatic only * Eye drops - hypromellose (artificial tears) * Artificial saliva sprays, saliva-stimulating tablets, and pastilles and oral gels * Chewing gum * Oral hygiene * Vaginal dryness is treated with lubricants * Pilocarpine (5-30mg daily in divided doses) - worthwhile in early disease to amplify glandular function * Hydroxychloroquine for progressive interstitial lung disease (e.g., glucocorticoid and cyclophosphamide) and for interstitial nephritis * If lymphadenopathy or salivary gland enlargement develops, exclude malignany

Answer 23

* PM and DM are autoimmune, inflammatory msucles diseases (Proximal skeletal, cardiac and GI smooth muscle inflammation) * In DM, skin changes also occur as well as muscle

Answer 24

* More common in female - F:M = 2:1 * Inflammatory muscle disease can affect people of any age, but the peak onset is between 40 and 60 years of age. * Can occur with autoimmune diseases * Both assocciated with underlying malignancy

Answer 25

Underlying malignancy

Answer 26

MSK features of polymyositis and dermatomyositis * Weakness: insidious onset of _symmetrical proximal muscle weakness_ (shoulder and pelvis) * Pharyngeal or oesophageal muscles leading to dysphonia and dysphagia - difficulty swallowing * Respiratory muscles can lead to poor ventilation with type 2 respiratory failure. Clinical features of dermatomyositis - cutaneous manifestatiions * Gottron's papules (purple, red, scaly rashes) over MCP commmonly but also PIP and DIP, and extensor surfaces of knees and elbows * Heliotrope rash - violaceous discolouration of the eyelid (purple/blue) * Macular erthymatous rash - generally found on the head and neck, trunk or hands * Cutaneous vasculitis - can cause ulceration * Calcinosis * Periungal telangietasia Non-MSK features of polymoyositis and dermatomyoisitis * Systemic upset - fever / tiredness / malaise / weight loss * Joints - polyarthralgia * Pulmonary - interstitial lung disease * Cardiovascular - Raynaud's phenomenon and myocarditis * Associated with underlying malignancy (stronger in DM than PM) - commonly lung, oesophagus, breast, colon, ovary

Answer 27

* Serum levels of creatinine kinase - elevated due to myositis (most sensitive indicator) * Muscle biopsy - fibre, necrosis, regeneration and inflammatory cell infiltrate * Electromyography - useful for highlighting non-autoimmune/non-inflammatory myopathies * ESR - usually raised but does not closely correlate with disease activity * Autoantibodies - positive autoantiboy found in 60% of patients Anti-Jo-1 more common in PM and Anti-Mi-2 specific for DM (but only found in 25% of patients) * MRI - to find abnormal muscle * _Screening for underlying malignancy_ (e.g., history, examination, x-ray, CT of chest/abdomen/pelvis, prostate specific antigen (PSA) mammography

Answer 28

* Oral glucocorticoids for inflammation/myositis (IV if severe) * Serum creatine kinase is monitored and, as it falls, the corticosteroid dose is gradually reduced: maintenance dose of 5-7.5mg (low dose) * Immunosuppresive therapy: methotrextate, mycophenolate, azathioprine, rituximab probably efficacious * IV immunoglobulins (IV lg) may be effective in refractory cases

Answer 29

Inflammation ad necrosis of blood vessel valls, wth associated damage to skin, kidney, lung, heart, brain, and GI tract

Answer 30

* Drug exposure * Farming infection * Drugs * Season * Geography * Ethnicity

Answer 31

* Giant cell arteritis and polymyalgia rheumatica * Takayasu arteries

Answer 32

* Polyarteries nodosa * Kawasaki

Answer 33

* Wegener granulomatosis * Churg-strauss syndrome * Microscopic polyangitis * Hench-Schonlein purpura * Essential cyroglobulinaemic vasculitis

Answer 34

Giant cell arteritis and polymyalgia rheumatica

Answer 35

* Often co-exist * Affect people over 60 (rare under 600 * More common in females - F:M = 3:1

Answer 36

* Systemic symptoms e.g., weight loss, fatigue, malaise, and night sweats are common * Headache loacalised to temporal or occipital region * Temporal artery is thickened and beaded on palpation and may be pulseless * Scalp tenderness * Jaw claudication/pain - brought on by chewing or talking (increase use of mucles requires more oxygen however inflammation of blood vessels means less blow flow to muscles * Visual disturbance- transient visual disturbance (amaurosis) or with blindness in one eye due to ischaemia optic neuritis (caused by occlusion of posterior cilliary artery and branches of the ophthalmic arteries) * Rarely - neurological symptoms may occur with weakness or the inability to move on one side of the body with transiet ischaemic attacks, brainstem infarction (an area of tissue death resulting from a lack of oxygen supply to any part of the brainstem) and hemiparesis * Serious complications - Permanent monocular blindness/stroke

Answer 37

* Symmetrical pain and stiffness in the shoulder girdle and pelvic girdle, often without synovitis * No muscle weakness or tenderness

Answer 38

* Calcium pyrophosphate disease * Spondylarthritis * Hyper/hypothryoidism * Psoriatic arthritis (entheseopathic) * Systemic vasculitis * Multiple myeloma * Inflammatory myopathy * Lambert-Eaton syndrome * Multiple separate lesions (cervical spondylosis, cervical radiculopathy, bilateral, subacromial, impingement, facet joint arthritis, OA of the acromioclavicular joint)

Answer 39

PMR * ESR/CRP - typically raised in both GCA * ESR - 1st line investigation * Temporal artery biopsy - diagnostic test + multiple biopsies should be taken as skip lesions could occur * Ultrasound of temporal arteries - 'affected temporal arteries show a 'halo' sign * PET scan

Answer 40

* This is because 'skip' lesions can occur * This is where part of the artery is affected but the bit of the artery next to it is not affected so the bipsy might come up as negative * Ultrasound of temporal arteries is rcommended also

Answer 41

* GCA is a medical emergency because of visual loss - reponse is dramatic, within 48-72 hrs of starting therapy - higher doses in GCA (60-80mg prednisolone/500mg IV mmethylpredisolone if visual impairment and temporal arteritis) than PMR (15-20mg) * Dose should be progressively reduced, guided by symptoms and ESR, with the aim of reaching a dose of 10-15mg by about 8 weeks * The rate of reduction should then be slowed by 1mg/month. If symptoms recur, the dose should be increased to that which previously controlled the symptoms, and reduction attempted again in another few weeks * Most patients need glucocorticoids for an average 12-24 months so bisphosphonates and calcium and vitamin D supplements given to prevent osteoporosis

Answer 42

a) Aortic arch and its branches b) Young (\<40) women, most common in Asia c) * Generally unwell * Dizziness * Myalgia * Claudication * Fever * Arthralgia * Weight loss d) Examination may reveal loss of pulses, bruits over central pulses, hypertension and aortic incompetence and possible aortic murmur e) Vascular imaging f) Treatment is with high-dose glucocorticoids and immunosuppressants but vascular complications can occur and surgery e.g., bypass surgery may be needed

Answer 43

a) A necrotizing arteritis that leads to aneurysm formation and associated with p-ANCA b) More common in men than women c) Hepatitis B d) * Systemic features - fever, myalgia, arthralgia, weight loss * Kidney - renal failure * Coronary - ischaemic heart disease, haemorrhage * GI - abdominal pain, nausea * CNS - eyes complaints, skin ulceration, purpuric rash * Peripheral neuropathy * testicular involvement/livedo reticularis e) Renal, rectal and nerve biopsies f) High-dose glucorticoids and immunosuppressant

Answer 44

a) Small and medium vessels (mostly coronary vessels) b) Seen in childhood: \<5 c) * Fever * Generalised rash including palms and soles * Inflamed oral mucosa (strawberry tongue) * Conjuctival injection * Cardivascular complications including coronary arteritis leading to myocardial infarction, transeit dilation, myocarditis, pericarditis, peripheral vascular insufficiency, and gangrene * (ANCA is -ve) d) Low dose aspirin (5mg/kg daily for 14 days) and IV immunoglobulin (400 mg/kg daily for 4 days)

Answer 45

a) p-ANCA (Proteinase 3 (PR3) ANCA) b) 30 and 40 years of age c) * Joints - athralgia, arthritis * Skin -Rashes, livedo reticularis * ENT involvement e.g., saddling of nose due to destruction of the septal cartilage, nasal disharge, epistaxis (nose bleeds), cough, sensorineural deafness * Nervous system - cranial nerve palsies, peripheral neuropathy * Respiratory complications and renal complications e.g., pulmonary haemorrhage and renal failure most serious * Pauci-immune glomerulonephritis - Haematuria, proteinuria + frothy urine e) Cyclophosphamide, corticosterioid, rituximab

Answer 46

a) Gramulomatosis with polyangiitis arteritis Difference is that there is no granulomata in MPA, whereas there is is GPA b) Rash, predominantly kidney affected e.g., rapidly progressive glomerulonephritis

Answer 47

a) 1. Atopic phase - allergic rhinitis, Late-onset/resisted asthma 2. Eosinophilic stage - abnormally high esosinophils, weight loss, night sweats, cough, diarrhoea and wheeze due to effects of esosinophils on the body's system 3. Vasculitis stage - Inflammation and damage to blood vessels results in rashes, mononeuritis, renal and abdominal pain b) myeloperoxidase (MPO) ANCA c) * ESR, CRP and eosinophils - raised * Aniography - diganosis confirmed by aniography which shows multiple aneurysms and smooth narrowing of mesentric, hepatic, or renal systems, or by msulce or sural nerve biopsy d) High-dose glucocoritcoids and cyclophosphamide, followed by maintenance therapy with lose-dose glucocorticoids and azathioprine, methotrexate, ormycophenolate mofetil

Answer 48

a) Caused by immune complex deposition after infectious trigger b) Affects children and young adults but can occur in any age c) * palpable pupuric rash over the buttocks and lower legs * Abdominal pain * GI bleed * Arthralgia * Nephritis can occur up to 4 weeks after other symptoms d) Biopsy of affected tissue - shows vasculitis with IgA deposits in the vessel wall e) * Usually self-limiting disorder that settles spontaneously without specific treatment * Glucocortioids and immunosuppressive therapy may be required in patients with more severe disease, particularly if renal disease

Answer 49

a) A rare multi-organ disease caused by a sytemic vasculits . The cause is unkown (most common in people from turkey, mediterannean and japan). b) * (Recurrent) oral ulcers * (Recurrent) genital ulcers * Uveitis * Erythema nodosum * Neurological involvemement * Recurrent thromboses * Renal involvement (v. rare) c) * Oral ulcertation - topical glucocortiocid preperations (soluble prednisolone mouthwashes, glucocorticoid pastes) * Erythema nodosum - colchicine can be effective for skin and arthralgia * Oral and genital ulceration - thalidomide (teratogenic and neurotoxic however) * Uveitis and neurological disease - glucocorticoids and immunosuppressants

Answer 50

* Bacterial endocarditis * Cancer (paraneoplastic) * SLE * Atrial myxoma * Cholesterol amboli * Calciphylaxis

Answer 51

* Blood tests - FBC (neutrophils, eosonphils), ESR (raised) * Biochemistry - to assess extent of organ involvement, CRP (raised) * Immunology * Urine - for blood, protein, casts * Tissue biopsy * Imaging - artery specific imaging for large and medium vessel disease (angiography, magnetic resonance, PET) and tissue specific imaging for small vessel vasculitis * Complemement levels * Rheumatoid factor * Protein electrophesis * Serum immunoglobulins * Cryoglobulins * ANCA

Answer 52

* Glucocorticoids are the main way * Immunosuppressive agents also have some efefct

Answer 53

* If localised, use methotrexate or steroids * If generalised, use cyclophosphamide and sterioids

Answer 54

* Co-morbidities - elderly * Chronic disease - cardiac and relapse * Drug effects - steroids, immunosuppresive agents (cyclophosphamide - beware bladder complications)

Answer 55

a) Anti-neutrophil cytoplasm antibodies (ANCA) are autoantibodies that target a type of human white blood cell called neutrophils b) 1. Granulomatosis with polyangiitis (GPA, Wegener’s granulomatosis) 2. Microscopic polyangiitis (MPA) 3. Eosinophilic granulomatosis with polyangiitis (EGPA, Churg-Strauss syndrome) c) Proteinase 3 (PR3) and myeloperoxidase (MPO). d) 1. In granulomatosis with polyangiitis (GPA, Wegener’s) - most (95%) patients are ANCA positive at diagnosis, and GPA is most commonly associated with PR3-ANCA 2. In microscopic polyangiitis (MPA) most patients are ANCA positive (90%) at diagnosis, typically with MPO-ANCA (2). 3. In eosinophilic granulomatosis with polyangiitis (EGPA, Churg Strauss) - less than half (40 %) of patients are ANCA positive at diagnosis, usually MPO-ANCA(3).

Answer 56

Anti-dsDNA

Answer 57

Anti-histone

Answer 58

antiphospholipid and anti-cardiolipin

Answer 59

* Sjörgen syndrome type A: Anti-Ro * Sjörgen syndrome type B: Anti-La

Answer 60

Anti-centromere

Answer 61

Antitopoisomerase-1 (Scl-70)

Answer 62

c-ANCA (PR3)

Answer 63

p-ANCA (MPO)

Answer 64

* Tendons connect muscle to the bone - transit forces from muscle to bones * Ligaments connect bones to eachother - help stabilise joints

Answer 65

* Depends on speed on injury * Fast - tendon ruptures * Slow - bone avulses

Answer 66

* Supraspinatus * Infraspinatus * Subscapularis * Teres minor

Answer 67

a) Inserts onto greater trochanter to allow abduction of the shoulder b) * Weak shoulder abduction * Unable to keep arm elevated * Drop arm sign (if you passively lift arm and let go, it'll drop down c) * Conservative - activity adaption, physiotherapy * Surgical - decompression, repair (suture anchors)

Answer 68

a) An umbrella term for condition that affect the entheses b) Enthesitis is the inflmmation of the entheses e.g.,tennis elbow (lateral epicondylitis) and golfers elbow (medial epidcondylitis)

Answer 69

a) Inflammation at the common extensor origin on the anterior aspect of lateral epicondyle b) * Tenderness over the common extensor origin * Pain on restricted extension of wrist and fingers, diffuse tenderness on outer elbow c) * Elbow clasp * Bigger grip * Physiotherapy * Steroid injection * Surgery - not curative but may help improve symptoms allowing return to work

Answer 70

a) Inflammation at the common flexor origin on the medial epicondyle b) * Tenderness over common flexor tendon origin * Pain on resisted flexion, wrist, and fingers c) * Elbow clasp * Bigger girp * Physiotherapy * Steroid injection * Surgery - not curative but may help improve symptoms allowing return to work

Answer 71

a) It is an overuse injury (e.g., frequent jumping, running) of the patella tendon b) * Pain at inferior pole of patella * Swollen knee * Knee stiffness c) * Activity modification * Physiotherapy * Pain relief * Orthotics * Avoid steroid infiltration * Surgery only needed in exception cases

Answer 72

a) Overuse injury of the achilles tendon, cauing it to become inflamed b) * Pain over insertion of tendon on Os-Calcis * Swelling c) * Reassurance * Explanation * Activity modification * Resting splints * Physiotherapy * Drugs - analgesics, NSAIDS, avoid steroid infiltration * Surgery in severe cases (tendon sheath splits and gelatinous material scooped out)

Answer 73

* Pregnancy * Diabetes * Epilepsy * Problems with heart, liver, kidney

Answer 74

* Do not stop taking medication without speaking to a doctor * Watch swelling of ankles (oedema) * Take after a full meal or with antacids to reduce irritation of stomach * Tell patient to be aware that appetite will go up * Give a steroid card

Answer 75

* Bisphosphonate * Calcium and vit D supplement * PPI

Answer 76

You must consider giant cell arteritis and must prescribe corticosteroids immediately (50mg prednisolone)

Answer 77

* The reconstructive ladder is a systemic approach to close a wound, restore function, and restore form * It starts with tthe simplest methods and culminating in the most complex methods

Answer 78

A skin graft is a piece of skin moved from one part of the body to another part of the body where it is reliant upon the recipient site for its nutrition

Answer 79

Full thickness graft * The epidermis and whole of dermis is harvested * Quicker healing of donor site - great for face and hands * Less contraction of the skin graft Split thickness skin graft * The epidermis and only upper parts of the dermis is harvested * Donor sit heals by re-epithelialization * More contraction of the skin graft

Answer 80

A flap is a block of tissue moved from one part of a body to another part of the body, where it incoporates its own blood supply for its own nutrition

Connective tissue diseases - Clinical Medicine Flashcards

(108 cards)