Clinical consultation cases Flashcards
(144 cards)
1
Q
Consultation - what are the symptoms of acromegaly?
A
Insidious onset of symptoms.
Tumour - headaches, visual field defects.
Excess GH - enlargement of hands and feet, frontal bossing, thickened nose, enlarged tongue.
Hyperprolactinaemia - galactorrhoea, amenorrhoea.
2
Q
What examination features would you expect to see in acromegaly?
A
Bitemporal hemianopia
Enlarged hands and feet
Frontal bossing
Macroglossia
Prognathism
Excessive sweating
3
Q
Given the findings of frontal bossing, macroglossia, headaches what is your preferred diagnosis and differentials?
A
Acromegaly
Due to: pituitary adenoma, ectopic GH secretion from non-endocrine tumours
DDx:
Pseudo-acromegaly - similar feature but no elevated GH or IGF-1
Hyperinsulinaemia
4
Q
How would you investigate for acromegaly?
A
Blood glucose
Bloods - phosphate, calcium, triglycerides - can be raised
IGF-1 screening - sensitive but not specific
Oral glucose tolerance test to confirm raised IGF-1
Pituitary hormone assessment - prolactin, adrenal, thyroid, gonadal hormones
MRI pituitary and hypothalamus
Visual field testing
5
Q
What is acromegaly?
A
Disorder caused by excessive secretion of growth hormone causing an overgrowth of organ systems, bones, joints, and soft tissues.
6
Q
What are the complications of acromegaly?
A
Hypertension
Diabetes
Obstructive sleep apnoea
Increased colonic polyps and adenocarcinoma of the colon
Hypopituitarism after surgery or radiotherapy
7
Q
How would you manage a patient with acromegaly?
A
MDT approach including endocrinologist, geneticist for counselling.
Aim is symptom control from tumour and excessive hormone production.
Trans-sphenoidal surgery.
Can have adjuvant drug treatment after (somatostatin analogue like ocreotide or dopamine agonist like bromocriptine) or radiotherapy.
8
Q
Consultation - what are the symptoms of ankylosing spondylitis?
A
Insidious onset of symptoms over months to years, usually presented before the age of 30 years.
Systemic - fever, weight loss, fatigue.
Inflammatory back pain - morning stiffness, improves with physical activity, nonspecific buttock pain from sacoiliitis.
Peripheral joints - enthesitis (Achilles tendonitis and plantar fasciitis), and arthritis.
Extra-articular - uveitis, psoriasis, IBD.
9
Q
What is the prognosis of acromegaly?
A
Increased all-cause mortality due to cardiovascular risks but if GH secretion is controlled then life expectancy normalises.
10
Q
What examination features would you expect to see in ankylosing spondylitis?
A
Tenderness of the sacroiliac joints.
Limited spinal motion.
Loss of lumbar lordosis, buttock atrophy, exaggerated thoracic kyphosis (question mark posture).
Chest expansion reduced.
Lateral lumbar flexion and forward lumbar flexion is reduced.
Schober’s test - thoracolumbar back examination.
11
Q
Given the findings of uveitis, long standing back pain with reduced lumbar spine motion what is your preferred diagnosis and differentials?
A
Ankylosing spondylitis
DDx:
Mechanical back pain
Inflammatory - RA, psoriatic arthritis, reactive arthritis
Degenerative - OA
Infection - TB
Neoplasms
Fractures
Spinal stenosis
12
Q
What is ankylosing spondylitis?
A
Chronic spondylarthropathy involving the axial skeleton.
13
Q
How would you manage a patient with ankylosing spondylitis?
A
MDT approach with rheumatology specialty input.
Conservative - no cure, physiotherapy and postural training, hydrotherapy.
Medical - NSAIDs for symptoms, additional analgesics, local steroid injection e.g. sacroiliitis, TNF-alpha inhibitors e.g. adalimumab.
Surgical - corrective osteotomy and stabilisation for severe kyphosis.
14
Q
How would you investigate for ankylosing spondylitis?
A
Bloods - FBC, inflammatory markers, RhF/ANA/HLA.
X-rays - sacroiliitis or enthesitis, squaring of the vertebral bodies.
MRI.
DEXA for osteoporosis.
15
Q
What are the complications of ankylosing spondylitis?
A
Spinal fusion
Spinal fracture
Cauda equina
Hip involvement
16
Q
What is the prognosis of ankylosing spondylitis?
A
Variable course but progressive and irreversible
Increased risk of spinal fractures
17
Q
Consultation - what are the symptoms of Cushing’s disease?
A
Changes to face - facial fullness/moon facies.
Increased weight - truncal obesity, supraclavicular fat pads, buffalo hump.
Psychological - depression, emotional lability.
Irregular menses.
Thirst, polydipsia, polyuria.
Headaches if ACTH pituitary tumour.
18
Q
What examination features would you expect to see in Cushing’s disease?
A
Truncal obesity
Moon facies
Proximal muscle wasting and weakness
Hypertension
Skin - atrophy, purple striae, easy bruising, hirsutism, acne
Oedema
19
Q
Given the findings of increased weight, hypertension, easy bruising and hirsutism what is your preferred diagnosis and differentials?
A
Cushing’s syndrome
DDx:
Anxiety/depression
Prolonged alcohol consumption causing Cushingoid appearance
Obesity
Poorly controlled diabetes
20
Q
What is Cushing’s disease?
A
Prolonged exposure to elevated glucocorticoids. 80% due to pituitary adenomas (disease rather than syndrome).
21
Q
How would you investigate for Cushing’s disease?
A
Bloods - FBC raised WCC, hypokalaemia
24 hour urinary free cortisol - raised
Low-dose dexamethasone suppression test
Midnight cortisol levels - loss of normal diurnal variation
Dexamethasone suppressed corticotropin-releasing hormone - very reliable
Identifying the cause: plasma ACTH
22
Q
What are the complications of Cushing’s disease?
A
Metabolic syndrome
Hypertension
Impaired glucose tolerance and diabetes
Obesity
Hyperlipidaemia
Osteoporosis
23
Q
How would you manage a patient with Cushing’s disease?
A
MDT approach with specialty endocrinologist input
Medical - metyrapone or ketoconazole to lower cortisol
Surgical - treatment of choice for pituitary or adrenocortical tumours
Pituitary radiotherapy - if persisting post trans-sphenoidal surgery
24
Q
What is the prognosis of Cushing’s disease?
A
Mortality now matches age-matched population.
25
Consultation - what are the symptoms of dermatomyositis?
Rash
Systemic features - fever, arthralgia, malaise, weight loss
GI ulcers and infection
Muscle weakness
26
What examination features would you expect to see in dermatomyositis?
Rash - blue-purple discolouration on the upper eyelids with periorbital oedema, flat red rash on face and upper trunk, purple-red scaly patches over extensor surfaces of joints and fingers
27
How would you investigate for dermatomyositis?
Bloods - creatine kinase, LDH, ANA, anti-Mi-2 antibodies (specific but not sensitive), anti-Jo-1 antibodies
Muscle biopsy - can be diagnostic
28
Given the findings of peripheral weakness and purple rash over the eyes what is your preferred diagnosis and differentials?
Dermatomyositis due to autoimmune or viral.
DDx:
SLE
Systemic sclerosis
RA
Sjogren's
29
What is dermatomyositis?
Connective tissue disease with inflammation of the skin and muscles.
30
How would you manage a patient with dermatomyositis?
MDT approach - rheumatology, physiotherapy for strength, SALT if swallow problem
Non-drug - sun cream.
Drug - steroids, biologics (e.g. TNF-a, IV Ig, rituximab).
31
What are the complications of dermatomyositis?
GI ulceration
Subcutaneous calcification causing ulceration, infection, bad scarring
Increased malignancy risk
32
What is the prognosis of dermatomyositis?
2-3 times higher mortality than general population due to cancer, lung and cardiac complications and infections.
33
Consultation - what are the symptoms of erythema nodosum?
Eruptive phase - fever, aching, arthralgia then rash.
Rash - red, tender nodules 2-6cm with poorly defined borders. Lesions become tense, hard, and painful then later fluctuant.
Aching legs and swollen ankles.
Resolve after 6 weeks-6 months.
34
What examination features would you expect to see in erythema nodosum?
Red, tender nodules 2-6cm. Can be tense, hard and painful or fluctuant.
35
Given the findings of red tender lesions on the legs what is your preferred diagnosis and differentials?
Erythema nodosum
Due to: no cause, diabetes, OCP, sarcoidosis, UC/Crohn's, mycobacteria (TB)
DDx:
Acute urticaria
Vasculitides
Rheumatoid nodules
Superficial thrombophlebitis
36
What is erythema nodosum?
Hypersensitivity reaction - dermatological manifestation of infectious or other disease.
37
How would you investigate for erythema nodosum?
Bloods - FBC, ESR and CRP.
Stool sample
Sarcoid - Ca and ACE often raised
CXR - bilateral bilar lymphadenopathy in sarcoid
Intradermal skin tests if need to rule out TB
Excisional biopsy if doubtful of diagnosis
38
What are the complications of erythema nodosum?
Usually none, heal without atrophy or scarring and chronic/recurrent disease is rare.
39
How would you manage a patient with erythema nodosum?
Mostly self-limiting so need symptomatic relief only - NSAIDs and colchicine, steroids may be helpful if not infective.
40
Consultation - what are the symptoms of Hashimoto's thyroiditis?
Rapidly enlarging thyroid gland - can cause dyspnoea, pain, goitre.
Hypothyroidism symptoms - faitgue, constipation, dry skin, weight gain, cold intolerance, slowed movement, lethargy, decreased sweating, peripheral neuropathy, menstrual irregularities, depression, memory problems, hair loss.
41
What is the prognosis of erythema nodosum?
Usually resolves within 6 weeks but can go on longer if underlying cause persisting.
42
What examination features would you expect to see in Hashimoto's thyroiditis?
Goitre - can be painful
Dry skin
Decreased sweating
Peripheral neuropathy
Myxoedema coma - confusion, apathy, lethargy, facial puffiness and macroglossia, hair loss, bradycardia
43
Given the findings of weight gain, low mood, cold intolerance, goitre what is your preferred diagnosis and differentials?
Hashimotos' thyroiditis
DDx:
Hypothyroid
Associations: Addison's, DM, hypogonadism, pernicious anaemia
44
What is Hashimoto's thyroiditis?
Autoimmune disease causing goitrous hypothyroidism.
45
How would you investigate for Hashimoto's thyroiditis?
Thyroid gland - lymphocytic and plasma cell infiltration
Bloods - TSh levels raised, thyroid autoantibodies (anti-thyroid peroxidase and anti-thyroglobulin)
Thyroid ultrasound
Radioactive iodine uptake and scan
46
What are the complications of Hashimoto's thyroiditis?
Over-replacement with thyroxine causes tachycardia and bone loss
Hyperlipidaemia if untreated
Hashimoto's encephalopathy
Myxoedema coma
47
How would you manage a patient with Hashimoto's thyroiditis?
Drugs - thyroid hormone replacement titrated to patient's needs
Surgical - if goitre causing obstructive symptoms or malignant nodule
48
What is the prognosis of Hashimoto's thyroiditis?
Normal if on replacement therapy
49
Consultation - what are the symptoms of a goitre?
Usually asymptomatic
May have been noticed by family or seen in mirror
Can have pain or rarely compression of the trachea
50
What examination features would you expect to see in a goitre?
Movement of thyroid with swallow - inspect then feel with 2nd and 3rd fingers of both hands as they swallow again
Note enlargement, asymmetry, size, tenderness
Feel for regional lymphadenopathy
51
Given the findings of lump in neck which moves down on swallowing what is your preferred diagnosis and differentials?
Goitre
Due to: simple goitre (non-functioning nodules), functioning nodules, retrosternal/hyperplasic/colloid nodules, thyroid adenoma/carcinoma, Graves' disease, Hashimoto's thyroiditis, De Quervain's thyroiditis
DDx:
Thyroglossal cyst
Branchial cyst
Pharyngeal pouch
Lymph nodes
52
How would you manage a patient with a goitre?
Depends on cause.
Functioning (deranged TFTs) and no red flags - refer to endocrinologist.
Non-functioning or red flags - 2WW pathway.
53
What is a goitre?
Enlargement of the thyroid gland - can be from a solitary nodule or multinodular.
54
How would you investigate for a goitre?
Bloods - TFTs to see if non functioning or functioning, CEA if thyroid cancer suspected.
Ultrasound.
Fine-needle aspiration.
CT or MRI - look for LN or spread if neoplastic cause.
55
What are the complications of a goitre?
Tracheal or oeseophageal compression
Pain
56
What is the prognosis of a goitre?
Depends on cause, if simple should self resolve.
57
Consultation - what are the symptoms of lupus pernio?
New rash on nose, ears, cheeks and lips - may ulcerate. Usually asymptomatic but can have itch or pain.
75% have pulmonary sarcoidosis - dry cough, fever, dyspnoea, chest discomfort.
Constitutional symptoms - fever, fatigue, cachexia.
58
What examination features would you expect to see in lupus pernio?
Red-purple plaques and nodules on nose, ears, cheeks and lips, which may ulcerate.
Pulmonary sarcoidosis - restrictive disease.
59
What is lupus pernio?
Form of cutaneous sarcoidosis - with granuloma formation.
60
Given the findings of red-purple plaques and nodules on the nose and ears what is your preferred diagnosis and differentials?
Lupus pernio
DDx:
Erythema multiforme
Hypersensitivity vasculitis
Acne rosacea/rhinophyma
61
How would you investigate for lupus pernio?
Examination of skin lesion with diascopy
Bloods - ACE elevated, ALP, Ca, gamma globulin, lymphocytes reduced
Rule out TB with skin test or quantiferon gold
Skin biopsy or biopsy of lymph nodes or lungs confirm sarcoidal non-caseating granulomas
Lung function tests
CXR
ECG or echo
62
What are the complications of lupus pernio?
Persists without resolution
Pulmonary or cardiac involvement of sarcoidosis
63
What is the prognosis of lupus pernio?
Persists for years, doesn't resolve spontaneously.
64
How would you manage a patient with lupus pernio?
MDT approach with dermatology and rheumatology.
Supportive - cosmetic camouflage.
Medical - topical steroids, intralesional steroid injections, laser treatment, systemic treatment (steroids, hydroxychloroquine, methotrexate, biologics e.g. infliximab).
65
What is neurofibromatosis?
Autosomal dominant genetic disorder causing lesions in the skin, nervous system and skeleton. Due to mutations on chromosome 17 and 22 for type 1 and 2 respectively.
66
Consultation - what are the symptoms of neurofibromatosis?
Rashes as on examination - cafe-au-lait macules, axillary freckling, neurofibromas
Learning difficulties, speech problems
FHx of neurofibromatosis
67
What examination features would you expect to see in neurofibromatosis?
Type 1:
Cafe-au-lait spots or hyperpigmented macules
Axillary or inguinal freckles
Neurofibromas
Optic nerve glioma
Iris hamartomas on slit-lamp
Type 2:
Acoustic neurofibromatosis or central.
Hearing defect
68
Given the findings of 7 cafe-au-lait spots, axillary freckles, iris hamartoma what is your preferred diagnosis and differentials?
Neurofibromatosis type 1
DDx:
Type 2
Hereditary non-polyposis cancer of the colon
Neurocutaneous melanosis
Peutz-Jeghers syndrome
69
What are the complications of neurofibromatosis?
Brain tumours, leukaemia, other malignancies increased risk
Peripheral nerve sheath tumours can undergo malignant changes in NF1
70
How would you manage a patient with neurofibromatosis?
MDT approach to monitor progress and intervene if tumours cause pressure symptoms or malignant changes suspected, genetic counselling.
Type 1 - can excise symptomatic lesions but often recur, wide local excision if malignant changes, monitor for learning difficulties.
Type 2 - hearing and visual assessments, surgery if symptomatic tumours but recurrence risk, VEGF inhibitor bevacizumab can decrease tumour size
71
How would you investigate for neurofibromatosis?
Plain X-ray of long bones and vertebral column
CT/MRI - for optic nerves, head imaging for gliosis
EEG if seziures
Slit-lamp examination of the eye - Lisch nodules
Genetic testing
Hearing tests for type 2
72
What is the prognosis of neurofibromatosis?
Type 1 is very variable so hard to predict, mostly live healthy lives but some reduced life expectancy
Type 2 has worse prognosis
73
Consultation - what are the symptoms of Osler-Weber-Rendu syndrome/hereditary haemorrhagic telangiectasia?
Recurrent epistaxis in teenage years.
Red-purple macules/papules/spider-like lesions on nasal mucosa, lips, and tongue.
GI haemorrhage.
Pulmonary AVMs - dyspnoea, cyanosis, bruits, high-output heart failure, clubbing.
Liver AVMs - high-output heart failure, cirrhosis, fibrosis.
CNS AVMs - aneurysm causing headaches, seizures, haemorrhage, stroke.
74
What examination features would you expect to see in Osler-Weber-Rendu syndrome/hereditary haemorrhagic telangiectasia?
Sharply demarcated red-purple macules/papules/spider-like lesions on nasal mucosa, lips, and tongue.
High-output heart failure.
Cyanosis, dyspnoea.
Hepatic fibrosis.
75
Given the findings of sharply demarcated red-purple papules on the lips and tongue, high-output heart failure, and dyspnoea what is your preferred diagnosis and differentials?
Osler-Weber-Rendu syndrome/hereditary haemorrhagic telangiectasia.
DDx:
CREST syndrome
Von Willebrand's disease
76
What is Osler-Weber-Rendu syndrome/hereditary haemorrhagic telangiectasia?
Condition with vascular dysplasia leading to telangiectasia and arteriovenous malformations.
77
How would you investigate for Osler-Weber-Rendu syndrome/hereditary haemorrhagic telangiectasia?
Capillary microscopy for screening
CT, MRI and angiography to identify lesions
Diagnosis based on 3 of: epitaxes, telangiectasia, visceral lesions, family history
Genetic testing for specific mutation
78
How would you manage a patient with Osler-Weber-Rendu syndrome/hereditary haemorrhagic telangiectasia?
MDT approach with
Medical - blood transfusion for haemorrhage, oestrogen therapy , selective oestrogen receptor modulators
Surgical - ablation emergency or elective, embolisation of AVMs, septplasty of the nose, liver transplantation
79
What are the complications of Osler-Weber-Rendu syndrome/hereditary haemorrhagic telangiectasia?
Haemorrhage is main concern
Cirrhosis in small number
80
What is the prognosis of Osler-Weber-Rendu syndrome/hereditary haemorrhagic telangiectasia?
Usually no effect on lifespan, but mortality is associated with severe haemorrhage or complications from AVM in brain, lungs, or gut.
81
Consultation - what are the symptoms of psoriatic arthritis?
Joint stiffness, pain and swelling, tenderness of the joints and ligaments and tendons.
Inflammatory pain and swelling - knees, ankles, hands, feet, dactylitis (swelling of whole digit).
Inflammatory pain axial skeleton and at tendon insertions (enthesitis) - particularly Achilles tender.
Conjunctivitis or anterior uveitis.
Skin psoriasis.
82
What examination features would you expect to see in psoriatic arthritis?
Psoriatic nail disease in 90%
Joint swelling and tenderness
Red eye - conjunctivitis, anterior uveitis
Skin psoriasis
83
Given the findings of bilateral joint swelling and pain predominantly affecting the distal interphalangeal joint with rash and dactylitis what is your preferred diagnosis and differentials?
Psoriatic arthritis
DDx:
Inflammatory - rheumatoid arthritis, reactive arthritis, ankylosing spondylitis
Gout
Septic arthritis
84
What is psoriatic arthritis?
Inflammatory arthritis affecting the joints and connective tissue associated with psoriasis of the skin and nails.
3+ tender joints and 3+ swollen joints = active disease.
85
How would you investigate for psoriatic arthritis?
Bloods - CRP/ESR raised, RhF negative usually, IgA elevated in 2/3, HLA
Synovial fluid aspirate - high white cells
X-ray changes - bone erosions, asymmetric erosive changes, DIP erosions and deformity
MRI/CT - specific and sensitive
86
How would you manage a patient with psoriatic arthritis?
MDT approach including rheumatology specialty reviews yearly, physio and occupational therapy.
Conservative - smoking cessation, weight loss, exercise, PT/OT.
Drugs - NSAIDs, injected corticosteroids, DMARDs (e.g. methotrexate, sulfasalazine, leflunomide), biological treatment (etanercept, infliximab, adalimumab, golimumab).
Surgery - for deformed joints and functioning improvement, synovectomy for synovitis.
87
What are the complications of psoriatic arthritis?
Joint destruction, finger destruction, disability, extra-articular disease (eye disease, aortic insufficiency from aortitis).
Impacted on work and ADLs with subsequent impact on quality of life.
Atlanto-axial subluxation.
88
What is the prognosis of psoriatic arthritis?
40-60% develop erosive and deforming joint complications.
Aggressive treatment early helps improve prognosis.
89
Consultation - what are the symptoms of pyoderma gangrenosum?
Rapidly growing, painful, undermined and purulent ulcers, usually over areas of trauma. Pimple to crater within 48 hours. Usually impacting lower legs and trunk.
90
What examination features would you expect to see in pyoderma gangrenosum?
Non-healing ulcer or wound.
Pustule or nodule that breaks down to rapidly enlarging ulcer with raised inflammatory border and boggy, necrotic base, may have small abscesses. Generally on lower legs or trunk.
91
Given the findings of non-healing ulcer with raised inflammatory edge on leg after trauma what is your preferred diagnosis and differentials?
Pyoderma gangrenosum
Due to: IBD, arthritis, liver disease, myeloproliferative disorders.
DDx:
Infectious - bacterial e.g. TB, viral e.g. herpetic ulcers, parasitic e.g. syphilis
Vascular - arterial or venous ulcers, vasculitis
Malignancies - SCC, cutaneous lymphoma
92
What is pyoderma gangrenosum?
Uncommon neutrophilic dermatosis.
93
How would you investigate for pyoderma gangrenosum?
Bloods - FBC, inflammatory markers, LFTs, urine protein, rheumatological investigations.
Autoantibodies - p-ANCA often positive, particularly if linked with IBD, c-ANCA may indicate granulomatosis with polyangiitis.
Swabs and cultures of ulcer.
Biopsy of lesions to exclude other causes.
94
How would you manage a patient with pyoderma gangrenosum?
MDT approach - wound care and dressings, dermatology specialist
Topical/intralesions steroids
Moderate-severe - prednisolone, high-dose tetracyclines
Other options - colchicine, ciclosporin, sulfasalazine, infliximab
Surgical if extensive wounds (+- necrosis) for debridement
95
What are the complications of pyoderma gangrenosum?
Pain, wound odour, debility
Scarring of healed lesions
Secondary infection
Other organ involvement - extracutaneous neutrophilic disease, eye involvement
96
What is the prognosis of pyoderma gangrenosum?
May be spontaneous resolution but can last for months-year or flare-up again after minor trauma.
Depends on underlying disease and control.
97
Consultation - what are the symptoms of rheumatoid arthritis?
Insidious symmetrical polyarthritis, particularly small joints of hands and feet. Redness, swelling, pain, stiffness (morning or after inactivity).
Nonspecific systemic symptoms - lethargy etc.
Extra-articular features - particularly eye changes, skin changes, and respiratory changes e.g. in ILD.
98
What examination features would you expect to see in rheumatoid arthritis?
Symmetrical, distal, small joint arthritis involving the proximal interphalangeal, metacarpophalangeal, wrist, metatarsophalangeal, ankle, knee, and cervical spine joints.
Hand deformitis - ulnar deviation, swan neck and Boutonniere's deformity of the fingers, Z deformities of thumbs and piano key deformity of the wrist.
Muscle wasting and tendon rupture.
Extra-articular:
Eye - Sjogren's, scleritis, episcleritis
Skin - leg ulcers in Felty's
Rheumatoid nodules
Neurological - nerve entrapment
Respiratory - pulmonary fibrosis
99
Given the findings of symmetrical, distal small joint swelling and pain with inflamed eyes what is your preferred diagnosis and differentials?
Rheumatoid arthritis
DDx:
Viral and reactive arthritis
Connective tissue disease e.g. SLE, scleroderma
Polymyalgia rheumatica
Osteoarthritis
Septic arthritis
100
What is rheumatoid arthritis?
Chronic inflammatory autoimmune disease with inflammation of synovial joints causing joint destruction.
101
How would you investigate for rheumatoid arthritis?
Bloods - ESR, CRP, plasma viscosity, FBC, LFTs, ANA (SLE but also positive in 30%).
Uric acid/synnovial fluid analysis.
Urinalysis.
Specific investigations: rheumatoid factor, anti-CCP; X-ray - soft tissue swelling, periarticular osteopenia, loss of joint space, erosions, and deformity.
102
How would you manage a patient with rheumatoid arthritis?
MDT approach with specialty rheumatology input, physiotherapy and occupational therapy.
DAS28 to montior disease activity.
NSAIDs for symptomatic treatment.
Glucocorticoids for flares.
DMARDs - oral methotrexate/leflunomide/sulfasalazine, can add in additional ones in step-up approach.
Biologics - TNF inhibitors (adalimumab), anti-interleukin-1, anti-CD20 (rituximab), anti-IL6 (tocilizumab).
Surgery - if intolerable pain or significant restrictions of joint movement.
103
What are the complications of rheumatoid arthritis?
Adverse effect on work and social life with depression
Inflammation of tendons and vessels.
Lungs - pleurisy, pleural effusions, pulmonary fibrosis.
Cardiac - pericarditis, pericardial effusions.
Felty's - enlarged spleen and low WCC.
Anaemia.
Complications from drugs - GI from NSAIDs, infection from steroids/immuonosuppressants.
104
What is the prognosis of rheumatoid arthritis?
Variable, 40% become disabled after 10 years.
105
Consultation - what are the symptoms of scleroderma?
Limited if impacting only the skin.
Raynaud's phenomenon.
Skin hardening in hands or face.
Oesophageal symptoms.
Nonspecific - fatigue, MSK pains, hand swelling, weight loss.
106
What examination features would you expect to see in scleroderma?
Hands - swelling, skin hardened and thickened, reduced hand movements, Raynaud's.
Calcinosis.
Face and mouth - tightening of facial skin, tights lips (microstomia).
Telangiectasia.
MSK - joint pain and swelling.
GI features - heartburn and reflux.
107
Given the findings of calcinosis, Raynaud's, oesophageal dysmotility, sclerodactyly, telangiectasia what is your preferred diagnosis and differentials?
Scleroderma - CREST
DDx:
Raynaud's phenomenon
Vibration
Connective tissue disease - RA, SLE
Amyloidosis
108
What is scleroderma?
Autoimmune disease with increased fibroblast activity causing abnormal growth of connective tissue. Greek for hard sign.
109
How would you investigate for scleroderma?
Bloods - FBC, ESR and CRP, U+Es, anti-Scl-70, anti-centromere antibody, anti-RNA polymerase III antibody.
Urine protein.
Hand X-ray for calcinosis.
Endoscopy if GI symptoms.
110
How would you manage a patient with scleroderma?
MDT approach with rheumatology input.
Conservative - patient eduction, physiotherapy and exercises, emollients.
Immunotherapy - methotrexate, mycophenolate mofetil, cyclophophamide.
Management of problems: Raynaud's - nifedipine; calcinosis - surgical removal if severe.
111
What are the complications of scleroderma?
Malignancy - lung, breast, haematological
Sjogren's syndrome
Depression
Osteoporosis
112
What is the prognosis of scleroderma?
Very variable depending on extent of disease and complications, overall 75% 5 year survival.
113
Consultation - what are the symptoms of Sturge-Weber syndrome?
Birthmark - port-wine.
Focal tonic-clonic seizures.
Developmental delay and LD.
Headaches.
114
What examination features would you expect to see in Sturge-Weber syndrome?
Port-wine birthmark - particularly trigeminal nerve region.
Capillary malformation.
Macular lesions.
115
Given the findings of port wine stain on the face what is your preferred diagnosis and differentials?
Sturge-Weber syndrome
DDx:
Facial naevi
116
What is Sturge-Weber syndrome?
Neurocutaneous disorder including a port-wine stain, vascular eye abormalities, and angiomas.
117
How would you investigate for Sturge-Weber syndrome?
Imaging - MRI
EEG
118
How would you manage a patient with Sturge-Weber syndrome?
MDT approach
Antiepileptics
Antiglaucoma drugs
Laser therapy for port-wine stain
119
What are the complications of Sturge-Weber syndrome?
Intellectual disabilities or developmental delay
Seizures
Glaucoma
120
What is the prognosis of Sturge-Weber syndrome?
High chance of seizures and intellectual disability.
121
Consultation - what are the symptoms of tophaceous gout?
Acute pain in a joint, inflammation peaks within 24 hours.
70% of first attacks are first MTP.
Fever and malaise.
122
What examination features would you expect to see in tophaceous gout?
Synovitis and swelling with tenderness and overlying erythema.
Can have crystal deposits with irregular firm nodules if chronic.
Tophi - asymmetrical with chalky appearance beneath the skin.
123
Given the findings of swollen, painful first metatarsophalangeal joint what is your preferred diagnosis and differentials?
Tophaceous gout
DDx:
Septic arthritis
Rheumatoid arthritis
Osteoarthritis
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What is tophaceous gout?
Arthritis due to deposition of monosodium urate crystals in the joints causing acute inflammation and eventual tissue damage.
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How would you investigate for tophaceous gout?
Clinical diagnosis if obvious
MSU crystals in synovial fluid or tophi confirms diagnosis
Raised serum uric acid levels
X-rays in chronic gout - punched-out lesions, areas of sclerosis, tophi
Ultrasound, CT or MRI - urate deposition, structural joint damage, joint inflammation in gout
Fasting glucose and lipids due to association with metabolic syndrome
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How would you manage a patient with tophaceous gout?
General points - ice pack, elevation and avoid trauma
Medical - NSAIDs, colchicine, corticosteroids.
Prophylaxis - allopurinol
Follow up - check serum urate, consider long-term urate-lowering therapy (if multiple flares, CKD, diuretics, tophi, chronic arthritis)
Healthy, balanced diet
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What are the complications of tophaceous gout?
Renal disease - chronic urate nephropathy
Severe degenerative arthritis
Secondary infections
Recurrent painful episodes
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What is the prognosis of tophaceous gout?
First attack resolves within 3-10 days.
Recur in 62% of people within a year.
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Consultation - what are the symptoms of tuberous sclerosis?
Seizures, hypomelanotic macules as infants or children.
Adults - renal angiomyolipoma, periungal fibroma.
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What examination features would you expect to see in tuberous sclerosis?
Fingernail and toenail fibromas
Forehead plaques
Shagreen patches
Developmental disability
Retinal hamartomas
Learning disabilities
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Given the findings of hypomelanotic macules, ungual fibromas, Shagreen patch, retinal hamartomas what is your preferred diagnosis and differentials?
Tuberous sclerosis
DDx:
Seizures
Isolated skin lesions
Cystic lung disease
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What is tuberous sclerosis?
Inherited neurocutaneous disorder with pleomorphic features involving multiple organ systems.
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How would you investigate for tuberous sclerosis?
Retinal examination - for tumours
Skin examination
MRI head and kidneys - tumours
EEG - epilepsy
Bloods - TSC1/2 variant
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How would you manage a patient with tuberous sclerosis?
MDT approach - with monitoring in specialist clinics
Skin - sun cream, surveillance, intervention if changing lesion
Ophthalmic - annual examination
Cardiac - rhabdomyomas regress spontaneously but may need resecting
Renal - angiomyolipomas and cystic disease should be monitored with MRIs
Counselling and gene counselling
Treat epilepsy
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What are the complications of tuberous sclerosis?
Epilepsy
Learning disability
CKD and pulmonary complications
Increased risk of cancer
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What is the prognosis of tuberous sclerosis?
Progressive disorder with variable severity. Complications in major organ systems are the predominant source of morbidity.
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Consultation - what are the symptoms of vitiligo?
Can have itching at new lesions but mostly asymptomatic
Psychosocial impact is huge
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What examination features would you expect to see in vitiligo?
Clearly circumscribed areas of whiteness, flat, non-scaly, often bilateral and symmetrical
Hair can be white/grey
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Given the findings of what is your preferred diagnosis and differentials?
Vitiligo
DDx:
Tinea versicolor
Idiopathic guttate hypomelanosis
Tuberous sclerosis
Post-inflammatory hypopigmentation
Leprosy
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What is vitiligo?
Acquired autoimmune condition with selective loss of melanocytes leading to chalky-white macules.
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How would you investigate for vitiligo?
Clinical diagnosis
Check for associated disease - diabetes, pernicious anaemia, thyroid disease, Addison's disease
Wood's light can exclude fungal infections (fluoresce in UV light)
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How would you manage a patient with vitiligo?
General measure - protect against sun exposure, minimise skin injury
Monitor for other autoimmune conditions
Camouflage
Topical corticosteroids/calcineurin inhibitors
Phototherapies
Oral corticosteroids or immunosuppressants
Surgical - top layer of skin removed and replaced with pigmented skin
Psychological support
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What are the complications of vitiligo?
Psychosocial impact
Skin more prone to burning and skin cancer
Atrophy if long-term topical steroids used
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What is the prognosis of vitiligo?
Variable - can stabilise, rarely resolves, can progress
