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Stem
A 29-year-old man of Turkish origin presents to the rheumatology clinic with a 4-year history of recurrent painful oral aphthous ulcers (six to eight episodes per year) and recurrent scrotal ulcers that heal with scarring. Over the past two weeks he has developed pain and redness in his right eye with blurred vision. He has also noticed tender red nodules on his shins. On slit-lamp examination he has panuveitis with cells and flare in the anterior chamber and evidence of retinal vasculitis on funduscopy. His inflammatory markers are raised (CRP 62 mg/L). His ANA, ANCA and rheumatoid factor are negative.
Questions
a) What is the most likely diagnosis and on what basis? (2 marks)
The most likely diagnosis is Behçet's syndrome. The basis is the clinical ICBD criteria: recurrent oral aphthosis (2), genital aphthosis that scars (2), ocular lesions — panuveitis and retinal vasculitis (2), and skin lesions — erythema nodosum (1) — a score well above the threshold of at least 4. Supporting features are the Turkish (Silk Road) origin, the negative autoantibodies, and the relapsing multisystem pattern. There is no confirmatory blood test; diagnosis is clinical.
b) List four further investigations you would arrange and why. (2 marks)
- HLA-B51 typing — supportive (high in Silk Road populations), though not diagnostic alone.
- Ophthalmology fluorescein angiography — to stage retinal vasculitis and guide sight-preserving treatment.
- Vascular imaging (CT pulmonary angiography if any haemoptysis; Doppler ultrasound for DVT; CT/MR angiography) — to screen for arterial aneurysm (especially pulmonary artery) and venous thrombosis.
- Coagulation screen and FBC, U&E, LFT, glucose — typically normal; excludes a primary clotting disorder and baselines before immunosuppression. (Chest X-ray and ileocolonoscopy may be added if pulmonary or GI symptoms.)
c) Outline the management of this patient's disease. (4 marks)
- Mucocutaneous disease — colchicine 1 to 1.5 mg daily (especially erythema nodosum), topical corticosteroid mouthwash/cream; consider apremilast for refractory oral ulcers.
- Ocular disease (sight-threatening) — urgent ophthalmology referral; azathioprine as first-line steroid-sparing immunosuppression; corticosteroids (oral or IV pulses) for the acute flare; anti-TNF (infliximab or adalimumab) or interferon-alpha for severe/resistant retinal vasculitis.
- Vascular surveillance — counsel about haemoptysis (pulmonary artery aneurysm) and DVT; major vascular involvement would be treated with high-dose corticosteroids plus cyclophosphamide.
- Multidisciplinary follow-up (rheumatology + ophthalmology), PJP prophylaxis and bone protection if prolonged steroids, vaccination, and patient education on red flags.
d) Name two serious complications and one factor that worsens prognosis. (2 marks)
- Complications: blindness (untreated retinal vasculitis/uveitis); fatal haemoptysis from pulmonary artery aneurysm rupture (the major cause of death); venous thromboembolism, Budd-Chiari syndrome, or neurological deficit (neuro-Behçet).
- Prognosis is worsened by being a young man with vascular disease (other adverse factors: parenchymal neuro-Behçet, delayed treatment of ocular disease).