Muckle Wells syndome

Presented on 5th February 2009 by Dr Clive Grattan

Case presentation

A 30-year old woman presented with lifelong urticaria, sensorineural deafness and proteinuria. His mother developed renal failure during her 40's

Relevant abnormal tests only

CRP raised at 45 mg/l, total urinary protein 2g/24 hour, CIAS1 mutation identified. Skin biopsy showed neutrophils around appendages but no vasculitis. Renal biopsy showed amyloid deposition. A SAP scan showed increased uptake in the kidneys consistent with early deposition of amyloid

Relevant normal or negative tests only

Blood biochemistry, electrophoresis and CT scan of head

Management

Multiple therapies including prolonged courses of oral corticosteroids were given without complete suppression of symptoms. She responded dramatically to anakinra 100 mg s/c daily with immediate improvement in his constitutional symptoms and disappearance of the urticaria. They returned within days of stopping treatment. Two months after starting treatment the SAP scan was normal suggesting reversal of amyloidosis

Final diagnosis or diagnoses

Muckle Wells Syndrome with secondary nephrotic syndrome due to amyloidosis

Summary Learning Points

• Chronic urticaria has a wide spectrum of presentations. Fever and raised inflammatory indices in a patient with early onset chronic persistent urticaria should raise the possibility of an autoinflammatory syndrome
• The new umbrella term for Muckle Wells syndrome and Familial Cold Urticaria is Cyropyrin Associated Periodic Syndrome(CAPS)
• Novel treatments are transforming the management of these patients, including the interleukin 1 receptor antagonist, anakinra

Key points of the Discussion

• Cryopyrin associated periodic syndrome may present to the dermatologist with chronic urticaria
• Dermatologists can play a key role in the early detection and management of these patients

Win £100 for the best case presentation

Win £500 for the best undergraduate essay