Penicillamine

Abstract

Systemic vasculitis: case report A 50-year-old man developed systemic vasculitis during treatment with penicillamine for Wilson’s disease. The man was referred to hospital with eight months history of severe atraumatic left calf pain in association with increasing lethargy, weight loss and progressive limb weakness. His clinical examinations showed proximal weakness of his upper and lower limbs, hyperreflexia and generalised tenderness over the bilateral calf and arm muscles, and erythematous, maculopapular rash over his chest and thighs. His history included Wilson’s disease (diagnosed at the age of 12 years), and had been receiving penicillamine [D-penicillamine; route and dosage not stated]. His subsequent examinations were normal with no cerebellar signs or parkinsonism. At the time of admission, an elevation in aldolase, inflammatory markers, double-stranded DNA antibodies, anti-ribonuclear protein, anti-Smith titres and anti-PR3 positivity were noted. His antinuclear antibody and myositis panel were found to be negative with a low complement component 3 (C3) level and proteinuria. Left lower limb MRI showed increased STIR-signal in all compartments, and the whole spine MRI demonstrated enhancement in the paravertebral muscles. Electrodiagnostics showed asymmetric sensorymotor axonal peripheral neuropathy, suggested vasculitic neuropathy. Subsequent brain MRI showed new cortical and subcortical T2/FLAIR hyperintense foci. Intracranial vessels CT-angiography showed beading of medium-sized intracranial vessels. CSF study showed no cellularity and negative microbiological studies with protein elevation. A skin biopsy demonstrated medium vessel vasculitis. Based on the presenting symptoms and investigational findings, he was diagnosed with penicillamine-induced systemic vasculitis, which manifested as proteinuria, myositis, CNS involvement, vasculitic rash and constitutional features [duration of treatment to reaction onset not stated]. The man’s penicillamine treatment was stopped. He was continued on zinc monotherapy and treated with cyclophosphamide and high-dose unspecified glucocorticoids. Eventually, one month after the initiation of treatment, an improvement in his symptoms, muscle strength, inflammatory markers and MRI lesions were noted.