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A case of systemic pseudo-pseudoxanthoma elasticum with diverse symptomatology caused by long-term penicillamine use
A P Coatesworth1, S J Darnton, R M Green
1Department of Thoracic Surgery, Birmingham Heartlands Hospital, UK.
Abstract:
A 47 year old man presented with a two year history of increasing cervical dysphagia, dyspnoea, and cutaneous signs. He had been diagnosed 27 years previously with Wilson's disease and was treated with penicillamine (1.5 g daily). Systemic abnormality of elastic fibres was confirmed by light and electron microscopy following biopsy of skin, lung, oesophageal muscle, gum, pharyngeal tissue, and cervical connective tissue. Dysphagia was relieved by cricopharyngeal myotomy. Substitution of trientene dihydrochloride for penicillamine relieved cutaneous and systemic manifestations. This is possibly the first case demonstrating an association between prolonged penicillamine use and biopsy proved systemic pseudo-pseudoxanthoma elasticum. The presenting symptoms may have resulted from the abnormal numbers and properties of elastic fibres, and the changes were caused by penicillamine use, rather than by idiopathic, inherited pseudoxanthoma elasticum.
Insights
Prolonged penicillamine treatment for Wilson's disease may induce systemic pseudo-pseudoxanthoma elasticum, affecting elastic fibers. Switching medication resolved symptoms, suggesting a drug-induced etiology rather than inherited disease.
Area of Science:
- Medical Genetics
- Dermatology
- Gastroenterology
Background:
- Wilson's disease is a genetic disorder of copper metabolism.
- Penicillamine is a chelating agent used to treat Wilson's disease.
- Cutaneous and systemic manifestations can occur in Wilson's disease.
Observation:
- A 47-year-old man with Wilson's disease on long-term penicillamine presented with dysphagia, dyspnoea, and skin changes.
- Biopsies confirmed systemic abnormalities in elastic fibers.
- Symptoms improved after cricopharyngeal myotomy and switching to trientene dihydrochloride.
Findings:
- This case suggests a potential association between prolonged penicillamine use and acquired pseudo-pseudoxanthoma elasticum.
- Abnormal elastic fibers, confirmed histologically, likely caused the patient's symptoms.
- The findings indicate a drug-induced condition rather than idiopathic inherited pseudo-pseudoxanthoma elasticum.
Implications:
- Highlights a rare adverse effect of penicillamine therapy.
- Suggests considering drug-induced elastopathy in patients with connective tissue abnormalities.
- Informs differential diagnosis for dysphagia and dyspnoea in patients with Wilson's disease on penicillamine.