Which condition presents with parasethesia in extremities, a reddish-purple rash, cataracts, and potential kidney or heart failure?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

The condition that presents with paresthesia in the extremities, a reddish-purple rash, cataracts, and potential kidney or heart failure is Fabry's Disease. This disease is a type of lysosomal storage disorder resulting from a deficiency of the enzyme alpha-galactosidase A, leading to the accumulation of globotriaosylceramide (Gb3) in various tissues.

Patients with Fabry's Disease experience neuropathic pain and paresthesias due to the deposition of glycosphingolipids in the nerve tissues. The characteristic reddish-purple rash is known as angiokeratomas, which typically appears in the bathing trunk distribution. Cataracts can also occur as a result of the accumulation of specific substances in the eye. Furthermore, individuals may develop renal complications, including proteinuria, leading to progressive kidney failure, and cardiovascular issues owing to vascular involvement and accumulation in cardiac tissues.

This comprehensive symptom profile clearly links Fabry's Disease to the clinical manifestations described in the question, making it the correct answer. Understanding these specific features can help differentiate Fabry's Disease from other lysosomal storage disorders and related conditions.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy