A 35-year-old Latin-American gentleman male with a history of Fabry’s disease presented for continuation of recombinant ceramide trihexosidase infusion therapy. Because of a prior allergic reaction, the patient was admitted to the intensive care unit during his infusion. He was first diagnosed in 2000, by genetic testing due to a strong male family history of the disease and had been receiving infusions every two weeks since 2007. Alpha-galactosidase A level was 0.001%. He reported a history of anhidrosis, blurry vision, fatigue, headache, acroparesthesia, vertigo and diffuse angiokeratomas. These angiokeratomas (Figures 1 and 2), had a “bathing-trunk” distribution, but were also present in the inner labial mucosa as well as palms of the hands. Urinalysis showed microscopic hematuria without proteinuria. Renal function tests included a creatinine level of 0.7 mg/dL and a creatinine clearance of 124 mL/min/1.73 m2. Cardiac evaluation, including electrocardiography and echocardiogram were within normal limits.
Fabry’s disease has X-linked inheritance on chromosome q22.1 with 504 different known mutations. (1) It has a worldwide prevalence of approximately 1 in 40,000 to 1 in 117,000 live births for the classic form of the disease. (2) Women can also be affected with variable presentation due to lyonization. Manifestations include cardiac, renal, neurologic, ophthalmic, gastrointestinal and dermatologic involvement. With continued enzyme therapy this patient will hopefully continue without major end organ damage, although he requires carbamazepine to treat his neuropathic pain.
Ruth L. Wintz, Joseph Varon, Raul G. Mendez Flores, Stephanie C. Fuentes Rojas
Ruth L. Wintz, Joseph Varon, Raul G. Mendez Flores, Stephanie C. Fuentes Rojas
