RATIONALE Angiokeratomas are the earliest manifestation of Fabry disease (FD), and the extent of their appearance is related to disease severity. Angiokeratomas are mostly found on cutaneous regions. PATIENT CONCERNS, DIAGNOSES, INTERVENTIONS, AND OUTCOMES Here we report an FD patient with widespread gastrointestinal angiokeratomas who developed life-threatening bleeding following anticoagula...

Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy. Angiokeratomas are asymptomatic lesions present as the initial manifestation and usually less appreciated. Their detection is important for early diagnosis ...

ROGER REVELLE MARGARET MEAD WILLIU Retiring President, Chairman President Presid MATHEMATICS (A) PHYSICS (B) victor L. Klee Victor F. Weisskopt Truman A. Botts Rolf M. Sinclair PSYCHOLOGY (J) SOCIAL AND ECONOMIC SCIENCES (K) Richard C. Atkinson Seymour M, Lipset Edwin P. Hollander Daniel Rich EDUCATION (Q) DENTISTRY (R) PHARI F. James Rutherford Clifton 0. Dummett James Phillip R. Fordyce Sholo...

early diagnosis (often based on the detection of angiokeratomas) is important, as timely treatment can prevent the development of serious, irreversible complications. Dermatologists can play a key role in this respect. Enzyme replacement therapy (with agalsidase alpha) is the only specific treatment available for Fabry disease, and has been shown to stabilize renal function and reduce left vent...