title: An unusual case of familial lymphedema.
abstract: A 47-year-old man with stable stage II chronic kidney disease and episodic diarrhea presented with chronic, progressive bilateral lower extremity lymphedema. His mother and 2 brothers had similar acral swelling. Thus, a diagnosis of typical primary familial lymphedema was suspected. Approximately 1 year later, progressive azotemia and proteinuria ensued. A renal biopsy suggested Fabry disease, which was confirmed by enzymatic and genetic testing. In addition, Fabry disease was diagnosed in his mother and 2 male siblings with lower extremity lymphedema. As this case illustrates, Fabry disease is an underappreciated and often unrecognized cause of familial lymphedema.
authors: Division of Cardiovascular Medicine, The Ohio State University Wexner Medical Center, Columbus, OH. Electronic address: steven.dean@osumc.edu.
authors: Steven M
authors: SM
authors: Dean
authors: Division of Vascular Diseases and Surgery, The Ohio State University Wexner Medical Center, Columbus, OH.
authors: Jean
authors: J
authors: Starr
mesh_terms: D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D035002:Lower Extremity; D008209:Lymphedema / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008875:Middle Aged