An unusual case of familial lymphedema

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.