Fabry’s Disease with Familial Lymphedema of the Lower Limbs

Abstract

A 49 yr old man had Fabry''s disease (FD) as confirmed by histopathological findings of kidney and skin biopsies and enzymatic studies. Clinical symptoms mainly consisted in severe neurological involvement, and in conspicuous lymphedema of the lower limbs. Two deceased brothers of the patient were also affected with symptoms strongly suggesting FD and with the lymphedema of the lower limbs. The association of FD with familial lymphedema of the lower limbs is discussed. A lipid accumulation in the lymphatic and in the blood vessel wall is proposed as a possible explanation; the hypothesis of an inborn error in the development of the lymphatic system, controlled by a gene closely associated with the FD gene on the same chromosome can also be advanced.