Fabry's disease with familial lymphedema of the lower limbs. Case report and family study

The case of a 49-yr-old man with Fabry's disease (FD), confirmed by histopathological findings of kidney and skin biopsies and enzymatic studies, is reported. 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, as well as with lymphedema of the lower limbs. On the basis of these data, the association of FD with familial lymphedema of the lower limbs is discussed: a lipid accumulation in the lymphatic as well as 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.