Portuguese Type of Familial Amyloid Polyneuropathy

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Abstract
A family is reported, in which a Portuguese father and four Brazilian siblings are affected by Andrade’s familial amyloid polyneuropathy (FAP). The father was studied in 1940 and was the first case of FAP reported in the literature, though not identified as such at that time. Three siblings died as consequence of FAP. A comparative study of the clinical profiles is correlated to the pathological findings obtained in four autopsies. Besides the classical neurologic and digestive disturbances, the following are worth mentioning: severe thickening of the leptomeninges due to amyloidosis (cases 1 and 2) with contrast retention in myelography (case 2), unusual pathologic evolution of an elbow fracture (case 3), intense renal involvement (case 3) and Argyll Robertson sign (cases 2 and 3).

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