Generalized Amyloid in a Family of Swedish Origin

Abstract

A kinship with systemic amyloid presenting as peripheral neuropathy in the 4th and 5th decades of life is reported. A progressive sensory and motor loss starting in the lower extremities occurs from this disease, and there is subsequent renal, cardiac, gastrointestinal, ocular and cutaneous involvement. Histologic studies show that amyloid deposition is mainly in connective tissue structures; there is an unusual infiltration of the meninges and CNS. Family members (426) in 7 generations showed that this disease is inherited as an autosomal dominant. The absence of immunoglobulin disorders in 2 affected family members suggests that this is not the primary type of amyloid in which the deposits are composed of fragments of immunoglobulin L chains. Similarly the absence of elevated levels of protein SAA (the serum precursor of secondary amyloid) suggests that this is not a secondary form of amyloid.