Abstract

A patient with Portuguese familial amyloid polyneuropathy who developed haemarthroses secondary to pathological fractures is described. Amyloid material was demonstrated on bone biopsy and confirmed immunohistochemically to be transthyretin (prealbumin). Although amyloid deposits in bone have been described in other types of amyloid, this is believed to be the first proved case of amyloid deposition resulting in pathological fracture in familial amyloidosis.