Late Onset Hereditary Amyloidosis in a Family From Texas
A new kinship of German-English ancestry with familial amyloid polyneuropathy (FAP) is described. Four siblings of a large Texan family have been studied with what appears to be an autosomal dominant transmission. The onset is very similar to the Andrade (Portuguese) type I FAP in that autonomic dysfunction and sensory findings precede motor involvement. This particular family however is unique in that the age of onset is the seventh decade in all members affected to date. Renal involvement appears to be less prominent and has occurred several years after onset of polyneuropathy symptoms. In contrast to other types of familial amyloid, scalloped pupils have not been seen. The clinical symptoms of cardiac and gastrointestinal involvement became manifest more slowly (10 or more years after first neuropathic symptoms) in this elderly onset Texan family. The pattern of disease, however, was similar to that of typical FAP type I. Immunohistochemical staining techniques have shown that the amyloid is prealbumin. These data indicate characteristics of FAP may be a broader continuum of disease processes rather than a single definite entity.
Since Andrade first described familial amyloidosis in Portugal in 1952 , several other types of familial amyloidosis have been described . The Portuguese form is manifest as a predominantly sensory peripheral neuropathy with autonomic nervous system involvement. This is transmitted as an autosomal dominant pattern. The age of onset is usually between 25 and 35 years and generally the course is probresive leading to death in 10 to 12 years. Similar clinical patterns have been described in Swedish [3, 4, 5], Japanese , and other , kindred. Other familial amyloid syndromes have been described with prominent upper extremity neuropathy but without the marked renal and autonomic involvement of the Portugese type patterns . More prolonged survival characterizes these latter types.
We describe here a family of German-English Ancestry with familial amyloid polyneuropathy. The affected family members have resembled more clinically the findings in the Andrade (Portuguese) type I with familial amyloid polyneuropathy , but this family appears unique in that the age of onset has been in the seventh decade in affected family members. Renal and ocular findings also have not been a prominent part of the disease. Immunocytochemical studies have shown prealbumin in biopsied amyloid tissue.
KeywordsNerve Conduction Velocity Affect Family Member Seventh Decade Sensory Peripheral Neuropathy Autosomal Dominant Pattern
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