Inherited predisposition to generalized amyloidosis

RECENT CONTRIBUTIONS have adequately reviewed the present status of our knowledge about amyloidosis.l-21 The challenge to unravel the pathogenesis of this disorder is now being met with increasing effort. The identification of a characteristic ultrastructure of amyloid has been a substantial step forward,l7 and biochemical and immunologic studies are currently of major interest.21 Study of a kindred with amyloidosis is another approach to investigation of this disorder. Several families with amyloidosis have been described and a pattern of dominant inheritance has emerged.zY-:+a Efforts to subclassify the family groups by symptoms have been of limited success. We are reporting a family in whom pathologic verification of amyloidosis has been possible in 8 members of 2 generations, including 3 father-son relationships. Clinical manifestations of the disease have arisen principally from involvement of the peripheral nervous system and the kidney and from peptic ulcer. Discovery of this afflicted family began with an effort to ideiitify the cause of peripheral neuropathy in patient 20 of the third generation (Fig. l ) . Investigation revealed that a brother, patient 23, also suffered from peripheral neuropathy, which had been explained by amyloid infiltration of neural tissue. Crmwlogy. The ancestors of our family immigrated from Scotland, England, and Ireland. Members 3 from England and 4 from Canada lived in Indiana for some years before moving