Familial cardiac amyloidosis. Diagnosis by immunocytochemistry.

Familial cardiac amyloidosis is a rare disorder that is difficult to diagnose. There is no specific therapy for this disease, but it is important to distinguish the cardiac and gastrointestinal symptoms of this disease from those of other treatable causes. We have treated a patient with this disorder who presented with cardiac and gastrointestinal symptoms. The diagnosis of amyloidosis was suspected on rectal biopsy and was confirmed by immunocytochemistry and immunoalkaline phosphatase technique. Pre-albumin was demonstrated in the lesion. We concluded that when familial amyloidosis is suspected, a biopsy from the suspected organ system is helpful for the diagnosis. The detection of pre-albumin by immunocytochemistry can elucidate the diagnosis of familial amyloidosis.