Familial Transthyretin Amyloidosis with Variant Asp38Ala Presenting with Orthostatic Hypotension and Chronic Diarrhea.
A 53-year-old man complained of orthostatic, non-rotating dizziness, and chronic watery diarrhea of several years duration. His nerve-conduction velocity test revealed peripheral sensory-motor polyneuropathy and he showed an autonomic function abnormality. Echocardiographic examination showed ventricular and atrial wall thickening with a granular "sparkling" appearance. Left ventricular systolic function was preserved but pseudonormal diastolic dysfunction was present. Coronary angiography showed normal coronary arteries and an endomyocardial biopsy revealed lesions consistent with cardiac amyloidosis. Colonoscopic biopsy also revealed the deposition of amyloid fibrils. Gene analysis found the transthyretin variant Asp38Ala. His son had same mutation, but three daughters did not. In conclusion, we report a case of familial transthyretin amyloidosis with Asp38Ala.
Division of Cardiology, Department of Internal Medicine, Kyungpook National University Hospital, Daegu, Korea.
Hyun Jun
HJ
Cho
Jae Yong
JY
Yoon
Myung Hwan
MH
Bae
Jang Hoon
JH
Lee
Dong Heon
DH
Yang
Hun Sik
HS
Park
Yongkeun
Y
Cho
Shung Chull
SC
Chae
Jae Eun
JE
Jun
Amyloidosis; Asp38Ala; Orthostatic hypotension; Polyneuropathy; Transthyretin