Autonomic nervous system and cardiac involvement in familial amyloidosis, Finnish type (FAF).
Familial amyloidosis, Finnish type (FAF), is a gelsolin-related inherited systemic amyloidosis. We report autonomic nervous system and cardiac findings in a study of 30 FAF patients (18 females, 12 males aged 27-74 years; mean 53.9 years). Cardiovascular reflex tests showed a significant decrease in heart rate variation in FAF patients compared with healthy controls. Orthostatic hypotension was found in 9 of 28 FAF patients, but only in 3 of 69 controls. Signs of amyloid cardiopathy were rare at clinical examination and in radio-, echocardio- and electrocardiographic examinations. Histological and immunohistochemical studies revealed amyloid deposition and immunoreactivity against the gelsolin-related FAF amyloid subunit in autonomic nervous system structures and in cardiac tissue in 3 autopsied FAF patients. The results show that minor autonomic nervous system dysfunction can be found in FAF, while clinically significant amyloid cardiopathy or autonomic neuropathy is not characteristic of this type of amyloidosis.
Department of Neurology, University of Helsinki, Finland.
S
S
Kiuru
E
E
Matikainen
M
M
Kupari
M
M
Haltia
J
J
Palo
D000328:Adult; D000368:Aged; D000686:Amyloidosis / Q000150:complications / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D001341:Autonomic Nervous System / Q000473:pathology / Q000503:physiopathology*; D004452:Echocardiography; D005260:Female; D005387:Finland; D018260:Gelsolin / Q000235:genetics; D006321:Heart / Q000503:physiopathology*; D006339:Heart Rate; D006801:Humans; D007024:Hypotension, Orthostatic / Q000209:etiology; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009206:Myocardium / Q000473:pathology*; D017354:Point Mutation; D012021:Reflex, Abnormal; D014636:Valsalva Maneuver
D018260:Gelsolin