Role of autonomic nerve functions in patients with familial amyloidotic polyneuropathy as analyzed by laser doppler flowmetry, capsule hydrograph, and cardiographic R–R interval

Abstract

Laser Doppler flowmetry (LDF) was conducted on familial amyloidotic polyneuropathy (FAP) patients and asymptomatic carriers of FAP. Vasoconstrictive responses in the 11 FAP patients tested, induced by deep inspiration, were markedly depressed compared with those of the healthy controls. The responses decreased with the progression of FAP, with no responses being elicited from the 7 patients in stages 2 (moderate) to 4 (terminal). Interestingly, vasoconstrictive responses following deep inspiration also were depressed in 3 of 4 asymptomatic carriers of FAP who showed no clinical sign of FAP, and who had normal sensory nerve conduction velocity. Patients who had such diseases as Shy-Drager's disease, spinocelebellar degeneration, and pandysautonomia showed no decrease in blood flow for various stimulations. In contrast, patients with primary amyloidosis, who had no autonomic dysfunction, showed a normal pattern. Detection of the autonomic functions in FAP patients and asymptomatic carriers by capsule polyhydrography and computer analysis of the cardiographic R-R interval revealed that the asymptomatic carriers of FAP, as well as the FAP patients, had disordered peripheral autonomic functions. Our results suggest that the autonomic nervous system is first affected during the very early stage of FAP.

Liver transplantation for hereditary transthyretin amyloidosis

“…17,20,64 Circulatory complications during liver transplantation are reported in several series 54,[65][66][67] and are more common in patients with FAP than in patients who undergo transplantation for liver disease. 68 Intraoperative and postoperative hypotension are serious problems that do not appear related to amyloid deposits in the heart or conduction abnormalities.…”

“…[9][10][11][12][13][14][15][16] Autonomic nervous system dysfunction is often present early during the course of the disease, causing severe orthostatic hypotension and impotence. 6,[16][17][18][19][20][21] In the final stage of the disease, the patients are severely incapacitated, bedridden or bound to a wheelchair, malnourished, and have urinary and fecal incontinence. [6][7][8] Symptoms from the eye are common, and amyloid deposits in the corpus vitrium may lead to blindness if left untreated.…”

Transthyretin and Familial Amyloidotic Polyneuropathy.

“…1). A recent study of peripheral autonomic dysfunction by laser Doppler flowmetry revealed that autonomic nerves are first impaired in FAP patients (8).…”

Impact of liver transplantation on autonomic neuropathy in familial amyloidotic polyneuropathy: an evaluation by spectral analysis of heart rate variability

“…The disease is characterized by a progressive peripheral and autonomic polyneuropathy [2][3][4]. The patients are in the later stages of the disease severely incapacitated, bedridden or in a wheelchair.…”

“…Autonomic nervous dysfunction is found in FAP patients early after onset of the disease [3,4] Autonomic disturbances disrupt blood pressure regulation, which sometimes leads to fatal complications during liver transplantation for FAP [5]. Severe malnutrition develops subsequently in all FAP patients, and the development of malnutrition may be linked to autonomic dysfunction [6].…”