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.