Autonomic Dysfunction with Orthostatic Hypotension1,2

Summary: Three cases of orthostatic hypotension with autonomic failure are presented and the physiological tests which were performed to assess the extent of their autonomic loss discussed. In one patient, the diagnosis of widespread amyloid disease was made at autopsy, while in another patient, who is still living, amyloid material was found in a biopsy from the sural nerve. In both patients, rectal biopsy had been negative for amyloid. Rectal biopsy was also negative for amyloid in the third patient, though a sural nerve biopsy was not performed in her case. The treatment of orthostatic hypotension arising from autonomic failure is briefly discussed. Autonomic failure with orthostatic hypotension and loss of sweating was first described by Bradbury and Eggleston in 19251. Since then, several case reports have been published2,3 of patients who also had loss of sphincter control and impotence. The patients may be divided into two groups, i.e. a group where the symptoms are secondary to a recognised disease, such as diabetes mellitus, amyloidosis or tabes dorsalis, and a second group for which no cause can be found. This paper describes three patients with autonomic dysfunction and the physiological tests which were performed to assess the extent of their autonomic loss. One of the patients died and, at autopsy, was found to have widespread amyloid disease. Studies on the two other patients, still living, are reported, and in one, a brother of the deceased patient, nerve biopsy shows the presence of amyloid.