A 62-year-old man presented with a personal history of hypohidrosis and acroparesthesia
from childhood, hypertension over the last 20 years, started with cardiologic controls because of palpitations and dyspnea 20 years ago.
On examination, the following is found: preserved vital signs with normal blood pressure, weight 52 kg, height 151 cm, rare bronchospasms, mild acroparesthesias
with good response to carbamazepine 200 mg/day, and few periumbilical angiokeratomas (Figure 1).
Clinically the patients present with acroparesthesia
, ankiokeratoma and hypohydrosis of the skin in the early stage of the disease, and progressive involvement of the brain, heart, and kidneys after middle ages.
Male patients were more likely affected by angiokeratomas (treated 91.7%/nontreated 71.5%), acroparesthesia
(83.3% versus 50%) and tinnitus (66.6% versus 50%), or renal dysfunctions (58.3% versus 50%).