The main features of the disease are caused by
the deposit of the glycolipid (Gb3) in the vascular endothelium, smooth
muscle cells, renal epithelium, myocardium, dorsal root ganglia, autonomic
nervous system, and brain. Clinically, it translates into stroke,
progressive renal failure with proteinuria, cardiac hypertrophy,
arrhythmias, valvular insufficiency, and myocardial infarction. Other
manifestations of the disease are progressive sensorineural hearing loss,
vertigo, postprandial abdominal cramps, and achalasia. Pain in the hands and
feet as a result of neuropathy is common. Skeletal involvement translates to
arthralgia, articular erosion, avascular necrosis, and limitation of the
temporomandibular joint. As the disease evolves, the lungs become involved
and pulmonary function tests show an obstructive disease. Finally, they
present characteristics of angiokeratomas in the skin and mucous membranes,
corneal abnormalities, and a lack of sweating.