Fabrys disease

An X-linked disorder of glycolipid catabolism, in which a deficiency of alpha-galactosidase A results in accumulation of glycosphingolipid deposits within the lysosomes of vascular endothelial cells. Cardiac problems are common. There is also a high incidence of thrombotic events leading to myocardial infarction and strokes. Abnormalities involve the skin, nervous system, eyes, heart, and kidneys (Peters et al 1997). In addition to the classical form, there is an atypical group of individuals who have cardiac involvement alone. In an unselected group of men with left ventricular hypertrophy, 3% had low levels of alpha-galactosidase (Nakao et al 1995).Anaesthesia may be required for cardiac transplantation.

Preoperative abnormalities

1. Childhood angiokeratoma, corneal dystrophy, and decreased sweating. Cutaneous telangiectatic lesions around the lower half of the body. Painful, burning, tingling sensations in the extremities, known as acroparaesthesia.This results from damage to small myelinated and unmyelinated cutaneous fibres.Autonomic neuropathy may be present.

2. Cardiac lesions are common; problems include restrictive cardiomyopathy, valvular disease, and heart block (Cantor et al 1998).

3. There is a high incidence of thrombotic events, leading to premature myocardial infarcts and strokes. In a study of 60 patients, four out of 45 hemizygous males, and three out of 15 heterozygous females, had had thrombotic events (Utsumi et al 1997). Cerebrovascular complications occurred at a young age (average 33.8 years hemizygotes and 40.3 years heterozygotes) (Mitsias & Levine 1996).They mainly involve the vertebrobasilar circulation and denote a poor prognosis. Diffuse neuronal involvement occurred outside the areas of vascular abnormality.

4. There is an association with airway

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