An atypical variant of Fabry's disease with manifestations confined to the myocardium

Fabry's disease is an inherited enzyme disorder that affects males, causing numbness or tingling in the hands and feet, warty growths on the skin, corneal opacity, and an inability to sweat normally. The heart muscle is also involved, with certain individuals experiencing angina pectoris (chest pain caused by transient reductions in blood flow to the heart) and abnormal electrocardiogram results. The disease is progressive, and complications involving the heart, kidneys, and blood circulation in the brain are common. After kidney dialysis became available, these patients began to live longer than the previous average of 41 years. Atypical variants of the disease include one in which only the heart muscle (myocardium) is affected. The case of a 54-year-old man with angina is presented, and a genetic study of the patient and members of his family is detailed. Fabry's disease can manifest itself in a variety of ways, with patients having only one or any combinations of symptoms. In one case, a man with no symptoms at all was identified accidentally. In the case presented in this article, symptoms of Fabry's disease only occurred after most patients would have died of the disease, and were probably the result of a mild variant form of the disease. The physiology of the mechanism of the variant is discussed. Patients with cardiac symptoms such as angina or exercise intolerance, and who have no underlying coronary artery disease or other evident cause, usually remain undiagnosed. In such cases, Fabry's disease should be considered. (Consumer Summary produced by Reliance Medical Information, Inc.)