Fabry Disease - Pain

There are two types of pain common to Fabry disease: acroparesthesia and Fabry pain crises.

Acroparesthesia occurs in the majority of hemizygotes, and in less than 10% of heterozygotes.^[1] It is characterized by tingling, burning pain and discomfort in the palms of the hands and the soles of the feet.^[1] The accumulation of GL-3 in the walls of blood vessels in skin tissue leads to nerve fiber degeneration. Degeneration of small myelinated and unmyelinated fibers and/or loss of small peripheral sensory neurons in the dorsal root ganglia and small fiber dysfunction are thought to contribute to the characteristic acroparesthesia in Fabry disease.^{[2, 3]}

Fabry pain crises are episodes of acute agonizing pain, typically beginning in the extremities and radiating inward, lasting from several minutes to several days, and are often induced by emotional stress, changes in temperature, exercise, and/or fatigue.^[1]

Pain crises are often one of the first symptoms experienced in Fabry disease and may lead a child to his or her first Fabry-related physician visit. Because the pain is often accompanied by fever and elevated erythrocyte sedimentation rates, it may be erroneously identified as rheumatic in origin.^[4]

References

1. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill, 2001;3733-3774.

2.Ohnishi A, Dyck PJ. Loss of small peripheral sensory neurons in Fabry disease. Arch Neurol. 1974;31:120-126.

3.Hilz MJ, Stemper B, Kolodny EH. Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients. Pain. 2000;84:361-365.

4.Paira SO, Roverano S, Iribas JL, Barcelo HA. Joint manifestations of Fabry's disease. Clin Rheumatol. 1992;11:563-565.