Pain

Two types of pain are common in patients with Fabry disease: acroparesthesia and Fabry pain crisis.

Acroparesthesia

Intermittent acroparesthesias, described as chronic, nagging, tingling, burning pain in the hands and feet, occur in the majority of hemizygotes, and in less than 10% of heterozygotes.1 This pain usually begins in childhood and persists through adulthood.

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 crisis

Episodes of acute, agonizing pain, typically beginning in the extremities and radiating inward, may persist from minutes to several days.1,4 For perhaps 90% of hemizygous males, these “Fabry pain crises” are the Fabry disease symptom that first brings them to seek medical attention.

The crisis may be triggered by illness, exercise, fatigue, stress, or weather changes. Because the pain is usually accompanied by fever and elevated erythrocyte sedimentation rates, it may be diagnosed as pain of rheumatic origin. Fabry pain crises may also manifest as acute abdominal pain, and be diagnosed as appendicitis or renal cholic.1

With adulthood, many patients find that Fabry pain crises diminish or disappear; others find that they become more frequent and intense.1

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References:

1. Desnick RJ, YA Ioannou, CM Eng. α-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, PJ Dyck. Loss of small peripheral sensory neurons in Fabry disease. Arch Neurol. 1974;31:6.

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

4. Morgan SH, P Rudge, SJ Smith, et al. The neurological complications of Anderson-Fabry disease (α-galactosidase A deficiency)--investigation of symptomatic and presymptomatic patients. Q J Med. 1990;75:491-507.