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Fabry disease
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Fabry disease

Fabry disease is an inherited disorder caused by mutations in the GLA gene that lead to buildup of globotriaosylceramide, resulting in pain, skin lesions, and potentially life‑threatening organ damage.

Overview

Fabry disease is an inherited disorder that results from the buildup of a type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness or streaks in the front part of the eye (corneal opacity or corneal verticillata); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Additional signs and symptoms are possible, which can vary among affected individuals.

Fabry disease also involves potentially life‑threatening complications such as progressive kidney failure, heart failure, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and typically involve only the heart, kidneys, or blood vessels in the brain.

Frequency

Fabry disease affects an estimated 1 in 1,000 to 9,000 people. Milder, late‑onset forms of the disorder are probably more common than the classic, severe form.

Causes & Risk Factors

Fabry disease is caused by variants (also known as mutations) in the GLA gene. This gene provides instructions for making an enzyme called alpha‑galactosidase A. This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. Alpha‑galactosidase A normally breaks down a fatty substance called globotriaosylceramide. Variants in the GLA gene alter the structure and function of the enzyme, preventing it from breaking down this substance effectively. As a result, globotriaosylceramide builds up in cells throughout the body, particularly cells lining blood vessels in the skin and cells in the kidneys, heart, and nervous system. The progressive accumulation of this substance damages cells, leading to the varied signs and symptoms of Fabry disease.

GLA gene variants that result in an absence of alpha‑galactosidase A activity lead to the classic, severe form of Fabry disease. Variants that decrease but do not eliminate the enzyme's activity usually cause the milder, late‑onset forms of Fabry disease that typically affect only the heart, kidneys, or blood vessels in the brain.

Frequently Asked Questions

Kidney involvement can develop in the second or third decade of life. Baseline evaluation should include serum creatinine, estimated glomerular filtration rate (eGFR), urine albumin‑to‑creatinine ratio, and blood pressure measurement. Annual monitoring is recommended, with more frequent testing if albuminuria or eGFR decline is noted. Early detection allows timely initiation of renoprotective measures such as ACE inhibitors or ARBs.
While no diet or exercise can replace enzyme therapy, a heart‑healthy diet low in saturated fats and sodium, regular moderate exercise, and weight control can support cardiovascular and renal health. Patients should also avoid dehydration and extreme temperature changes, which can trigger pain flares. Regular follow‑up with a multidisciplinary team helps adjust lifestyle recommendations as the disease progresses.===
Fabry disease can begin in infancy or early childhood. Parents should watch for unexplained episodes of burning or tingling pain in the hands and feet (acroparesthesias), clusters of small dark red spots on the skin called angiokeratomas, reduced sweating, and eye changes such as corneal verticillata. If any of these signs appear, a pediatrician should refer for a genetic test of the GLA gene and an enzyme activity assay.
The mainstay of pain management is enzyme replacement therapy (ERT) with agalsidase alfa or beta, which supplies the missing alpha‑galactosidase A enzyme and reduces substrate buildup. Adjunctive pain control includes anticonvulsants (gabapentin, pregabalin), non‑steroidal anti‑inflammatory drugs, and, when appropriate, opioid analgesics. ERT can lessen pain frequency and intensity, but patients often need a multimodal pain plan tailored by a pain specialist.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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