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Fabry disease — an inherited enzyme deficiency that deposits fats in kidneys, heart, and nerves. The burning-pain attacks, kidney progression, and enzyme-replacement therapy.
Evidence reviewed & updated: 2026-08 — reflects the latest published trials and guidelines.
Fabry disease is a rare X-linked lysosomal storage disease: a missing enzyme (alpha-galactosidase A) lets fatty substances (Gb3) accumulate in cells — classically causing burning pain in hands and feet from childhood, plus progressive kidney, heart, and brain damage. Enzyme replacement therapy and oral chaperone therapy, started early, change the course.
Fabry disease results from mutations in the GLA gene, causing deficiency of alpha-galactosidase A. Without the enzyme, globotriaosylceramide (Gb3) accumulates inside cells — in nerves (burning pain), the kidney's podocytes and vessels (proteinuria and decline), the heart (hypertrophy, arrhythmias), and the brain (strokes).
The burning hand-and-foot pain and pain crises are often the first clue in childhood; many patients are diagnosed late, after years of 'growing pains' — the average diagnostic delay is over a decade.
The kidneys accumulate Gb3 in podocytes and vascular cells, causing proteinuria that appears in the teens-20s and a slow eGFR decline. Untreated men commonly reach kidney failure between their 30s and 50s; women are variable — some severely affected.
Screening: any young adult with unexplained proteinuria, chronic kidney disease of uncertain cause, or a family history of early strokes/heart failure should be tested for Fabry (enzyme assay + genetic test).
Enzyme replacement therapy (agalsidase alfa or beta, IV infusions every 2 weeks) is the mainstay — it clears substrate, reduces pain crises, stabilizes proteinuria, and slows heart and kidney damage when started early. Migalastat, an oral chaperone, works for patients with amenable mutations.
Supportive care: ACEi/ARB for proteinuria, pain management, anticoagulation for stroke prevention, and monitoring of heart and kidneys. Transplant is successful in Fabry kidney failure (and continued enzyme therapy matters post-transplant).
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