[Durgical](https://durgical.com/en/) › [DurgiPedia](https://durgical.com/en/durgipedia/) › [Conditions](https://durgical.com/en/conditions/) › Fabry disease [Conditions](https://durgical.com/en/conditions/) · [Metabolism (biochemistry)](https://durgical.com/en/conditions/) # Fabry disease In Fabry disease a lipid builds up in blood vessels, kidneys, heart and nerves: it causes hand and foot pain and, over the years, organ failure. Updated 2026-11-01 ## Structures involved Tap one to see what it is and open it in 3D. - [Kidneys](https://durgical.com/en/anatomy/kidney/) - [Left ventricle](https://durgical.com/en/anatomy/left-ventricle/) - [Interventricular septum](https://durgical.com/en/anatomy/interventricular-septum/) - [Cornea](https://durgical.com/en/anatomy/cornea/) - [Skin](https://durgical.com/en/anatomy/skin/) - [Middle cerebral artery](https://durgical.com/en/anatomy/middle-cerebral-artery/) ## In biochemistry - [Lysosomal ganglioside breakdown: Step 4 · β-Galactosidase (galactocerebrosidase GALC or GLB1) with saposins](https://durgical.com/en/biochemistry/pathways/lysosomal-ganglioside-breakdown/#paso-4) - [Sphingolipids and sphingolipidoses](https://durgical.com/en/biochemistry/topics/sphingolipids-and-sphingolipidoses/) - [Lysosomal storage diseases](https://durgical.com/en/biochemistry/topics/lysosomal-storage-diseases/) - [α-Galactosidase A](https://durgical.com/en/biochemistry/enzymes/galactosidase-a/) - [Globotriaosylceramide (Gb3)](https://durgical.com/en/biochemistry/molecules/globotriaosylceramide/) ## Why it happens - [How a single gene causes disease: enzymes, receptors and structural proteins](https://durgical.com/en/general-pathology/how-a-single-gene-causes-disease-enzymes-receptors-and-structural-proteins/) ## What it is An X-linked sphingolipidosis caused by α-galactosidase A deficiency (GLA gene); globotriaosylceramide (Gb3) accumulates. ## Who gets it Estimated at 1 in 1,000 to 9,000 people; milder late-onset forms are probably more common than the classic form. It affects males and also female carriers, with variable severity. ## Causes - Variants of the GLA gene on the X chromosome ## Risk factors - Carrier mother (50% risk for each child) - Affected father (all his daughters inherit the variant) ## Pathophysiology Without α-galactosidase A, Gb3 and lyso-Gb3 accumulate in endothelium, vascular smooth muscle, podocytes, cardiomyocytes and [dorsal root ganglia](https://durgical.com/en/anatomy/spinal-ganglion/). Small nerve fibre damage gives neuropathic pain and hypohidrosis; podocyte damage gives proteinuria and kidney failure; myocardial storage gives ventricular hypertrophy, fibrosis and arrhythmias; vascular damage gives early strokes. In women, random X inactivation explains the variability. ## Classification - Classic: males with little or no enzyme activity, onset in childhood - Late-onset: residual activity, mainly cardiac or renal disease in adulthood - Heterozygous women: from no symptoms to a classic picture ## Symptoms and signs - Burning pain in hands and feet (acroparaesthesia), sometimes in crises with fever or exercise - Reduced sweating and heat intolerance - Dark red papules in the swimsuit area (angiokeratomas) - Abdominal pain and diarrhoea - Foamy urine from proteinuria - Palpitations and breathlessness over the years ## Red flags - Stroke in a young adult with no clear cause - Left ventricular hypertrophy without hypertension - Proteinuria or chronic kidney disease in a young person with neuropathic pain ## Diagnosis **Clinical** Childhood acroparaesthesia, angiokeratomas and hypohidrosis; slit-lamp examination shows [cornea](https://durgical.com/en/anatomy/cornea/) verticillata; an X-linked family history. **Tests** In males, low α-galactosidase A activity in plasma, leukocytes or dried blood spots; in females, GLA gene testing; plasma lyso-Gb3; urinalysis and albumin/creatinine ratio; [kidney](https://durgical.com/en/anatomy/kidney/) function; ECG with short PR, hypertrophy or blocks; kidney or heart biopsy in doubtful cases. **Imaging** Echocardiogram with ventricular hypertrophy; cardiac MRI with low native T1 and inferolateral late enhancement; brain MRI with [white matter](https://durgical.com/en/anatomy/white-matter-of-telencephalon/) lesions. ## Treatment **Medical** Intravenous enzyme replacement with recombinant α-galactosidase A. **Medical** An oral chaperone (migalastat) for patients whose variants respond to it. **Medical** ACE inhibitors or angiotensin receptor blockers for proteinuria, and drugs for neuropathic pain. **Procedure** Dialysis or kidney transplant for kidney failure; pacemaker or implantable defibrillator for severe arrhythmias. **Follow-up** Regular kidney, heart and neurological follow-up, and testing of at-risk relatives. ## Complications - End-stage chronic kidney disease - Hypertrophic cardiomyopathy, arrhythmias and heart failure - Early stroke - Hearing loss ## Prognosis Untreated, life expectancy in males with the classic form is shortened by kidney, heart or cerebrovascular failure. Early treatment delays organ damage. ## Test yourself Think of the answer, then tap the question to see it. ## Which enzyme is missing in Fabry disease, and how is it inherited? α-Galactosidase A (GLA gene); X-linked inheritance. ## Why is enzyme measurement not enough to diagnose a woman with Fabry disease? Random X inactivation can leave her activity normal; genetic testing is needed. ## Which early triad suggests Fabry disease in a child? Burning pain in hands and feet, reduced sweating and angiokeratomas. ## Which slit-lamp finding is typical of Fabry disease? Cornea verticillata: whorl-like opacities in the corneal epithelium. [Add to my cards (4)](https://durgical.app/estudiar/?add=/en/conditions/fabry-disease/) ## Related conditions - [Chronic kidney disease](https://durgical.com/en/conditions/chronic-kidney-disease/) - [Ischaemic stroke](https://durgical.com/en/conditions/ischaemic-stroke/) - [Heart failure](https://durgical.com/en/conditions/heart-failure/) Educational information, not medical advice. For any symptom, see a health professional. Sources: [Fabry disease: MedlinePlus Genetics](https://medlineplus.gov/genetics/condition/fabry-disease/) (MedlinePlus, US National Library of Medicine, 2026); [GLA gene: MedlinePlus Genetics](https://medlineplus.gov/genetics/gene/gla/) (MedlinePlus, US National Library of Medicine, 2026); Textbook of Biochemistry for Medical Students, 6th ed. (Jaypee Brothers Medical Publishers (Vasudevan DM, Sreekumari S, Vaidyanathan K), 2011). [← All conditions](https://durgical.com/en/conditions/) ## **Spotted a mistake?** We are always improving for the community. Tell us what is wrong and our team will review it. Report a mistake Representative model, for educational purposes only. --- Source: https://durgical.com/en/conditions/fabry-disease/ License: CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). Cite as: DurgiPedia (durgical.com), https://durgical.com/en/conditions/fabry-disease/