National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Fabry disease

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Other Names:
Angiokeratoma, diffuse; Anderson-Fabry disease; Hereditary dystopic lipidosis; Angiokeratoma, diffuse; Anderson-Fabry disease; Hereditary dystopic lipidosis; Alpha-galactosidase A deficiency; GLA deficiency; Angiokeratoma corporis diffusum; Ceramide trihexosidase deficiency See More
Categories:
This disease is grouped under:
Fabry disease is a type of lysosomal storage disease. Lysosomes are round structures found in the cells of the body that are full of special proteins called enzymes. Lysosomal enzymes help breakdown other proteins, carbohydrates, fats, and other substances. In Fabry disease, there is not enough of the enzyme alpha-galactosidase (alpha-GAL). Alpha-GAL helps breakdown a fatty acid called "globotriaosylceramide" or GL3 ". Without enough alpha-GAL, the lysosomes become filled with GL-3 and can not work well. [1] Symptoms of Fabry disease may include episodes of pain, especially in the hands and feet, clusters of small, dark red spots on the skin called angiokeratomas, a decreased ability to sweat (hypohidrosis), cloudiness of the front part of the eye (corneal opacity), and hearing loss. Internal organs, such as the kidney, heart or brain, may also be affected, leading to progressive kidney damage, heart attacks, and strokes. Milder forms of Fabry disease may appear later in life and affect only the heart or kidneys. [1][2]

Fabry disease is caused by certain changes (pathogenic variants, also called mutations) in the GLA gene. Since the GLA gene is located on the X chromosome, Fabry disease is inherited in an X-linked manner.[1]

Although an enzyme assay test measuring the activity of alpha-GAL can diagnose Fabry disease in males, diagnosis is usually made by genetic testing in both males and females. Treatment may include enzyme replacement therapy (ERT), pain medications, and ACE inhibitors. End stage kidney disease may be treated by dialysis or kidney transplantation.[2] Migalastat (brand name Galafold) received FDA approval in 2018 to treat some adults who have specific pathogenic variants (mutations) causing Fabry disease. [3]
Last updated: 9/5/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ] 		0002027
Anemia
Low number of red blood cells or hemoglobin
0001903
Angiokeratoma 0001014
Arthralgia
Joint pain
0002829
Arthritis
Joint inflammation
0001369
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Conjunctival telangiectasia
Small dilated blood vessels near membrane covering front of eye and eyelids
0000524
Corneal dystrophy 0001131
Corneal opacity 0007957
Fatigue
Tired
Tiredness
[ more ] 		0012378
Hematuria
Blood in urine
0000790
Hyperkeratosis 0000962
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] 		0000966
Malabsorption
Intestinal malabsorption
0002024
Myalgia
Muscle ache
Muscle pain
[ more ] 		0003326
Nephrotic syndrome 0000100
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] 		0001482
Telangiectasia of the skin 0100585
Transient ischemic attack
Mini stroke
0002326
30%-79% of people have these symptoms
Abnormal aortic valve morphology 0001646
Abnormal renal tubule morphology 0000091
Anorexia 0002039
Atrioventricular block
Interruption of electrical communication between upper and lower chambers of heart
0001678
Bundle branch block 0011710
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Coarse facial features
Coarse facial appearance
0000280
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Emphysema 0002097
Hyperlipidemia
Elevated lipids in blood
0003077
Mitral regurgitation 0001653
Nausea and vomiting 0002017
Nephropathy 0000112
Optic atrophy 0000648
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] 		0000179
5%-29% of people have these symptoms
Abnormal endocardium morphology 0004306
Abnormality of femur morphology
Abnormality of the thighbone
0002823
Achalasia 0002571
Angina pectoris 0001681
Anxiety
Excessive, persistent worry and fear
0000739
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] 		0011675
Chronic pulmonary obstruction 0006510
Depressivity
Depression
0000716
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ] 		0002376
Diabetes insipidus 0000873
Dyspnea
Trouble breathing
0002094
Fever 0001945
Glomerulopathy 0100820
Hypertension 0000822
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Left ventricular hypertrophy 0001712
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Reduced bone mineral density
Low solidness and mass of the bones
0004349
Respiratory insufficiency
Respiratory impairment
0002093
Seizure 0001250
Sensorineural hearing impairment 0000407
Vertigo
Dizzy spell
0002321
Percent of people who have these symptoms is not available through HPO
Abnormal autonomic nervous system physiology 0012332
Abnormality of the hand
Abnormal hands
Hand anomalies
Hand deformities
[ more ] 		0001155
Diarrhea
Watery stool
0002014
Fasciculations
Muscle twitch
0002380
Juvenile onset
Signs and symptoms begin before 15 years of age
0003621
Lipiduria 0032567
Muscle spasm 0003394
Myocardial infarction
Heart attack
0001658
Nausea 0002018
Paresthesia
Pins and needles feeling
Tingling
[ more ] 		0003401
Pulmonary obstruction
Obstructive lung disease
0006536
Tenesmus 0012702
Urinary mulberry cells 0032568
Ventricular septal hypertrophy 0005144
Vomiting
Throwing up
0002013
X-linked recessive inheritance 0001419
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Last updated: 7/1/2020
Fabry disease is inherited in an X-linked pattern, which means the genetic changes (pathogenic variants, also called mutations) that cause the disease occur in a gene (the GLA gene) on the X chromosome. Females have two X chromosomes and therefore have two copies of the GLA gene. Males have one X chromosome and one Y chromosome, and therefore have only one copy of the GLA gene.[1][2]

In males, a pathogenic variant in the GLA gene is enough to cause symptoms of Fabry disease, because there is not another working copy of the gene. Females with a pathogenic variant in one copy of the gene can be seemingly asymptomatic, can have severe symptoms, or anything in between. A high percentage of females who have a pathogenic variant experience significant symptoms.[4]

When a female with a GLA pathogenic variant (with or without symptoms) has children, each child (male or female) has a 50% chance to inherit the GLA pathogenic variant because each child will inherit one of her X chromosomes at random.[4]

When a male with a GLA pathogenic variant has children, the pathogenic variant will be passed on to all of his daughters, and to none of his sons. Therefore, a male cannot inherit the disease from his father.[4]
Last updated: 6/24/2019

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Newborn Screening

  • An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
  • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
Management of Fabry disease may include treatment of specific symptoms, as well as medications to prevent or slow the development of secondary complications.[2][3][5][6]
  • ACE inhibitors may be used to treat decreased kidney function (renal insufficiency). ACE inhibitors can reduce the loss of protein in the urine (proteinuria). If kidney function continues to decrease dialysis and/or kidney transplantation may be necessary. A kidney transplanted successfully into a person with Fabry disease will remain free of the harmful build up of the fatty acid GL3 and therefore will restore normal kidney function. However it will not stop the buildup of GL3 in other organs or systems of the body. In addition, all potential donors that are relatives of the a person with known Fabry disease should have their genetic status checked to make sure they do not have a pathogenic variant (mutation) in the GLA gene (even if they do not have symptoms).
  • Enzyme replacement therapy (ERT), human α-Gal A enzyme, may be used to improve symptoms associated with Fabry disease and to stabilize organ function. Studies however suggest ERT may only slightly improve long term outcomes.
  • Migalastat (Galafold) may also be used to treat certain people with Fabry disease. It works by increasing the activity of the enzyme alpha-GAL, so is different than enzyme replacement therapy (ERT). Migalastat is approved by the United States Food and Drug Administration (FDA) for adults and adolescents 16 years of age and older, with a confirmed diagnosis of Fabry disease and a pathogenic variant (mutation) in the GLA gene that produces an alpha-GAL enzyme that responds to the treatment. About 35 and 50% of the people diagnosed with Fabry may be helped by migalastat. Migalastat has been approved by similar agencies in Europe, Israel, Australia, and Canada, and is registered for approval in other countries.
  • Medications may be given to control blood pressure and to lower cholesterol levels. Aspirin and similar medications may be recommended to prevent a heart attack.
People with Fabry disease should be seen annually, or more frequently, by a doctor familiar with managing Fabry disease to check the function of their kidneys and heart. Hearing should also be checked annually. Brain imaging is recommended every 2 years. A person with Fabry disease may need a team of specialists in addition to their primary care doctor or pediatrician and genetic specialist, including, depending on symptoms, neurologists, cardiologists (heart doctor), nephrologists (kidney doctor), ophthalmologists (eye doctor), otorhinolaryngologists (ear, nose, and throat doctor), and others.[2][5]
To prevent other complications, medications can be given to control blood pressure and medications to lower cholesterol, and the use of aspirin and similar medications is recommended to prevent heart attack.
To prevent other complications, medications can be given to control blood pressure and medications to lower cholesterol, and the use of aspirin and similar medications is recommended to prevent heart attack.
To prevent other complications, medications can be given to control blood pressure and medications to lower cholesterol, and the use of aspirin and similar medications is recommended to prevent heart attack.
Last updated: 9/5/2018

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

  • Agalsidase alfa (Brand name: Fabrazyme) - Manufactured by Sanofi Genzyme
    FDA-approved indication: April 2003, agalsidase alfa (Fabrazyme) was approved for use in patients with Fabry disease to reduce globotriaosylceramide (GL-3) deposition in capillary endothelium of the kidney and certain other cell types.
    National Library of Medicine Drug Information Portal
  • Migalastat hydrochloride (Brand name: Galafold) - Manufactured by Amicus Therapeutics, Inc.
    FDA-approved indication: August 2018, migalastat (Galafold) was approved for the treatment of adults with a confirmed diagnosis of Fabry disease and an amenable galactosidase alpha gene (GLA) variant based on in vitro assay data.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
In childhood, other possible causes of pain such as rheumatoid arthritis and "growing pains" must be ruled out. In adulthood, multiple sclerosis is sometimes considered.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Fabry disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

  • The Fabry Registry supports research for Fabry disease by collecting information about patients with this diagnosis. You can join the registry to share your information with researchers and receive updates about participating in new research studies. Learn more about registries.
  • The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Fabry disease. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Are there any lifestyle or dietary changes that can have a beneficial effect on the life of Fabry sufferers? See answer

  • Will Fabry disease affect a transplanted kidney? Previous to the transplant the disease was being managed with an enzyme supplement. Will the enzyme supplement need to be continued? What are, if any, cautions or additional treatments required to manage the disease with a transplanted kidney? See answer


  1. Fabry disease. Genetics Home Reference. February 2012; http://ghr.nlm.nih.gov/condition/fabry-disease.
  2. MehtaA & Hughes DA. Fabry Disease. GeneReviews. 2017; http://www.ncbi.nlm.nih.gov/books/NBK1292/.
  3. FDA approves new treatment for a rare genetic disorder, Fabry disease. FDA U.S. Food and Drug Administration. August 10, 2018; https://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm616598.htm.
  4. How Is Fabry Disease Inherited?. National Fabry Disease Foundation (NFDF). https://www.fabrydisease.org/index.php/about-fabry-disease/fabry-disease-inheritance. Accessed 6/24/2019.
  5. Desnick R. Genetics of Fabry Disease. MedScape Reference. August 23, 2018; https://emedicine.medscape.com/article/951451-overview.
  6. Benjamin ER, Della Valle MC, Wu X, et al. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. Genetics in Medicine. 2017; 19(4):430-438. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392595/.