Fabry disease

Información en español Title

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:

Blood Diseases; Congenital and Genetic Diseases; Eye diseases; Blood Diseases; Congenital and Genetic Diseases; Eye diseases; Heart Diseases; Kidney and Urinary Diseases; Metabolic disorders; Nervous System Diseases; RDCRN; Skin Diseases See More

Summary Summary

Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3.^[1] Fabry disease affects many parts of the body. Signs and symptoms may 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 of the front part of the eye (corneal opacity); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner.^[2] Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.^[3]

Last updated: 10/4/2017

Symptoms Symptoms

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		0001903
Angiokeratoma		0001014
Arthralgia	Joint pain	0002829
Arthritis	Joint inflammation	0001369
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Conjunctival telangiectasia		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	0001482
Telangiectasia of the skin		0100585
Transient ischemic attack	Mini stroke	0002326
30%-79% of people have these symptoms
Abnormal aortic valve morphology		0001646
Abnormality of the renal tubule		0000091
Anorexia		0002039
Atrioventricular block		0001678
Bundle branch block		0011710
Cataract	Cloudy lens	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		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 obstructive pulmonary disease		0006510
Depressivity	Depression	0000716
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Diabetes insipidus		0000873
Dyspnea		0002094
Fever		0001945
Glomerulopathy		0100820
Hypertension		0000822
Hypertrophic cardiomyopathy		0001639
Left ventricular hypertrophy		0001712
Lymphedema		0001004
Reduced bone mineral density		0004349
Respiratory insufficiency	Respiratory impairment	0002093
Seizures	Seizure	0001250
Sensorineural hearing impairment		0000407
Vertigo	Dizzy spell	0002321
Percent of people who have these symptoms is not available through HPO
Abnormality of the hand	Abnormal hands Hand anomalies Hand deformities [ more ]	0001155
Diarrhea	Watery stool	0002014
Dysautonomia		0002459
Fasciculations	Muscle twitch	0002380
Juvenile onset		0003621
Left ventricular septal hypertrophy		0005144
Muscle cramps		0003394
Myocardial infarction	Heart attack	0001658
Nausea		0002018
Obstructive lung disease		0006536
Paresthesia	Pins and needles feeling Tingling [ more ]	0003401
Tenesmus		0012702
Vomiting	Throwing up	0002013
X-linked recessive inheritance		0001419

Showing of 74 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 4/1/2018

Inheritance Inheritance

Fabry disease is inherited in an X-linked pattern, which means that the gene that causes the condition is located on the X chromosome.^[2]^[3] In males (who have only one X chromosome), one changed copy of the gene is enough to cause symptoms of the disease. Because females have two copies of the X chromosome, one changed copy of the gene in each cell usually leads to less severe symptoms than seen in males, or may cause no symptoms at all.^[2]

Last updated: 10/4/2017

Treatment Treatment

Management for Fabry disease may include treatment of specific signs and symptoms as well as prevention of secondary complications.

Treatment for episodes of severe burning pain in the hands and feet (acroparesthesias) may include phenytoin and/or carbamazepine to reduce the frequency and severity of pain crises; or gabapentin, which has also been shown to improve pain.^[3]

Decreased kidney function (renal insufficiency) may be treated with ACE inhibitors. Experts recommend ACE inhibitors for all individuals with evidence of kidney involvement, especially to reduce protein in the urine (proteinuria). Chronic hemodialysis and/or renal transplantation have become lifesaving procedures for people with Fabry disease and kidney involvement. The transplanted kidney remains free of the harmful fatty substance (glycosphingolipid) deposition. Therefore, after a successful kidney transplantation, kidney function will be normal. Transplantation of kidneys from carriers for Fabry disease should be avoided because these kidneys may already be affected. All potential donors that are relatives of the a person with known Fabry disease should have their genetic status checked to make sure they are not an undiagnosed male with Fabry disease or a carrier female.^[3]

Enzyme replacement therapy (ERT) using human α-Gal A enzyme is generally used to improve some of the the signs and symptoms associated with Fabry disease and to stabilize organ function. Many experts have recommended that ERT be started as early as possible in all males with Fabry disease (including children and those with end stage renal disease (ESRD) undergoing dialysis and renal transplantation) and in female carriers that are significantly affected. All of these individuals are at high risk for heart (cardiac), cerebrovascular (blood vessels of the brain), and neurologic complications, such as transient ischemic attacks and strokes. The role of ERT in the long-term prevention of kidney, heart, and central nervous system (CNS) complications is unproven; however, because ERT can stabilize organ function in people with more advanced disease, some experts have suggested starting ERT in early disease stages before complications occur. This might include starting ERT when aperson with Fabry disease who does not have any symptoms yet. ERT should be discontinued if there is no improvement.^[3]

Prevention of complications such as renovascular disease (conditions affecting the blood vessels of the kidneys), ischemic heart disease, and cerebrovascular disease (conditions affecting the blood vessels of the brain) in people with Fabry disease is generally the same as for the general population. Measures taken may include ACE inhibitors and/or ARB drugs for proteinuria or albuminemia (high levels of albumin in the blood); blood pressure control; and cholesterol control. Aspirin and other medications may be recommended for the prevention of stroke.^[3]

Surveillance may include yearly or more frequent kidney function studies, yearly heart checkup, and yearly hearing evaluation, as well as brain image studies every two years.^[3]

Last updated: 10/4/2017

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.

Ceramide trihexosidase/alpha-galactosidase A (Brand name: Fabrazyme®) - Manufactured by Genzyme Corporation
FDA-approved indication: 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

Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
You can search here for a Fabry disease physician or staff member on the National Fabry Disease Foundation Web site. Click on the link to go to the search page.

Research Research

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 has been established in order to better understand the natural history of Fabry disease, including disease variations within and between affected families; provide a basis for developing guidelines for disease management; evaluate how treatment affects the course of disease; and provide high-quality data and analysis that will help to continuously develop better treatments.
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.

Organizations Organizations

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

Fabry Support & Information Group
108 NE 2nd Street, Ste. C
P.O. Box 510
Concordia, MO 64020-0510
Telephone: 660-463-1355
Fax: 660-463-1356
E-mail: info@fabry.org
Website: http://www.fabry.org
National Fabry Disease Foundation
4301 Connecticut Ave. N.W. Suite 404
Washington, DC 20008-2369
Toll-free: 800-651-9131
Fax: 800-651-9135
E-mail: info@fabrydisease.org
Website: http://www.fabrydisease.org/
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Toll-free: 800-622-9010
Telephone: 212-889-2210
Fax: 212-689-9261
E-mail: info@kidney.org
Website: http://www.kidney.org
National Tay-Sachs and Allied Diseases Association
2001 Beacon Street
Suite 204
Brighton, MA 02135
Toll-free: 800-90-NTSAD (906-8723)
Telephone: 617-277-4463
Fax: 617-277-0134
E-mail: info@ntsad.org
Website: http://www.ntsad.org

Do you know of an organization? We want to hear from you.

Learn More Learn More

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

The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
Genetics Home Reference (GHR) contains information on Fabry disease. This website is maintained by the National Library of Medicine.
The National Fabry Disease Foundation offers information and support for Fabry disease. Click on the link to learn more.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Kidney Foundation, Inc. offers an information page on Fabry disease.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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

Ries, et al. Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 2006;118:924-932.
Ries, et al. Pediatric Fabry Disease. Pediatrics 2005;115:e344-e355.

News & Events News & Events

News

National DNA Day Reddit "Ask Me Anything" (AMA) Series
April 11, 2018

NCATS Co-Sponsored Conferences

Gordon Research Conference and Gordon Research Seminar on Lysosomes and Endocytosis Sunday, June 15, 2014 - Friday, June 20, 2014
Location: Proctor Academy, Andover, NH
Description: The main goal of the Lysosomes and Endocytosis GRC is to foster the dissemination of current research results and the establishment of new research areas and new collaborations in the area of the cell biology of endocytosis, lysosomes, endosomes and related organelles. We hope that many of these new directions and collaborations will be directed toward the etiology, diagnosis and treatment of rare genetic diseases such as lysosomal storage disorders, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Niemann Pick disease and tuberous sclerosis, among others.

Contact: Alexandra Ainsztein, Ph.D.(301) 594-0828, Alexandra.Ainsztein@nih.gov

Co-funding Institute(s): National Institute of General Medical Sciences, Office of Rare Diseases Research

Related Diseases Related Diseases

The following diseases are related to Fabry disease. If you have a question about any of these diseases, you can contact GARD.

Sphingolipidosis

GARD Answers GARD Answers

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
Can women get Fabry disease? See answer

Have a question? Contact a GARD Information Specialist.