Fabry Disease (FAQ)

Answers to questions families often have about caring for their child with Fabry disease

What is Fabry disease and what causes it?

Fabry disease is an inherited condition that runs in families. It is caused by a mutation in the GLA gene located on the X chromosome. The GLA gene contains the instructions needed to make the α-galactosidase A enzyme. This enzyme normally breaks down a particular fatty substance, globotriaosylceramide or GL-3, in the body's cells. Without a sufficient amount of GL-3 enzyme, GL-3 progressively accumulates in cells throughout the body, especially in the lining of blood vessels, the heart, nervous system, and kidneys causing damage.
Some people with Fabry disease have a mutation in the GLA gene that results in the absence of the enzyme, and they may have a more severe or “classic” form of the disease. Others with Fabry disease may have a mutation that results in a decreased amount of the enzyme or a form of the enzyme that does not work as well. This may cause a milder form of the disease.
Other names for Fabry disease are Alpha-Galactosidase A Deficiency and Anderson-Fabry Disease.

What are the symptoms of Fabry disease?

Fabry disease affects many different parts of the body. Symptoms often begin in childhood and may include:
  • Frequent burning or tingling pain in the hands and feet
  • Episodes of severe pain that usually begin in the hands and feet and spread to other parts of the body, often when a child has a fever or is overheated (Fabry “crisis”)
  • Little or no sweating (hypohydrosis/anhydrosis)
  • Gastrointestinal problems include abdominal pain, diarrhea/constipation, nausea, vomiting, and bloating
  • A non-itchy rash consisting of groups of small, dark red spots on the skin (angiokeratomas)
  • A whorling (spiral) pattern in the cornea of the eye found during an eye exam that does not affect vision (cornea verticillata)
  • Ringing in the ears (tinnitus) and/or hearing loss
  • Fatigue (tiredness)
As the disease progresses, it can lead to life-threatening complications, including kidney damage, heart attack, and stroke.

How is Fabry disease diagnosed?

For males, a diagnosis of Fabry disease can usually be made based on the results of tests that measure the amount of α-galactosidase A enzyme in the blood. Females with Fabry may have normal or near-normal enzyme levels in the blood and still have Fabry disease. Females usually need to have the diagnosis confirmed by looking at the GLA gene on the X chromosome. This can be done with blood or saliva.

What is the life-expectancy? Prognosis?

Renal, cardiovascular, or cerebrovascular complications can limit the lifespan of those with Fabry disease. If untreated, males have a life expectancy of approximately 50 years; females have a life expectancy of 70 years. This represents a reduction of at least 20 and 10 years, respectively. A child’s quality of life and participation in home and school activities may be impacted by symptoms such as pain and gastrointestinal disturbances.

What is the risk to other family members and future babies?

Fabry disease follows an X-linked inheritance pattern. So, if a man has Fabry disease, he will pass the disease on to all of his daughters and none of his sons. If a woman has Fabry disease, each child born to her has a 50% chance of having the disease.
Since Fabry disease runs in families, other family members need to understand the risks. This includes parents, siblings, cousins, aunts, and uncles in your immediate and extended family. Consultation with a genetic counselor is recommended to help build a genetic family tree and determine each individual’s risks.

What is the treatment for Fabry disease?

There is currently no cure for Fabry disease. Treatment is focused on halting or slowing the progression of the disease and managing symptoms. The only medication approved specifically for Fabry disease in the United States is agalsidase-beta (Fabrazyme). This medication is an enzyme replacement therapy (ERT) and a manufactured version of the enzyme lacking in Fabry disease. Fabrazyme is given by infusion through an IV every 2 weeks.
Other medications may be used to help control pain, including carbamazepine, gabapentin, phenytoin, and analgesics. H2 blockers and metoclopramide have been used to help with GI problems. Many other medications and therapies may be prescribed to help with renal or cardiac issues.

How will my child and our family be impacted?

Fabry symptoms vary greatly; some children may have few symptoms, while others may have severe presentations that significantly affect the family. Support groups can be a great source of information and assist in navigating the challenges of this disease.

We have insurance but still can't afford the copayment. What can we do?

Some organizations (listed in Resources below) can help families finance their child's treatment.

I have heard that the kidneys are the major organ affected in Fabry. Is that the major system I should be monitoring?

There are many organs affected by Fabry disease, including the heart. More individuals with Fabry disease die from heart-related complications than from kidney damage. Both the heart and the kidneys should be closely monitored.

I know that Fabry disease is an X-linked disorder. Doesn’t that mean that females are not affected and only carriers?

No, because of X-inactivation, females can have a large range of symptoms. Some females may be as affected as males, while some may not have symptoms. Females with Fabry disease need to be monitored and treated appropriately.


Information & Support

Related Portal Content
Fabry Disease
Diagnosis and management information for the primary care clinician caring for the child with Fabry disease.

Care Notebook
Medical information in one place with fillable templates to help both families and providers. Choose only the pages needed to keep track of the current health care summary, care team, care plan, health coverage, expenses, scheduling, and legal documents. Available in English and Spanish.

For Parents and Patients


Fabry Support & Information Group (FSIG)
Access to support groups, discussion forums, resources, and research related to Fabry disease.

Fabry Community (Genzyme)
Information, patient education, the Fabry Registry, and other resources; Genzyme is a biotechnology company.

Fabry Support & Information Group (Facebook)
Founded in 1996, this group was created by Fabry patients to share information with others suffering from the disease and their families as well as educate about treatment options.


National Fabry Disease Foundation
Information about Fabry disease, counseling, finding a physician, and the Charles Kleinschmidt Fabry Family Weekend Camp.

Fabry Disease (NINDS)
Information about Fabry disease, treatment, prognosis, research, and links to other organizations; National Institute of Neurological Disorders and Stroke.

GLA Gene (MedlinePlus)
Information for families that includes description, frequency, causes, inheritance, other names, and additional resources; from the National Library of Medicine.

How Do I Talk To My Family About Fabry? (Genetic Alliance and Genzyme) (PDF Document 5.2 MB)
Thirty-four pages of information about Fabry disease include how it is passed on, a family tree, how to talk to other family members, family stories, and resources.

How Do I Talk To My Family About Fabry? (Genetic Alliance and Genzyme, Spanish) (PDF Document 6.3 MB)
Thirty-four pages of information about Fabry disease in Spanish include how it is passed on, a family tree, talking to other family members, family stories, and resources.

A Guide for Women Living with Fabry Disease (Genzyme) (PDF Document 2.5 MB)
Booklet (12 pages) that describes and explains living with Fabry disease.

Patient Education

Fabry Disease: Guide for the Newly Diagnosed (Emory University) (PDF Document 141 KB)
Factsheet with information about the Fabry symptoms, treatment, tests, and resources.

Discover Fabry (Genzyme)
Diagnosis, management, resources, and support information for families affected by Fabry disease.

A Guide for Women Living with Fabry Disease (Genzyme) (PDF Document 2.5 MB)
Booklet (12 pages) that describes and explains living with Fabry disease.

Fabry Inheritance Patterns (Genzyme)
Explains how to create a medical family tree to understand the inheritance pattern and risk of passing on Fabry disease.


Clinical Trials in Fabry (clinicaltrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.

Helpful Articles

Germain DP.
Fabry disease.
Orphanet J Rare Dis. 2010;5:30. PubMed abstract / Full Text

Martins AM, D'Almeida V, Kyosen SO, Takata ET, Delgado AG, Gonçalves AM, Benetti Filho CC, Martini Filho D, Biagini G, Pimentel H, Abensur H, Guimarães HC, Gomes JG, Sobral Neto J, D'Almeida LO, Carvalho LR, Harouche MB, Maldonado MC, Nascimento OJ, Montoril PS, Bastos RV.
Guidelines to diagnosis and monitoring of Fabry disease and review of treatment experiences.
J Pediatr. 2009;155(4 Suppl):S19-31. / Full Text

Authors & Reviewers

Initial publication: April 2015; last update/revision: September 2022
Current Authors and Reviewers:
Author: Hannah Holik
Senior Author: Kimberly Stowers, MD
Authoring history
2015: update: Susan Jensen, DNPA
2015: first version: Nicola Longo, MD, Ph.D.R
AAuthor; CAContributing Author; SASenior Author; RReviewer