Fabry Disease

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Introduction
What is Fabry disease and what causes it?
What are the symptoms of Fabry disease?
How is it diagnosed?
What is the prognosis?
What is the risk to other family members and future babies?
What treatments/therapies/medications are recommended or available?
How will my child and our family be impacted?
We have insurance, but still can't afford the copayment. What can we do?
I have heard that the kidneys are the major organ affected in Fabry. Is that the only system I should be monitoring?
I know that Fabry disease is an X-linked disorder. Doesn’t that mean that females are not affected and are only carriers?

Introduction

Here you’ll find answers to some of the questions that parents often have about this condition. Additional resources are listed at the bottom of the page. Diagnosis and management information can be found in the Fabry Disease module, which is written for primary care clinicians but also may be of help to parents and family members.

What is Fabry disease and what causes it?

Fabry disease is a condition that runs in families and is caused by a missing enzyme called α-galactosidase A. This enzyme normally breaks down a particular fatty substance, globotriaosylceramide or GL-3, in the cells of the body. Without a sufficient amount of GL-3 enzyme, GL-3 progressively accumulates in cells throughout the body, especially in the lining of blood vessels, and in the heart, nervous system, and kidneys.

Fabry disease is caused by a mutation in the GLA gene that is located on the X chromosome. The GLA gene contains the instructions needed to make the α-galactosidase A enzyme. 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 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.

What are the symptoms of Fabry disease?

Fabry disease affects many different parts of the body and causes a variety of signs and symptoms. 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 including 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 pattern in the cornea of the eye found during an eye exam that does not affect vision
Ringing in the ears (tinnitus) and/or hearing loss
Fatigue

As the disease progresses, it can lead to life-threatening complications including kidney damage, heart attack, and stroke.

How is it 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 levels of the enzyme 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 prognosis?

Renal, cardiovascular, or cerebrovascular complications can limit the lifespan of those with Fabry. [Germain: 2010] 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. [Martins: 2009]

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

Fabry disease follows an X-linked inheritance pattern. In this type of inheritance pattern, 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, it is important for other family members to understand the risks. It is possible for parents, siblings, cousins, aunts, and uncles in your immediate and extended family to also be affected by Fabry. Consultation with a genetic counselor is recommended to help build a genetic family tree and to determine individual risks.

What treatments/therapies/medications are recommended or available?

There is currently no cure for Fabry disease. Treatment is focused on halting or slowing progression of the disease and managing symptoms. The only treatment approved specifically for Fabry disease in the United States is agalsidase-beta (Fabrazyme). This medication is an enzyme replacement therapy (ERT) and is a manufactured version of the enzyme that is lacking in Fabry disease. Fabrazyme is given by infusion through an IV every 2 weeks.

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, others may have severe presentations that significantly affect the life of the family. Support groups can be a great source of information and assistance in navigating the challenges associated with 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 the treatment their child needs.

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

There are many organs affected in Fabry including the heart. In fact, more individuals with Fabry 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 are only carriers?

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

Resources

Information & Support

Where can I go for further information?

For Parents and Patients

Support

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

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

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

Focus on Fabry
Resource for patients, families, and healthcare professionals with an interest in Fabry disease - includes personal stories.

General

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

GLA Gene (Genetics Home Reference)
Information about the galactosidase, alpha (GLA) gene; sponsored by the National Institutes of Health.

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 that includes 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 that includes how it is passed on, a family tree, how to talk to other family members, family stories, and resources.

Understanding Fabry Disease (Genzyme)
Page with booklet (20 pages) that focuses on living with Fabry disease.

Fabry Support & Information Group (Facebook)

Fabry Support & Information Group (Twitter)

National Fabry Disease Foundation (Twitter)

National Fabry Disease Foundation (Facebook)

National Fabry Disease Foundation (YouTube)

Fabry Disease Info and Support (Facebook)

Fabry Disease Support (Facebook)

Patient Education

A Guide for Women Living with Fabry Disease (Genzyme)
Page with a document with information for women who have Fabry disease.

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

Fabry Information for Patients and Families (Genzyme)
Information about Fabry that includes how it is passed on and a family tree.

Understanding Fabry Disease (Genzyme, Spanish)
Page with pamphlet with information about Fabry in Spanish.

Services in New Mexico

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National Support Services, Disab/Diag

We currently have no National Support Services, Disab/Diag service providers listed; search our Services database for related services.

Pain Management

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Pediatric Cardiology

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Pediatric Dermatology

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Pediatric Gastroenterology

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Pediatric Metabolic Genetics

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Pediatric Nephrology

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Pediatric Neurology

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Physician Referral Services

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Psychologist, Child-18 (PhD, PsyD)

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For other services related to this condition, browse our Services categories or search our database.

Studies

Clinical Trials in Fabry (clinicaltrials.gov)
List of current clinical trials in Fabry disease; a service of the U.S. National Institutes of Health.

Fabry Registry (Genzyme)
Any person with a confirmed diagnosis of Fabry disease is eligible to participate regardless of disease type, treatment status, or treatment choice.

Helpful Articles

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

Authors & Reviewers

Last update/revision: November 2015; initial publication: April 2015

Current Authors and Reviewers:

Author:	Susan Jensen, DNP
Reviewer:	Nicola Longo, MD, Ph.D.

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