- 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?
- 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
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?
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, physician locator, and links to stories, videos, the Charles Kleinschmidt Fabry Family Weekend Camp, and books for children (Joe Learns about Fabry Disease, Dani Goes to Fabry Family Camp, The Long Road to Fabry, Faber the Dragon, and Transitions: Managing Your Own Healthcare: What Every Teen with an LSD Needs to Know).
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.
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) ( 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) ( 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.
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) ( 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.
Symptom Checklist - Fabry Disease ( 136 KB)
Two-page checklist for Fabry disease, from Genzyme.
See all Audiology services providers (69) in our database.
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See all National Support Groups, Disab/Diag services providers (48) in our database.
See all Pain Clinics services providers (3) in our database.
See all Pediatric Cardiology services providers (3) in our database.
See all Pediatric Dermatology services providers (1) in our database.
See all Pediatric Gastroenterology services providers (3) in our database.
See all Pediatric Metabolic Genetics services providers (2) in our database.
See all Pediatric Nephrology services providers (1) in our database.
See all Pediatric Neurology services providers (10) in our database.
See all Physician Referral Services services providers (13) in our database.
See all Psychologist, Child-18 services providers (151) in our database.
For other services related to this condition, browse our Services categories or search our database.
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.
|Author:||Susan Jensen, DNP - 7/2015|
|Reviewing Author:||Nicola Longo, MD, PhD - 4/2015|
|Content Last Updated:||11/2015|
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. PubMed abstract