Fabry Disease
- 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?
- Resources
Introduction
What is Fabry disease and what causes it?
What are the symptoms of Fabry disease?
- 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
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?
Resources
Information & Support
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.
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 (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) ( 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.
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)
Patient Education
A Guide for Women Living with Fabry Disease (Genzyme) ( 1.1 MB)
Explains the researched-based signs and symptoms that women with Fabry disease may experience.
Discover Fabry (Genzyme)
Diagnosis, management, resources, and support information for families affected by 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 Inheritance Patterns (Genzyme)
Explains how to create a medical family tree as a way to understand the inheritance pattern and risk of passing on Fabry disease.
Services for Patients & Families in Utah (UT)
Service Categories | # of providers* in: | UT | NW | Other states (5) (show) | | ID | MT | NM | NV | RI |
---|---|---|---|---|---|---|---|---|---|---|
Audiology | 53 | 1 | 26 | 49 | 264 | 8 | 24 | |||
Camps for Children with Special Needs | 47 | 21 | 22 | 37 | 50 | 30 | 34 | |||
Disability Awareness Programs | 104 | 52 | 79 | 57 | 200 | 88 | 56 | |||
General Counseling Services | 440 | 1 | 201 | 146 | 96 | 174 | 33 | |||
Medical Care Expense Assistance | 73 | 38 | 68 | 39 | 272 | 70 | 43 | |||
National Support Services, Disab/Diag | 105 | 105 | 106 | 105 | 106 | 105 | 105 | |||
Pain Management | 2 | 1 | 1 | 1 | 2 | 3 | 1 | |||
Pediatric Cardiology | 6 | 1 | 3 | 17 | 31 | 5 | 17 | |||
Pediatric Dermatology | 2 | 1 | 1 | 5 | 4 | 1 | 3 | |||
Pediatric Gastroenterology | 4 | 1 | 3 | 16 | 8 | 6 | 19 | |||
Pediatric Metabolics | 2 | 1 | 1 | 1 | 2 | |||||
Pediatric Nephrology | 1 | 1 | 2 | 5 | 2 | 9 | ||||
Pediatric Neurology | 6 | 1 | 16 | 31 | 6 | 15 | ||||
Physician Referral Services | 5 | 1 | 12 | 1 | 31 | 4 | 1 |
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.
Studies
Clinical Trials in Fabry (clinicaltrials.gov)
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.
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
Page Bibliography
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.
PubMed abstract