Advertisement

What is Fabry disease?

Fabry disease is a progressive condition caused when the body is unable to break down a fatty substance known as glycolipid.  In affected men and women symptoms worsen over time.  Children with the disorder typically suffer from arm and leg pain, digestive issues, decreased sweating, overheating, and rashes. Without treatment, symptoms in adolescence and adulthood become worse and lead to strokes, heart disease, and kidney failure.  Early treatment with enzyme replacement therapy can help stop disease progression.

Continue Learning about Genetic Disorders

How Stress Affects Hereditary Angioedema
How Stress Affects Hereditary Angioedema
Also called HAE, hereditary angioedema is a genetic disorder that causes episodes of severe swelling. These episodes—also called HAE attacks or acute ...
Read More
How to Treat an Hereditary Angioedema Attack and Get Relief Fast
How to Treat an Hereditary Angioedema Attack and Get Relief Fast
Hereditary angioedema (HAE) is a genetic condition that causes swelling, typically of the face, hands, feet, digestive tract or throat. About 1 of eve...
Read More
What is osteochondrodysplasias?
Honor Society of Nursing (STTI)Honor Society of Nursing (STTI)
Osteochondrodysplasias is a connective tissue disorder. Osteochondrodysplasias prevents bone growth ...
More Answers
Can a child inherit HHT from a parent with the disease?
Dr. John C. Lipman, MDDr. John C. Lipman, MD
Yes. HHT (Hereditary Hemorrhagic Telangiectasia) is an autosomal dominant genetic disorder. There is...
More Answers

Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.