Get Mcl - Hereditary Hemorrhagic Telangiectasia (hht) Gene Testing Patient Information - Mc1235-155

HHT can be diagnosed by performing genetic testing. Genetic testing can detect a gene mutation in about ¾ of families with signs of HHT, which if found can establish the diagnosis of HHT in individuals and families who are unsure about whether they have HHT.

Hereditary hemorrhagic telangiectasia (tuh-lan-jee-uk-TAY-zhuh) is an inherited disorder that causes abnormal connections, called arteriovenous malformations (AVMs), to develop between arteries and veins. The most common locations affected are the nose, lungs, brain and liver.

To help prevent HHT nosebleeds, you may want to: Avoid certain medications. Your risk of bleeding can be increased by over-the-counter drugs and supplements such as aspirin, ibuprofen (Advil, Motrin IB, others), fish oil supplements, ginkgo and St. John's wort.

There are three main types of HHT: Type 1 is caused by mutations in the endoglin gene. Type 2 is caused by mutations in the ACVRL1 (ALK1) gene. HHT-juvenile polyposis syndrome is caused by mutations in the SMAD4 gene.

HHT is a genetic disorder you inherit from your parents. It is an autosomal dominant disorder, which means that if one of your parents has HHT , you have a 50 percent chance of inheriting it. If you have HHT , each of your children has a 50 percent chance of inheriting it from you.

Mutations in several genes, including the ACVRL1, ENG, and SMAD4 genes, cause hereditary hemorrhagic telangiectasia. Hereditary hemorrhagic telangiectasia type 1 is caused by mutations in the ENG gene. Type 2 is caused by mutations in the ACVRL1 gene.