HHT
HHT is a genetic disorder that causes abnormalities of blood vessels. Most blood vessels in the body of someone with HHT are normal. However, a small percentage of the blood vessels in a person with HHT have a specific type of abnormality. A person with HHT has a tendency to form blood vessels that lack the capillaries between an artery and vein. This means that arterial blood under high pressure flows directly into a vein without first having to squeeze through the very small capillaries.
This place where an artery is connected directly to a vein tends to be a fragile site that can rupture and result in bleeding. We usually call a blood vessel that is abnormal in this way a telangiectasia (tel-AN-jee-eck-TAZE-ee-ya), if it involves small blood vessels. We tend to call it an arteriovenous malformation (AVM) if involves larger blood vessels. So, an AVM might be thought of as a big telangiectasia. The basic abnormality in the blood vessel is the same. These malformations can occur in the nose, lungs, GI tract, brain and spine. Though this condition is not considered rare, it is often misdiagnosed. It is an autosomal dominant condition meaning that it does not skip generations and if an affected individual has children, each of their children has a 50-50 chance of having the gene.
Symptoms can range from mild to severe and can be very different even amongst family members. All HHT symptoms can be treated if detected before complications arise. According to the HHT Foundation it is recommended that everyone with HHT be assessed at a specialized HHT Center. Diagnosis and treatment for HHT is complex and has changed significantly in the last decade. There are three known mutations of HHT although it is suspected there are more that have not yet been discovered.
You can learn more about HHT by visiting the HHT Foundation’s Website.