How do I know if I have Hereditary Hemorrhagic Telangiectasia?

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a genetic disorder that affects blood vessels throughout the body. It is characterized by the development of abnormal blood vessels called telangiectasias, which are fragile and prone to bleeding. These telangiectasias can occur in various organs, including the nose, skin, lungs, liver, and brain.

If you suspect that you may have HHT, there are several signs and symptoms to look out for:

Nosebleeds: Recurrent and spontaneous nosebleeds are one of the most common symptoms of HHT. These nosebleeds can be frequent, severe, and difficult to control. They often start in childhood and may worsen over time.

Telangiectasias: These are small, dilated blood vessels that appear close to the surface of the skin or mucous membranes. They can be seen as red or purple spots or lines on the lips, face, fingers, or inside the mouth. Telangiectasias are a hallmark feature of HHT.

Visceral arteriovenous malformations (AVMs): HHT can also cause abnormal connections between arteries and veins in internal organs. Visceral AVMs can lead to various complications depending on the affected organ. For example, lung AVMs can cause shortness of breath, while liver AVMs can result in high-output heart failure.

Family history: HHT is an inherited disorder, so having a close family member with a confirmed diagnosis increases the likelihood of having the condition. If you have a parent, sibling, or child with HHT, it is important to consider the possibility of having inherited the gene mutation.

Other symptoms: HHT can also present with symptoms such as gastrointestinal bleeding, anemia, stroke, and brain abscesses. These complications are more severe and less common than nosebleeds and telangiectasias.

If you suspect you may have HHT based on these signs and symptoms, it is crucial to consult with a healthcare professional who specializes in the diagnosis and management of this condition. They will evaluate your medical history, perform a physical examination, and may recommend further tests, such as genetic testing or imaging studies, to confirm the diagnosis.

Early diagnosis and appropriate management are essential in HHT to prevent complications and improve quality of life. Treatment options may include medications to control bleeding, laser therapy to manage telangiectasias, embolization or surgery for AVMs, and regular monitoring to detect and address potential issues.