Which are the symptoms of Hereditary Hemorrhagic Telangiectasia?

Symptoms of Hereditary Hemorrhagic Telangiectasia (HHT)

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic disorder that affects the 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 abnormal blood vessels can occur in various organs, leading to a wide range of symptoms. While the severity and specific symptoms can vary among individuals, there are several common signs to be aware of.

Nosebleeds (Epistaxis)

One of the most common and earliest symptoms of HHT is recurrent nosebleeds, medically known as epistaxis. These nosebleeds can be spontaneous, frequent, and sometimes severe. They often start during childhood and may worsen over time. Nosebleeds in HHT occur due to the presence of telangiectasias in the nasal lining, which are fragile and prone to rupture. The severity of nosebleeds can vary, with some individuals experiencing mild bleeding while others may have more significant episodes requiring medical intervention.

Telangiectasias

Telangiectasias are small, dilated blood vessels that appear close to the surface of the skin or mucous membranes. These abnormal blood vessels can occur in various locations, including the nose, lips, face, fingers, and gastrointestinal tract. Telangiectasias are typically red or purple in color and can range in size from pinpoint dots to larger patches. They are a hallmark feature of HHT and can be present from birth or develop later in life. The presence of telangiectasias can vary among individuals, and their severity does not necessarily correlate with the severity of other symptoms.

Visceral Arteriovenous Malformations (AVMs)

Another significant manifestation of HHT is the development of arteriovenous malformations (AVMs) in various organs. AVMs are abnormal connections between arteries and veins that bypass the capillary network, leading to direct blood flow between these vessels. In HHT, AVMs can occur in organs such as the lungs, liver, brain, and gastrointestinal tract. The symptoms associated with AVMs depend on their location and can range from mild to severe. Some common symptoms include shortness of breath, chest pain, fatigue, difficulty exercising, gastrointestinal bleeding, and neurological problems like headaches, seizures, or strokes.

Gastrointestinal Bleeding

HHT can cause bleeding in the gastrointestinal (GI) tract, which can lead to various symptoms. Gastrointestinal bleeding can occur due to the presence of telangiectasias or AVMs in the digestive system. The bleeding can be chronic or acute, resulting in symptoms such as dark or bloody stools, anemia, fatigue, weakness, and abdominal pain. The severity of GI bleeding can vary, and in some cases, it may require medical intervention or even surgery to control the bleeding.

Iron Deficiency Anemia

Chronic bleeding, particularly from the nose or GI tract, can lead to iron deficiency anemia in individuals with HHT. Anemia occurs when the body lacks sufficient iron to produce an adequate amount of red blood cells. Symptoms of anemia can include fatigue, weakness, pale skin, shortness of breath, dizziness, and an increased heart rate. It is important to monitor and manage anemia in individuals with HHT to prevent complications and improve overall well-being.

Other Symptoms

While nosebleeds, telangiectasias, AVMs, gastrointestinal bleeding, and anemia are the primary symptoms associated with HHT, there are other less common manifestations that can occur. These include skin discoloration or mottling, which may be more noticeable in fair-skinned individuals, as well as the presence of arteriovenous fistulas (abnormal connections between arteries and veins) in the lungs or other organs. Additionally, some individuals with HHT may experience complications related to AVMs, such as heart failure or brain abscesses, although these are relatively rare.

It is important to note that the symptoms and their severity can vary widely among individuals with HHT. Some individuals may have mild symptoms that do not significantly impact their daily lives, while others may experience more severe complications requiring ongoing medical management. If you suspect you or a loved one may have HHT, it is crucial to consult with a healthcare professional who can provide an accurate diagnosis and appropriate management plan.