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Hereditary haemorrhagic telangiectasia: Treatment, symptoms, advice and help

About hereditary haemorrhagic telangiectasia

Hereditary haemorrhagic telangiectasia is a genetic disorder characterised by structural malformations of the blood vessels. In normal individuals, the blood flows at high pressure in the arteries which perfuse the tissues via small vessels called capillaries. Blood from these capillaries then flow to the veins.

But in this disorder, blood from arteries directly flows into the veins which are thinner and have less elasticity than arteries. This causes ballooning and weakening of the veins, making them more prone to rupture and hence result in bleeding.

Hereditary aemorrhagic telangiectasia: Incidence, age and sex

Hereditary haemorrhagic telangiectasia which is an inherited disorder, is usually present since birth but appears clinically anytime between childhood to adulthood. 1 in 5000 individuals may get afflicted.

Signs and symptoms of hereditary haemorrhagic telangiectasia: Diagnosis

The signs and symptoms of hereditary haemorrhagic telangiectasia depend upon the site where the blood vessels are involved. The first and most common symptom in most of the individuals is bleeding from the nose. Another commonly seen sign is visible reddish purple skin lesion (called telangiectasia) especially on the face, mouth, lips, nose and tips of the fingers which result from arterial-venous malformation just under the skin. Rarely similar lesions may occur in the digestive tract and brain which is manifested by recurrent gastrointestinal bleeding and stroke respectively.

The diagnosis of hereditary haemorrhagic telangiectasia is based upon comprehensive clinical evaluation which will reveal the presence of typical skin lesions. Certain investigations like endoscopy or angiography may be required, if there is bleeding from other sources.

Causes and prevention of hereditary haemorrhagic telangiectasia

Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder which occurs as a result of mutation in ACVRL1, ENG and SMAD4 genes. A defective gene in one of the parents is sufficient to cause the disorder. There are 4 types (type 1, 2, 3 and juvenile) of hereditary haemorrhagic telangiectasia, depending upon the type of gene affected. Affected individuals are advised to undergo genetic counselling before planning a family.

Hereditary haemorrhagic telangiectasia: Complications

As the disorder progresses, it may involve vital organs like the brain, the lungs and the heart which may subsequently cause life-threatening health concerns. Blood loss may lead to anaemia which can cause general weakness, fatigue and shortness of breath. Sudden heavy blood loss, although rare, can lead to hypovolemic shock which needs immediate resuscitative measures.

Hereditary haemorrhagic telangiectasia: Treatment

Timely detection of the disorder is of the utmost importance so that it can be effectively managed before any irreversible organ damage is done. The evaluation and subsequent management requires a multi-disciplinary approach including an internist, haematologist, neurologist, gastroenterologist and interventional radiologist. Treatment modalities include drugs, surgery and supportive measures. Drugs which inhibit fibrinolysis like aminocaproic acid may be prescribed. Iron and vitamin supplements may also be advised to correct underlying anaemia. Repeated blood transfusions can be considered to compensate for persistent blood loss. Surgical procedures like laser ablation and surgical resection may be considered in accessible lesions which cause nose or upper gastrointestinal bleeds.