Hereditary hemorrhagic telangiectasia

Introduction to hereditary hemorrhagic telangiectasia Hereditary hemorrhagic telangiectasia is an autosomal dominant hereditary disease characterized by multiple capillaries, small arteries, venules, and repeated bleeding in the skin, mucous membranes, and internal organs. The liver is often affected. Part of the patient's capillaries and small blood vessel walls become thinner, consisting only of a layer of endothelial cells, surrounded by lack of connective tissue support, resulting in local vasodilation and distortion. Common in the mouth, nasal mucosa, palms, nail beds and ears and digestive tract. The lesion is needle-like, spot-like or patchy, small nodular, or aneurysm-like or spider-like, can be higher than the surface of the skin, disappeared after pressurization, and lightly pressed with a slide sometimes shows small arterial pulsations. basic knowledge The proportion of illness: 0.002% Susceptible people: no specific population Mode of infection: non-infectious Complications: anemia

Causes of hereditary hemorrhagic telangiectasia

Genetic factors (90%):

The disease is an autosomal dominant hereditary disease, both men and women can be infected, can be hereditary, the lesion is in the blood vessel wall, manifested as telangiectasia, arteriovenous malformation and aneurysm, thinning of the blood vessel wall, lack of elastic fiber, smooth muscle Lack of capillary wall and small arterial wall consists of only one layer of endothelial cells, the blood vessels are distorted or dilated, sometimes only the endothelial cells undergo degenerative changes, endothelial cell junction defects, diseased blood vessels may be due to slight external force, or intravascular blood Flow pressure can cause rupture and bleeding.

Hereditary hemorrhagic telangiectasia prevention

Avoid all factors that can trigger and aggravate bleeding. Avoid using drugs that cause increased blood volume, increased blood pressure, vasodilation, and blood.

Hereditary hemorrhagic telangiectasia complications Complications anemia

A common complication of the disease is anemia.

Hereditary hemorrhagic telangiectasia symptoms Common symptoms Capillary leak syndrome Hypoxemia Gastrointestinal bleeding Tremors Visceral hemorrhage Hematuria Red blood cell recurrence Hemorrhagic hepatomegaly Heart failure

More than 20 to 30 years old, some can occur in childhood.

The most prominent symptom is bleeding of the affected blood vessels, often repeated bleeding in the same site, more common nose in childhood, sinus gradually improved in adolescence, and the chance of visceral bleeding increased, the most common gastrointestinal bleeding, others may have Hemoptysis, hematuria, fundus hemorrhage, menorrhagia, subarachnoid hemorrhage, etc.

Hepatic involvement, hepatomegaly due to increased blood flow through the arteriovenous fistula, liver pain and a certain degree of tenderness, sometimes a pulsating mass can be touched, tremor can be touched, and continuity can be heard. Vascular noise.

The shunt of arteriovenous fistula can produce a high dynamic circulation state, and can produce high-discharge congestive heart failure, which can cause hypoxemia, secondary polycythemia, chronic blood loss or frequent due to arteriovenous fistula of the lung. A large amount of bleeding can cause iron deficiency anemia.

Examination of hereditary hemorrhagic telangiectasia

1. B-mode ultrasound: It is often seen that the blood vessels in the liver are dilated, and sometimes the blood vessels are obviously beaten. The radionuclide scan shows the effective radioactive defect area of the liver, and the CT can be seen to change the blood vessel distortion and expansion.

2. Angiography: common to the expansion of the affected blood vessels, distortion, venous phase with small nodular contrast agent retention, and early venous filling, suggesting arteriovenous shunt.

Diagnosis and diagnosis of hereditary hemorrhagic telangiectasia

diagnosis

Positive family history, telangiectasia and repeated hemorrhage in the same site, due to the fragility of the vessel wall, the clinical beam arm test is often positive, and bleeding time is prolonged, angiography has a diagnostic value.

Differential diagnosis

1. Spider mites: Spider mites vary in size. The larger ones can reach 1.5cm in diameter. The central corpus callosum bulges the skin surface. The slides can be seen in the palpation. The telangiectasia around the corpus callosum can be seen in the radial direction. Occurs in the upper part of the trunk, especially in the face, neck and hands, can also occur in the traumatic area. Often one side, single hair, but also multiple. Multiple people should be suspected of having liver disease regardless of age. Similar damage can occur in the lips and nasal mucosa, but lacks a clear typical morphology.

2, red dragonfly: the disease occurs in middle-aged people and the elderly, occasionally seen in teenagers. The rash is bright red or cherries, small as a needle tip, as large as sesame seeds, often multiple, varying in number and size, smaller is only bright red spots, larger is soft, bulging on the skin surface, Hemispherical. Most common in the trunk and proximal extremities, occasionally occur in the scalp, face and distal extremities, not tired of the hands and feet.

3, small vein expansion and so on.

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