Hereditary hemorrhagic telangiectasia

Introduction Hereditary hemotthagic telangiectasis is a hemorrhagic disease caused by abnormal autosomal dominant vascular wall structure. It is characterized by multiple capillaries of the skin, mucous membranes and internal organs, or small arteries, venules, and repeated bleeding in the lesions. The liver is often affected. There is a lack of elastic fiber and smooth muscle support around, which causes local vasodilatation, distortion and brittleness to change and is prone to bleeding. The reported incidence rate abroad is 1-2/100,000.

Cause

The disease is an autosomal dominant hereditary disease, which can be inherited by both men and women. The lesion is located in the vessel wall and is characterized by telangiectasia, arteriovenous malformations, and aneurysms. The blood vessels are distorted or dilated, and sometimes only the endothelial cells undergo degeneration, and the endothelial cells are connected with defects. The diseased blood vessels can be ruptured and hemorrhage due to slight external force or intravascular blood flow pressure.

an examination

Related inspection

Cardiac angiography

1. B-mode ultrasound often shows intrahepatic vasodilatation, sometimes visible pulsation of blood vessels, radioactive radionuclide scanning can be seen in the effective radioactive defect area of the liver, CT can be seen to change the distortion and expansion of blood vessels.

2. Angiography is common to the expansion and distortion of the affected blood vessels. There are small nodular contrast agents in the veins, and early venous filling, suggesting arteriovenous shunt.

Differential diagnosis

Differential diagnosis of hereditary hemorrhagic telangiectasia

1. Spider mites: Spider angioma is formed by a central small artery and many small blood vessels that are scattered outward. The shape is named after a spider.

2, red sputum: sputum is a localized skin pigment abnormality can be born, but also the day after tomorrow. There are red dragonflies and black cockroaches for life. Red dragonfly is the essence of human blood, so the red dragonfly is mostly Kyrgyzstan.

3, venule dilatation: telangiectasia and repeated bleeding in the same site, due to the fragility of the blood vessel wall, the clinical beam arm test is often positive, and bleeding time is prolonged. Angiography has a diagnostic value.

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