Hereditary hemorrhagic telangiectasia

Introduction to hereditary hemorrhagic telangiectasia Hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber syndrome, is a hereditary systemic vascular abnormal disease. For the skin and mucous membranes, multiple clusters of telangiectasia, often accompanied by nosebleeds and blood in the stool, some of the internal organs such as the gastrointestinal and liver may also have telangiectasia. basic knowledge Probability ratio: Susceptible people: no special people Mode of infection: non-infectious Complications: pulmonary arteriovenous fistula hemoptysis secondary polycythemia anemia

Causes of hereditary hemorrhagic telangiectasia

Causes:

The cause is unknown, and it is autosomal dominant. This disease is a hemorrhagic disease caused by abnormal blood vessel development.

Pathogenesis:

It is especially rare to carry genes without disease, but 20% of patients have unclear family history, which may be caused by neglected skin lesions in some patients. In addition, the physiological contraction function of peripheral arterioles is weakened, and vascular muscles and elastic tissues cannot be Completed the self-enclosed hemostasis process, which led to the disease, and scholars found that the perivascular tissue defect, the connection with the vascular endothelial cells broke and caused bleeding.

The basic lesion is thinning of the small blood vessel wall, and there are only some loose connective tissue around the diseased blood vessel. Generally, the elastic fiber and smooth muscle components of the blood vessel wall are lacking, and the stimulation of the sympathetic nerve and blood vessel wall active material of the blood vessel wall lacks normal relaxation and contraction function. In the impact of blood flow, the blood vessels in the lesion may have nodular or tumor-like dilation, and in severe cases, arteriovenous or arteriovenous fistula may occur.

Hereditary hemorrhagic telangiectasia prevention

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

Hereditary hemorrhagic telangiectasia complications Complications pulmonary arteriovenous fistula hemoptysis secondary polycythemia anemia

Gastrointestinal hemorrhage is the most common complication in the clinic. Typical telangiectasia can be seen by fiberoptic gastroscopy. Pulmonary arteriovenous fistula, repeated hemoptysis, hypoxia-induced cyanosis, secondary polycythemia and clubbing, etc. Bleeding can be spontaneous bleeding or bleeding after minor injury, repeated bleeding, can cause secondary anemia, dizziness, vertigo, palpitations, fatigue and other performance.

Hereditary hemorrhagic telangiectasia symptoms Common symptoms Nasal bleeding repeated bleeding hemoptysis blood vessel wall thinning gastrointestinal bleeding visceral hemorrhage hematuria

The most prominent manifestation of this disease is telangiectasia and repeated bleeding in the same site. Expanded capillaries are most easily found in the skin and mucous membranes, such as the tongue, lips, palate, palm, face, nasal mucosa, back of the hand, sole of the foot, scrotum, etc. The appearance of the lesion is bright red or purple red telangiectasia, the shape is different, can be needle-like, nodular, can also be spider-like or small aneurysm-like, diameter 1 ~ 3mm, lightly compress the lesion with a slide When the blood vessels beat, the heavy pressure can make it disappear, and if it is not pressed, it will immediately return to its original performance.

Hereditary hemorrhagic telangiectasia

The laboratory diagnosis of this disease has no specific indicators, and the number of white blood cells and platelets is normal. If repeated hemorrhage repeatedly, it can lead to secondary small cell hypochromic anemia, bleeding time is normal, a few patients can be prolonged; capillary fragility test can be Positive; acne microscopic examination, telangiectasia, irregular alignment or distortion; a small number of patients may be associated with platelet dysfunction or clotting factor deficiency.

Fiberoptic endoscopy (bronchoscopy, cystoscopy, gastroscopy, colonoscopy, hysteroscopy, laparoscopy) is helpful for diagnosis; pulmonary arteriovenous fistula can be confirmed by pulmonary angiography.

Diagnosis and diagnosis of hereditary hemorrhagic telangiectasia

Diagnostic criteria

The most common clinical manifestations of this disease are repeated epistaxis and gingival hemorrhage, which can occur in childhood. As the age increases, the nosebleed gradually decreases, while gastrointestinal bleeding, hemoptysis, hematuria and other visceral hemorrhage gradually increase.

Mainly based on:

1 repeated bleeding in the same site, failed to find other reasons;

2 facial, oral, nasal multifocal skin or mucosal telangiectasia;

3 positive family history;

4 pathological examination of the lesion site showed thinning of the vessel wall, lack of elastic fibers, smooth muscle and so on.

If the bleeding is mainly visceral, and there is no skin telangiectasia, and there is no positive family history, the diagnosis is more difficult.

Diagnostic evaluation: If there is skin, mucous membrane typical multiple telangiectasia and repeated bleeding in the same site, the diagnosis of this disease is not difficult, the disease is autosomal dominant, but most patients can not ask a family history; There is no skin, mucosal lesions and visceral hemorrhage as the first manifestation; some patients first become ill after 50 years of age, which will bring some difficulty to the diagnosis, and may be missed. For those suspected of gastrointestinal bleeding, the disease should be done early. Endoscopy, and carefully check the nose and mouth for telangiectasia to aid in diagnosis, biopsy should be used with caution for gastrointestinal lesions to avoid serious bleeding, and gastrointestinal intermittent bleeding for endoscopic findings Feasible angiography, CT and B-mode ultrasound examinations are not helpful for finding small lesions.

Differential diagnosis

1. Spider mites: occur in liver disease, pregnancy, malnutrition, adrenal hyperfunction, composed of enlarged small arteries and their branches, central bulge, visible pulsation, about 3 ~ 10mm in size, spider-like pseudopod, pressure Fading, generally distributed in the neck, face, chest, waist, does not occur in the mucosa.

2. Keratotic hemangioma: found in the elderly and the elderly, mostly distributed in the upper limbs and trunk, does not occur in the mucous membrane, internal organs, can be higher than the leather surface, the surface is excessively keratinized, the color is bright red, the boundary is clear, the pressure is not Fading, hard to touch, no pulsation, no bleeding tendency in the lesion, long-term observation, there is a tendency to grow slowly.

3. Small vein dilatation: more common in the elderly, often distributed in the mouth, buccal mucosa, inner thigh, dilated venules are strip-like, twisted, higher than the skin and mucosal surface, no pulsation, no spontaneous bleeding .

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.