bubble_chart Overview

Hereditary hemorrhagic telangiectasia is an autosomal dominant genetic disorder characterized by multiple capillary or small arteriolar and venular dilations in the skin, mucous membranes, and internal organs, along with recurrent bleeding at the affected sites. The liver is frequently involved.

bubble_chart Pathological Changes

The pathological changes of this disease occur in the vascular wall, manifesting as capillary dilation, arteriovenous malformations, and {|###|}stirred pulse tumors. The vascular wall becomes thin, with a lack of elastic fibers and smooth muscle. The capillary walls and small {|###|}stirred pulse walls are composed of only a single layer of endothelial cells. The vessels are tortuous or dilated, and sometimes the only endothelial cells undergo degenerative changes, with defects in endothelial cell junctions. The affected blood vessels can rupture and bleed due to minor external forces or intravascular blood flow pressure. It commonly occurs in the skin and mucous {|###|}membranes, especially on the back of the hands, face, scrotum, and other areas.

The pathological changes in the liver mainly involve arteriovenous malformations, leading to arteriovenous shunting. Generally, there is no hepatocyte necrosis or inflammatory cell infiltration in the liver. The primary changes include: ① combined hepatic fibrosis or cirrhosis with {|###|}liver blood vessel dilation; ② only cirrhosis without vascular dilation; ③ only {|###|}liver blood vessel dilation without hepatic fibrosis or cirrhosis.

bubble_chart Clinical Manifestations

The onset mostly occurs between the ages of 20 and 30, with some cases manifesting in childhood.

The most prominent symptom is rupture and bleeding of the affected blood vessels, often recurring at the same site. Epistaxis is more common in childhood, but tends to improve during adolescence, while the likelihood of visceral bleeding increases, with gastrointestinal bleeding being the most frequent. Other manifestations may include hemoptysis, hematuria, retinal hemorrhage, hypermenorrhea, and subarachnoid hemorrhage.

Liver involvement may lead to hepatomegaly due to increased blood flow through hepatic arteriovenous fistulas, accompanied by liver pain and varying degrees of tenderness. A pulsatile mass may sometimes be palpated locally, with a noticeable tremor and audible continuous vascular murmur.

Arteriovenous fistulas can create a high-output circulatory state and may lead to high-output congestive heart failure. Pulmonary arteriovenous fistulas can cause hypoxemia and secondary polycythemia. Chronic blood loss or frequent, massive bleeding may result in iron-deficiency anemia.

bubble_chart Auxiliary Examination

1. Type B ultrasound often reveals dilation of intrahepatic blood vessels, sometimes with noticeable vascular pulsations. Radionuclide scanning may show areas of effective radioactive defects in the liver. CT can detect changes such as vascular tortuosity and dilation.

2. Angiography frequently shows dilation and tortuosity of the affected blood vessels, with nodular retention of contrast agent in the venous phase, as well as early venous filling, indicating arteriovenous shunting.

bubble_chart Diagnosis

Positive family history, telangiectasia, and recurrent bleeding at the same site. Due to the fragility of the blood vessel walls, the clinical tourniquet test is often positive, with prolonged bleeding time. Angiography has diagnostic value.

bubble_chart Treatment Measures

1. Hemostasis

Superficial bleeding is mainly treated with compression hemostasis. For visceral bleeding, consider using adrenobazone to aid small vessel contraction and posterior pituitary hormone to reduce intravascular pressure in visceral vessels.

2. Blood transfusion

Only used for cases with massive loss of blood, but should not be excessive to avoid elevated blood pressure making bleeding difficult to stop.

3. Iron supplementation

Suitable for patients with chronic loss of blood-induced anemia.

4. Others

Hepatic stirred pulse embolization can be used to treat hepatic arteriovenous fistula. β-blockers can improve hyperdynamic circulation, reduce liver blood flow, and decrease shunt volume.