Rendu-Osler-Weber Syndrome, also known as Hereditary Hemorrhagic Telangiectasia, Babington disease, or Goldstein syndrome, is a genetic disorder caused by abnormal development of blood vessel walls. Its characteristic lesions involve bright red or purplish capillary or small blood vessel dilation in the skin and mucous membranes, leading to bleeding in these areas. When it occurs in the mucous membranes of the digestive tract, it results in gastrointestinal bleeding.

bubble_chart Pathological Changes

This disease is an autosomal dominant genetic disorder, with the basic pathological changes being the thinning of capillary, small arterial, and small venous walls in the skin mucosa. In some areas, the vessel walls consist of only a single layer of endothelial cells, lacking surrounding elastic connective tissue support, leading to tortuous dilation of blood vessels and possible formation of hemangiomas. The skin mucosa throughout the body can be affected, and visceral mucosal lesions are most commonly found in the digestive tract.

bubble_chart Clinical Manifestations

This disease commonly occurs in young and middle-aged adults and can affect both men and women. Its typical lesions manifest as bright red or purplish-red dilated capillaries or small blood vessels on the skin and mucous membranes, measuring 1–3 mm in diameter. The lesions may appear as pinpoint spots, small nodules, masses, or hemangioma-like shapes, with their color disappearing upon pressure. These lesions often develop on the hands, feet, face, lips, oral cavity, nasal cavity, and digestive tract. The dilated blood vessels may bleed spontaneously or after minor trauma, often resulting in recurrent bleeding at the same site. Epistaxis and gum bleeding are common symptoms. Internal bleeding most frequently occurs in the digestive tract, presenting as recurrent melena or hematemesis, sometimes accompanied by abdominal pain. Clinically, it is often misdiagnosed as ulcer disease or bleeding due to other causes. A minority of cases may experience hemoptysis, hematuria, hypermenorrhea, or bleeding tendencies in other organs. Severe bleeding can lead to blood loss anemia.

1. Laboratory tests often show no positive findings, with normal platelet count and coagulation function. If combined with hereditary coagulation factor deficiency, prolonged prothrombin time may occur.

2. Nailfold capillaroscopy may show tortuous and dilated capillary loops.

3. For patients with gastrointestinal bleeding, gastrointestinal X-ray examination reveals no positive findings.

4. Gastroscopy or fiber colonoscopy may reveal dilated vascular lesions in the gastrointestinal mucosa.

bubble_chart Diagnosis

Especially in cases of recurrent gastrointestinal bleeding of unknown cause, combined with a family history, the possibility of this disease should be considered, and relevant endoscopic examinations should be performed to aid in diagnosis.

bubble_chart Treatment Measures

The main treatment is symptomatic management. For example, applying pressure to stop bleeding on the skin or mucous membranes, and using hemostatic medications such as adrenobazone, etamsylate, and Yunnan Baiyao. In cases of severe gastrointestinal bleeding, emergency endoscopic hemostasis can be performed, including spraying hemostatic medications, injecting sclerosing agents, and laser or electrocoagulation. Surgical removal of the lesion may be necessary if required.

bubble_chart Differentiation

Pay attention to differentiate from bleeding and coagulation disorders.