Abstract
The incidence of Osler–Weber–Rendu disease is low, ranging from 1 detected case per 50,000 to 1 per 100,000 population. The disease is hereditary, with autosomal dominant transmission, caused by pathogenic mutations in genes involved in angiogenesis. The disease has a pronounced clinical picture of multiple telangiectasias of the skin and mucous membranes and manifests as spontaneous bleeding. This scientific article presents a clinical analysis of a 65-year-old patient with a diagnosis of Osler–Weber–Rendu disease. Early identification of the manifestations of this disease and careful observation of the patient give a favorable prognosis of the course and prevent the development of severe complications.
Highlights
We present the clinical case of Osler–Weber–Rendu disease in patient O., 65 years old, who was hospitalized in the Department of Gastroenterology and Therapy of the government institution L
Doctors could have been misled by the late onset of the disease at age 65 because, as a rule, the clinical debut of hemorrhagic telangiectasia (HHT) is in adolescence
The diagnosis of HHT is based on the Curacao criteria established by the Scientific Department of the International Foundation for Hereditary Hemorrhagic Telangiectasia in 1999 9,15–17: spontaneous and recurrent epistaxis, multiple telangiectasias in characteristic sites, injury of internal organs, and family history
Summary
Osler reported three clinical cases of HHT He drew attention to the hereditary characteristics of the disease; for the first time, he described the injury of internal organs [5,6,7]. We present the clinical case of Osler–Weber–Rendu disease in patient O., 65 years old, who was hospitalized in the Department of Gastroenterology and Therapy of the government institution L. Malaya National Academy of Medical Sciences of Ukraine She underwent video esophagoduodenoscopy (showing distal esophagitis, congestive gastroduodenopathy, and multiple telangiectasias of the stomach; Osler–Weber–Randu disease) and ultrasound examination of the abdominal organs (showing diffuse changes in the liver, echo signs of chronic pancreatitis, cholelithiasis, and solitary microliths of the kidneys). Nodular goiter stage I. telangiectasias of the mucous membranes of the oral cavity, lips, ears, facial skin, and palms; hereditary history (mother and brother; according to the criteria of Curacao). Tardyferon 80 mg twice a day in the morning and evening, depending on clinical blood tests
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