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11/276. Hereditary hemorrhagic telangiectasia with gingival lesion. review and case reports.

    A case of hereditary, hemorrhagic telangiectasia is described which has been under observation for more than 8 years. The clinical findings are discussed; light microscopic and electron microscopic findings as well as current research for a causative mechanism and recommended therapy are reviewed. The patient exhibited gingival telangiectatic participation. Another, even more severe case of this disease showed repeated, severe hemorrhage from mucosal lesions in the region of the incisive papilla, severe internal bleeding from the nasal mucosa and the gut and several punctate gingival telangiectases. The occurance of gingival lesions may not be as rare as thought. Such lesions may simply be rather inconspicuous. ( info)

12/276. Bilateral juxtafoveolar telangiectasis in monozygotic twins.

    PURPOSE: To report the clinical and angiographic features of two monozygotic twins affected by bilateral group 2 idiopathic juxtafoveolar telangiectasis. METHOD: case reports. RESULTS: Two 64-year-old women, who were identical twins, were suffering from visual loss. One twin had suffered from visual loss for 1 year and had a visual acuity of 20/25 in both eyes, and the other twin had suffered for 2 years and had a visual acuity of 20/30 in both eyes. fluorescein angiography disclosed similar fundus features. An analogous area of capillary telangiectasis and leakage was observed in the right macula, where no intraretinal pigment was seen; the left macula showed a similar amount of intraretinal pigment associated with tiny right-angle venules and minimal leakage. CONCLUSION: This observation raises the issue of genetic influences in the pathogenesis of this disease. ( info)

13/276. Hereditary haemorrhagic telangiectasia: hepatic lesions demonstrated with colour Doppler and power Doppler sonography.

    Visceral vascular abnormalities in patients with hereditary haemorrhagic teleangiectasia (HHT) include teleangiectasis, arteriovenous fistula (AVF), and aneurysms. Sonographic findings and colour Doppler ultrasound (CDU) features of HHT in the liver have been described in a few reports. Presented here is the CDU finding of liver with HHT involvement in two patients, aged 52 and 29 years, respectively. Power Doppler sonography was also performed in the first patient in whom both CDU and power Doppler sonography could demonstrate the abnormal vascular channels in the liver. In the second patient, aneurysms in the left hepatic lobe and of the splenic artery were noted. Angiography was performed in both patients and confirmed the abnormal vascular lesions demonstrated by CDU and/or power Doppler sonographic findings. ( info)

14/276. Recurrent gastrointestinal bleeding and high output cardiac failure caused by hereditary hemorrhagic telangiectasia.

    Hereditary hemorrhagic telangiectasia, commonly known as Osler-Weber-Rendu disease, is a systemic autosomal dominant inherited disorder, that occurs in Caucasian populations. We report the case of a 56-year-old housewife who was admitted to the gastrointestinal and cardiovascular ward because she had suffered from recurrent gastrointestinal bleeding and heart failure from 1994 to 1997. Panendoscopy showed vascular ectasia scattered over the tongue, larynx, esophagus, and posterior wall of the gastric body. colonoscopy showed clusters of telangiectasia over the cecum and ascending colon. arteriovenous malformations (AVMs) were found in the liver and lungs on computerized tomography. Recurrent gastrointestinal bleeding was controlled by estrogen treatment during the follow-up period. In July 1997, the patient was readmitted to our cardiovascular section due to aggravated dyspnea, orthopnea and bilateral lower leg edema. cardiac catheterization showed a large fistula from the left pulmonary artery to the left atrium and left ventricle, pulmonary arterial pressure of 37/13 mmHg and cardiac output of 9.61/minute. Other studies excluded the possibility of sepsis, and high-output cardiac failure was suspected. The patient was discharged in a stable condition and scheduled for AVM embolization management. Unfortunately, she died of a suspected heart attack at home two weeks following discharge. ( info)

15/276. arteriovenous malformations of the gastrointestinal tract.

    During an eight-year period, 17 patients ranging in age from 7 months to 81 years were found to have arteriovenous malformations (AVMs) of the gastrointestinal tract complicated by major hemorrhage. After review of these cases, a clinical classification of AVMs was developed, based on angiographic characteristics, localization, age of the patient, and family history. Type 1 AVMs were solitary, localized lesions within the right side of the colon. They occurred in seven patients 55 years of age or older. None were palpable or visible at operation. Type 2 AVMs occurred in seven patients. They were larger and occasionally visible, most commonly in the small intestine, and probably of congenital origin. Symptoms all began before 50 years of age. Type 3 AVMs were punctate angiomas causing gastrointestinal hemorrhage. They occurred in three patients with the classical findings of hereditary hemorrhagic telangiectasia. The diagnosis of most AVMs can be determined preoperatively only by selective angiographic studies. ( info)

16/276. Fiberoptic endoscopy during laparotomy in the diagnosis of small intestinal bleeding.

    A patient with recurrent gastrointestinal bleeding caused by hereditary hemorrhagic telangiectasia localized to the small intestine is described. The diagnosis was made by combining two recognized investigational tools-fiberoptic endoscopy and laparotomy. ( info)

17/276. Chronic painless hematuria and urethral bleeding as the presenting manifestations of Osler-Weber-Rendu disease.

    A case of a young man with profound iron deficiency anemia, chronic painless hematuria and urethral bleeding is presented. He had the typical cutaneous findings of Osler-Weber-Rendu disease (hereditary hemorrhagic telangiectasia). Appropriate urological studies demonstrated bladder and urethral telangiectases, with no other explanation for the bleeding. Osler-Weber-Rendu disease should be considered in the differential diagnosis of chronic painless hematuria. ( info)

18/276. Hereditary hemorrhagic telangiectasia or Rendu-Osler-Weber syndrome in the same family.

    The authors present the case of three patients from the same family in whom hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber syndrome was diagnosed. The disease is rare and occurs with multiple telangiectases of the skin and mucosa, and pulmonary arteriovenous fistulae. The clinical status of our patients included multiple telangiectases of the skin and mucosa, recurrent epistaxis, exertion dyspnea and cyanosis. polycythemia and hypoxemia were observed in the blood. The clinical status and conventional radiological examination of the thoracic region, with the suspicion of arteriovenous (A-V) fistulae, pointed to HHT. A-V fistulae were confirmed by pulmonary angiography. The pulmonary A-V fistulae were operated in all three patients and diagnosis was confirmed by histopathological examination of the operated samples. Clinical improvement was observed after the operation and cyanosis, dyspnea, hypoxemia and polycythemia disappeared. ( info)

19/276. liver transplantation for hepatic arteriovenous malformation with high-output cardiac failure in hereditary hemorrhagic telangiectasia: hemodynamic study.

    We describe a case of orthotopic liver transplantation used as a therapeutic method to correct high output cardiac failure related to a liver arteriovenous fistula due to hereditary hemorrhagic telangiectasia. Detailed hemodynamic changes as they occurred during liver transplantation are described. ( info)

20/276. brain abscess and hereditary haemorrhagic telangiectasia: a report of three cases.

    Hereditary haemorrhagic telangiectasis (HHT) has long been viewed as a rare disease which is not usually associated with high morbidity and mortality. We report three patients with HHT who developed cerebral abscesses secondary to pulmonary arteriovenous malformations (PAVM). ( info)
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