Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis

Khoja, Amir M; Jalan, R; Jain, Dheeraj; Kajale, Omkar V

doi:10.4103/0970-2113.180878

Cited by 7 publications

(4 citation statements)

References 4 publications

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“…Osler-Weber-Rendu syndrome also affects the respiratory system [ 64 ]. The most severe consequences of pulmonary arteriovenous malformations (PAVMs) are cerebral implications, with brain abscess being one of the most common and severe ones [ 65 ].…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Upper Gastrointestinal Bleeding: Osler-Weber-Rendu Syndrome

Jargielo

Rycyk

Kasztelan-Szczerbińska

et al. 2022

Medicina

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Osler-Weber-Rendu disease, also known as hereditary hemorrhagic telangiectasia (HHT), is a rare, autosomal dominant condition that affects approximately 1 in 5000 patients causing abnormal blood vessel formation. HHT patients have mucocutaneous telangiectasias and arteriovenous malformations in various organs. The most prominent symptom of HHT is epistaxis, which, together with gastrointestinal bleeding, may cause iron deficiency anemia. This study is a case report of a 62-year-old patient who was admitted to the Department of Gastroenterology due to acute upper gastrointestinal bleeding and a history of recurrent epistaxis and melena for 4 days, which was confirmed in digital rectal examination. Urgent upper gastrointestinal endoscopy revealed active bleeding from multiple angioectatic spots with bright-looking salmon-colored patches in the antrum and the body suggestive of HHT. The bleeding from two angioectatic spots was stopped by argon plasma coagulation, and four clips were placed to provide good hemostasis. The patient was treated with a proton pomp inhibitor infusion and iron infusion. She was discharged with no signs of GI bleeding, normalized iron levels and a diagnosis of HHT. She was referred to further genetic testing, including evaluation of first-degree relatives. She also had performed unenhanced thin-cut computed tomography (CT) with angiography to exclude the presence of pulmonary arteriovenous malformations (PAVMs). Due to the fact that the patient did not manifest any other HHT-related symptoms and that the instrumental screening discloses no silent AVMs in other organs, the “watch-and-wait strategy” was applied. Although, Osler-Weber-Rendu syndrome is widely described in the medical literature, effective treatment of gastrointestinal telangiectasias is not always available and still lacks standardization to date, which makes the management of gastroenterological involvement still a challenging issue.

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Section: Discussionmentioning

confidence: 99%

A Rare Case of Upper Gastrointestinal Bleeding: Osler-Weber-Rendu Syndrome

Jargielo

Rycyk

Kasztelan-Szczerbińska

et al. 2022

Medicina

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“…Believed to be the result of sporadic mutations in nearly 20% of cases with no positive family history, HHT is an autosomal dominant disease [8]. The definite diagnosis of this condition is established when a patient has 3 of the following signs and symptoms: telangiectasia, epistaxis, visceral lesion, and family history [8].…”

Section: Discussionmentioning

confidence: 99%

Multiple Pulmonary Arteriovenous Fistula in a Mother and His Son: A Case Report

Firouzi¹,

Behrooj²,

Pirborj³

et al. 2017

J Cardiovasc Dis Diagn

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Multiple Pulmonary Arteriovenous Fistulas (PAVFs) are rare vascular abnormalities in the general population, with a report on 15000 autopsies revealing only 3 cases of multiple PAVFs. However, these abnormal communications between pulmonary arteries and veins are commonly seen in patients with Hereditary Hemorrhagic Telangiectasia (HHT). Several conditions such as cirrhosis, chest trauma, metastatic carcinoma, schistosomiasis, and systemic amyloidosis are accountable for acquired form PAVF. We describe 2 patients (mother and son) with multiple PAVFs and no apparent signs or symptoms suggestive of HHT. A pulmonary artery injection wes performed for Case 1 (mother) and showed bilateral PAVFs with aneurysmal dilation. Given the diagnosis of PAVFs in the mother, we considered the same pathology for the child's symptoms. Therefore, the boy also underwent pulmonary angiography, which revealed multiple bilateral PAVFs. Both patients underwent interventional angiography and the PAVFs were occulted with stainless coil. In conclusion, the presence of multiple PAVFs should be considered in the differential diagnosis of patients with unexplained exertional dyspnea and cyanosis, even in the absence of diagnostic features suggestive of HHT.

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“…Osler Weber Rendu syndrome (OWRS) or hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disorder with incidence of 1-2 cases per 100,000 populations. 1 Pathologic dilation of post-capillary venules leads to diffuse distribution of arteriovenous malformations in the skin, mucosal surfaces increase as the age increases. Iron deficiency anemia from spontaneous recurrent epistaxis and gastrointestinal bleeding is very common and it was noticed in our patient.…”

Section: Introductionmentioning

confidence: 99%

A case of Osler-Weber-Rendu syndrome associated with portal hypertension

et al. 2022

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Osler-Weber- Rendu syndrome is a rare autosomal dominant vascular disorder, characterised by multiple telangiectases of the skin and mucous membranes with recurrent nasal and gastrointestinal bleedings and arteriovenous malformations of various organ systems. It is also called as hereditary hemorrhagic telangiectasia (HHT). The occurrence of telangiectases in the stomach and small bowel can result in chronic bleeding and anaemia. We report a rare case of 39 year old female with Osler Weber Rendu syndrome associated with portal hypertension. She had recurrent nasal and gastrointestinal bleeding, and presented with complaints of progressive dyspnea NYHA class III. On further evaluation she was found to have portal hypertension, which is a rare association.

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Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis

Cited by 7 publications

References 4 publications

A Rare Case of Upper Gastrointestinal Bleeding: Osler-Weber-Rendu Syndrome

A Rare Case of Upper Gastrointestinal Bleeding: Osler-Weber-Rendu Syndrome

Multiple Pulmonary Arteriovenous Fistula in a Mother and His Son: A Case Report

A case of Osler-Weber-Rendu syndrome associated with portal hypertension

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