Case for diagnosis

Boza, Juliana Catucci; Dorn, Timotio Volnei; Oliveira, Fabiana Bazanella de; Bakos, Renato Marchiori

doi:10.1590/abd1806-4841.20143232

Cited by 5 publications

(3 citation statements)

References 11 publications

(11 reference statements)

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“…Gastrointestinal bleeding is the most common symptom after epistaxis; it occurs in approximately 13–30% of HHT patients, and most commonly begins after 50 years of age [3]. There are many case-reports and case series published in the literature describing patients with overt or obscure gastrointestinal bleeding, however, specific data regarding the occurrence of gastrointestinal bleeding related to HHT is still lacking [4, 5]. In an article by Canzonieri et al they describe a cohort of 22 HHT patients who underwent gastroduodenoscopy, capsule endoscopy and colonoscopy.…”

Section: Gastrointestinal Hhtmentioning

confidence: 99%

Rendu-Osler-Weber disease: a gastroenterologist’s perspective

Tortora

Riccioni

Gaetani

et al. 2019

Orphanet J Rare Dis

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Hereditary hemorrhagic teleangectasia (HHT, or Rendu-Osler-Weber disease) is a rare inherited syndrome, characterized by arterio-venous malformations (AVMs or Telangiectasia). The most important and common manifestation is nose bleeds (epistaxis). The telangiectasias (small AVMs) are most evident on the lips, tongue, buccal mucosa, face, chest, and fingers, however; large arterio-venous malformations can also occur in the lungs, liver, pancreas, or brain. Telangiectasias in the upper gastrointestinal tract are known to occur, however data regarding possible small-bowel involvement is limited due to technical difficulties in visualizing the entire gastrointestinal tract. The occurrence of AVMs in the stomach and small bowel can result in chronic bleeding and anaemia. Less frequently, this may occur due to bleeding from oesophageal varices, as patients with HHT can develop hepatic parenchymal AVMs or vascular shunts which cause hepatic cirrhosis and portal hypertension. Gastroenterologists have a crucial role in the management of these patients, however difficulties remain in the detection and management of complications of HHT in the gastrointestinal tract.

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Section: Gastrointestinal Hhtmentioning

confidence: 99%

Rendu-Osler-Weber disease: a gastroenterologist’s perspective

Tortora

Riccioni

Gaetani

et al. 2019

Orphanet J Rare Dis

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“…Epistaxis and mucocutaneous telangiectasias are the most common clinical manifestations which are typically seen (in 90%) on the lips, buccal mucosa, and fingertips, while 75% of the patients have small telangiectasias in upper gastrointestinal (GI) mucosa of which only 30% will eventually suffer from GI bleeding. The onset of symptoms is usually in the third decade of life, but it is reported in all age groups 2,3 .…”

Section: Introductionmentioning

confidence: 99%

Rupture of suppurated liver hematoma into the anterior abdominal wall in a patient with Rendu-Osler-Weber syndrome

Petrović¹,

Pavlek²,

Romic³

et al. 2020

CIRU

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We report a case of ruptured liver hematoma as a result of suppurated arteriovenous malformation (AVM) in a patient with Rendu-Osler-Weber (ROW) syndrome. The patient presented with unexplained fever and upper right abdominal pain associated with microcytic anemia. A computed tomography scan revealed increasing subcapsular liver hematoma and features of liver abscess. Intraoperatively, a left liver hematoma mixed with pus was found that was attached to the anterior abdominal wall. Surgery included left lateral bisegmentectomy, while pathohistological analysis showed AVM and genetic tests confirmed ROW. This is the first such life-threatening surgical case of ROW complication reported in the scientific literature.

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“…Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal-dominant hereditary disease presenting as a vascular dysplasia of multiple organs [ 1 ]. The prevalence rate in all races suggested in some population studies is 1 in 10,000, and 2 mutations have been identified, occurring in 85% of cases: type 1 is related to a mutation in the endoglin gene (ENG, chromosome 9q34.1), and type 2 is related to a mutation in the activin receptor-like kinase 1 gene (ACVRL 1, ALK1, chromosome 12q31.34), with a mild phenotype and late onset [ 2 ]. Potential neurologic complications of HHT are attributed to pulmonary arteriovenous malformations (PAVMs) and include embolic stroke and cerebral abscess [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Orthodeoxia without Platypnea in Hereditary Hemorrhagic Telangiectasia in the Presence of a Cerebral Abscess and Multiple Pulmonary Arteriovenous Malformations: Unusual Complications and Transcatheter Endovascular Treatment

Salazar

Blank

Palmero

2017

Case Reports in Pulmonology

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Hereditary hemorrhagic telangiectasia is a rare autosomal-dominant condition affecting visceral blood vessel development. Cerebral and most commonly pulmonary arteriovenous malformations are found in the majority of symptomatic patients. The most common complications include embolic strokes and cerebral abscesses, which have been attributed to abnormal vessel communications. Platypnea orthodeoxia is a rare condition that presents dyspnea and oxygen desaturation when adopting an upright position and is relieved on decubitus. The association between hereditary hemorrhagic telangiectasia, pulmonary arteriovenous malformations, and platypnea orthodeoxia has been described in medical literature; however, orthodeoxia as a single entity without platypnea has not been described yet, especially associated with complications of this hereditary condition. We present the case of a 38-year-old male with persistent headaches, in whom a cerebral lesion was detected. Orthostatic tachycardia and severe orthodeoxia without platypnea were evidenced during physical examination. The patient was subsequently diagnosed with hereditary hemorrhagic telangiectasia and underwent cerebral abscess drainage as well as transcatheter endovascular closure of multiple pulmonary arteriovenous malformations. For this reason, the concept of platypnea orthodeoxia syndrome needs further revision. Patients presenting refractory hypoxemia should warn physicians to initially evaluate their oxygen saturation measurements during standing and decubitus position, even though platypnea may not be present.

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Case for diagnosis

Cited by 5 publications

References 11 publications

Rendu-Osler-Weber disease: a gastroenterologist’s perspective

Rendu-Osler-Weber disease: a gastroenterologist’s perspective

Rupture of suppurated liver hematoma into the anterior abdominal wall in a patient with Rendu-Osler-Weber syndrome

Orthodeoxia without Platypnea in Hereditary Hemorrhagic Telangiectasia in the Presence of a Cerebral Abscess and Multiple Pulmonary Arteriovenous Malformations: Unusual Complications and Transcatheter Endovascular Treatment

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