Combined Juvenile Polyposis and Hereditary Hemorrhagic Telangiectasia

Williams, Jane-Claire B.; Hamilton, JM; Shiller, Michelle; Fischer, Laurice K.; dePrisco, Gregory; Boland, C. Richard

doi:10.1080/08998280.2012.11928877

Cited by 11 publications

(9 citation statements)

References 20 publications

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“…Patients with mutations of ACVRL1 may present later in life, while those with MADH4 mutations may present earlier in childhood with juvenile colonic polyps and early onset colorectal cancer (at a mean age of 28 years). 1 , 39 …”

Section: Epidemiology and Disease Coursementioning

confidence: 99%

Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective

2018

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Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation. The diagnosis of hereditary hemorrhagic telangiectasia is clinical, based on the Curaçao criteria. Genetic mutations that have been identified include ENG, ACVRL1/ALK1, and MADH4/SMAD4, among others. Patients with HHT may have telangiectasias and arteriovenous malformations in various organs and suffer from many complications including bleeding, anemia, iron deficiency, and high-output heart failure. Families with the same mutation exhibit considerable phenotypic variation. Optimal treatment is best delivered via a multidisciplinary approach with appropriate diagnosis, screening and local and/or systemic management of lesions. Anti-angiogenic agents such as bevacizumab have emerged as a promising systemic therapy in reducing bleeding complications but are not curative. Other pharmacological agents include iron supplementation, antifibrinolytics and hormonal treatment. This review discusses the biology of HHT, management issues that face the practising hematologist, and considerations of future directions in HHT treatment.

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Section: Epidemiology and Disease Coursementioning

confidence: 99%

Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective

2018

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“…Most AVMs present during childhood are mostly located in the hepatic vasculature followed by the pulmonary and cerebral vasculature in descending order [ 9 ]. Bleeding diathesis usually presents during adulthood, mostly after 40 years; around one-third of patients with gastrointestinal bleeding presented with starting symptoms of anemia [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Hereditary Hemorrhagic Telangiectasia: A Case Report

Khan¹,

Waqar²,

Wazir³

et al. 2022

Cureus

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Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a very rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucus membranes (called telangiectasia), and organs such as the lung, liver, and brain. It occurs due to a mutation in one of the ACVRL1 , ENG , and SMAD4 genes, which code for the formation of blood vessels. The most common symptom is recurring nosebleed (epistaxis; due to rupture of nasal mucosal telangiectasia), which begins in childhood and affects about 90-95% of people with HHT. Other common signs and symptoms include punctate, linear, or splinter-like telangiectasias on the upper body, oral mucosa, or nail beds, gastrointestinal bleeding, and iron deficiency anemia. The diagnostic criteria currently in use are the Curaçao criteria. The diagnosis is made by clinical screening (e.g., history and physical exam), baseline investigations (complete blood count, hemoglobin, hematocrit, and ferritin level), genetic testing, and detailed medical imaging to detect visceral arteriovenous malformations (AVMs) such as esophagogastroduodenoscopy, colonoscopy, multiphase contrast CT, computed tomography angiography (CTA or CT Angio), magnetic resonance angiography (MRA), chest X-ray, Doppler ultrasonography, liver biopsy, and cerebral angiography. Management includes intravenous iron therapy or blood transfusion, antifibrinolytics (e.g tranexamic acid), ablation therapies (e.g. laser treatment, radiofrequency ablation, electrosurgery, sclerotherapy, and argon plasma coagulation), and systemic anti-angiogenic agents (e.g. thalidomide, bevacizumab). In this report, we present the case of a 22-year-old man from Swabi, Pakistan, with a history of recurrent epistaxis (nosebleed) from childhood, who presented with multiple episodes of melena (blood in stool), fatigue, palpitation, and iron deficiency anemia for five years. Multiple esophagogastroduodenoscopies (OGDs) and colonoscopies were done over the years, which showed AVM in the antrum and fundus of the stomach, duodenum, and colon, and a diagnosis of HHT was made. CTA and exploratory laparotomy showed ileal loop hemangiomas. He was managed with multiple blood transfusions, argon plasma coagulation (APC) for the AVMs, oral thalidomide, and steroids. Despite therapy, the patient had intermittent episodes of blood in stool and low blood counts. During his stay in Hayatabad Medical Complex (HMC), the patient was managed with high-frequency blood transfusion and bevacizumab (systemic anti-angiogenic agent). A dramatic reduction in the number of required transfusions and improvement in the patient's bloodlines and symptoms was noted. This case highlights the importance of endoscopic methods for the timely diagnosis of HHT and its management with intravenous bevacizumab.

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“…Пациенты с мутацией SMAD4 имеют типич ную клиническую картину НГТ, а также симптомы ювенильного полипоза [16,17].…”

Section: этиология и классификацияunclassified

Hereditary hemorrhagic teleangiectasia: the topical problems of diagnostics and surgical treatment

Baydarova¹,

Тупикин²,

Andreytseva³

2016

Dok. gastroenterol.

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Combined Juvenile Polyposis and Hereditary Hemorrhagic Telangiectasia

Cited by 11 publications

References 20 publications

Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective

Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist’s perspective

A Rare Case of Hereditary Hemorrhagic Telangiectasia: A Case Report

Hereditary hemorrhagic teleangiectasia: the topical problems of diagnostics and surgical treatment

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