Enteroscopic evaluation of the gastrointestinal tract in symptomatic patients with hereditary hemorrhagic telangiectasia.
ABSTRACT Hereditary hemorrhagic telangiectasia is an autosomal dominant disease in which 25% to 30% of patients will develop gastrointestinal bleeding from telangiectases. The extent of telangiectases has not been previously evaluated. This cross-sectional study compared the presence, number, and size of telangiectases in the stomach and duodenum to those in the jejunum using enteroscopy.
At the Yale University Vascular Malformation Center, 30 consecutive, symptomatic adult patients with hereditary hemorrhagic telangiectasia were evaluated using a 220-cm-length enteroscope. The number and size of the telangiectases were documented in the esophagus, proximal and distal stomach, four parts of the duodenum, and every 20 cm in the jejunum. The indication for the procedure was recorded as anemia, gastrointestinal bleeding, or anemia out of proportion to epistaxis.
The results of 27 patients were analyzed. A total of 89% of patients had telangiectases in the first 60 cm of the jejunum. In individual patients, there was a strong correlation between the number of telangiectases in the stomach/duodenum when compared with the jejunum. In group analysis, the median number of telangiectases in the stomach and duodenum was significantly higher than in the jejunum (13 vs. 3; Wilcoxon signed rank test, P = 0.001). The presence of large (> or =5 mm) telangiectases in the stomach/duodenum did not necessarily indicate that there would be large telangiectases in the jejunum.
The presence and number of stomach and duodenal telangiectases correlated with the presence and number of jejunal ones. However, the occurrence of large proximal telangiectases was not associated with large distal ones.
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ABSTRACT: Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is a disorder of development of the vasculature characterized by telangiectases and arteriovenous malformations in specific locations. It is one of most common monogenic disorders, but affected individuals are frequently not diagnosed. The most common features of the disorder, nosebleeds, and telangiectases on the lips, hands, and oral mucosa are often quite subtle. Optimal management requires an understanding of the specific presentations of these vascular malformations, especially their locations and timing during life. Telangiectases in the nasal and gastrointestinal mucosa and brain arteriovenous malformations generally present with hemorrhage. However, complications of arteriovenous malformations in the lungs and liver are generally the consequence of blood shunting through these abnormal blood vessels, which lack a capillary bed and thus result in a direct artery-to-vein connection. Mutations in at least five genes are thought to result in hereditary hemorrhagic telangiectasia, but mutations in two genes (ENG and ACVRL1/ALK1) cause approximately 85% of cases. The frequency of arteriovenous malformations in particular organs and the occurrence of certain rare symptoms are dependent on the gene involved. Molecular genetic testing is used to establish the genetic subtype of hereditary hemorrhagic telangiectasia in a clinically affected individual and family, and for early diagnosis to allow for appropriate screening and preventive treatment.Genetics in medicine: official journal of the American College of Medical Genetics 05/2011; 13(7):607-16. DOI:10.1097/GIM.0b013e3182136d32 · 6.44 Impact Factor
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ABSTRACT: The gastrointestinal (GI) and cutaneous organ systems are closely linked. In part I of this continuing medical education article, the intricacies of this relationship were explored as they pertained to hereditary polyposis disorders, hamartomatous disorders, and paraneoplastic disease. Part II focuses on the cutaneous system's links to inflammatory bowel disease and vascular disorders. An in-depth analysis of inflammatory bowel disease skin findings is provided to aid dermatologists in recognizing and facilitating early consultation and intervention by gastroenterologists. Cutaneous signs of inflammatory bowel disease include fissures and fistulae, erythema nodosum, pyoderma gangrenosum, pyostomatitis vegetans, oral aphthous ulcers, cutaneous polyarteritis nodosa, necrotizing vasculitis, and epidermolysis bullosa acquisita. Additional immune-mediated conditions, such as diverticulitis, bowel-associated dermatosis-arthritis syndrome, Henoch-Schönlein purpura, dermatitis herpetiformis, and Degos disease, in which the skin and GI system are mutually involved, will also be discussed. Genodermatoses common to both the GI tract and the skin include Hermansky-Pudlak syndrome, pseudoxanthoma elasticum, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia, and blue rubber bleb nevus syndrome. Kaposi sarcoma is a neoplastic disease with lesions involving both the skin and the gastrointestinal tract. Acrodermatitis enteropathica, a condition of zinc deficiency, likewise affects both the GI and dermatologic systems. These conditions are reviewed with updates on the genetic basis, diagnostic and screening modalities, and therapeutic options. Finally, GI complications associated with vascular disorders will also be discussed.Journal of the American Academy of Dermatology 02/2013; 68(2):211.e1-211.e33. DOI:10.1016/j.jaad.2012.10.036 · 5.00 Impact Factor
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ABSTRACT: Purpose:Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular dysplasia characterized by telangiectases and arteriovenous malformations. Three causative genes are known: ENG (HHT-1), ACVRL1 (HHT-2), and SMAD4 (mutated in HHT in association with juvenile polyposis). Gastrointestinal bleeding is the most common symptom after epistaxis. The stomach and the duodenum are the main gastrointestinal sites of telangiectases. Our aim was to explore gastrointestinal tract of consecutive HHT patients to assess distribution, number, size, and type of telangiectases in relation to genotype.Methods:HHT patients underwent gastroduodenoscopy, video capsule endoscopy, and colonoscopy. Molecular analysis of ENG and ACVRL1 was performed to identify the disease-causing mutation.Results:Twenty-two patients (13 men; mean age: 59 ± 9 years) were analyzed: 7 with HHT-1, 13 with HHT-2, and 2 undefined. Gastrointestinal telangiectases were identified as follows: at gastroduodenoscopy in 86% of HHT-1 patients and in 77% of HHT-2 patients, at video capsule endoscopy in all HHT-1 patients and in 84% of HHT-2 patients, and at colonoscopy in 1 patient for each group. HHT-1 showed multiple telangiectases with a higher prevalence, more relevant in the duodenum.Conclusion:Our data demonstrate extensive involvement of the gastrointestinal tract with a more severe association in HHT-1. Gastroduodenoscopy provides significant information on gastrointestinal involvement, and video capsule endoscopy may be added in selected patients. Colonic polyps/adenomas were identified as occasional findings.Genet Med advance online publication 30 May 2013Genetics in Medicine (2013); doi:10.1038/gim.2013.62.Genetics in medicine: official journal of the American College of Medical Genetics 05/2013; DOI:10.1038/gim.2013.62 · 6.44 Impact Factor