Gastrointestinal Lesions in Hereditary Hemorrhagic Telangiectasia

Vase, P.; Grove, O

doi:10.1016/s0016-5085(86)80001-4

Cited by 146 publications

(53 citation statements)

References 11 publications

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“…These lesions may cause severe bleeding usually after the fifth or sixth decade of life and lead to significant anemia requiring blood transfusions. [15][16][17][18] GI telangiectases frequently pose difficult problems in diagnosis and treatment, and EGd and CS are the most commonly used diagnostic tools. The lesions in the small intestine, however, are inaccessible to conventional methods, and until a few years ago, they were identified only by invasive practices such as push enteroscopy and more recently double-balloon enteroscopy.…”

Section: Other Clinical Manifestationsmentioning

confidence: 99%

“…It can cause significant morbidity, resulting in severe anemia and high blood transfusion requirements. [15][16][17][18] Although the stomach and the duodenum have been reported to be the main GI sites of telangiectases, 2,17 data concerning the involvement of the small intestine in HHT are sparse, mainly because exploration of the entire GI tract has been difficult up to now. Before our study, few papers evaluated small-bowel telangiectases in HHT patients with video capsule endoscopy (VCE), detecting telangiectases evenly distributed throughout the small bowel in 56-86% of HHT patients.…”

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confidence: 99%

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Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes

Canzonieri

Centenara

Ornati

et al. 2014

Genetics in Medicine

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Section: Other Clinical Manifestationsmentioning

confidence: 99%

mentioning

confidence: 99%

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes

Canzonieri

Centenara

Ornati

et al. 2014

Genetics in Medicine

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“…8,9 Epistaxis is the most common presentation, followed by gastrointestinal bleeding. 10,11 Pulmonary arteriovenous fistulae (AVFs) are often accompanied by dyspnea or hemoptysis and, less frequently, ischemic neurological symptoms. [12][13][14] Telangiectasias are frequently noted on the skin and mucous membranes, often not appearing until the second or third decade.…”

mentioning

confidence: 99%

Cerebrovascular Manifestations in 321 Cases of Hereditary Hemorrhagic Telangiectasia

Maher¹,

Piepgras²,

Brown³

et al. 2001

Stroke

218

104

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Background and Purpose-Patients with hereditary hemorrhagic telangiectasia (HHT) are at risk for developing cerebral vascular malformations and pulmonary arteriovenous fistulae. We assessed the risk of neurological dysfunction from these malformations and fistulae. Methods-Three hundred twenty-one consecutive patients with HHT seen at a single institution over a 20-year period were studied. Any evidence of prior neurological symptoms or presence of an intracranial vascular malformation was recorded. All cases of possible cerebral arteriovenous malformation were confirmed by conventional arteriography. Results-Twelve patients (3.7%) had a history of cerebral vascular malformations. Ten patients had arteriovenous malformations, 1 had a dural arteriovenous fistula, and 1 had a cavernous malformation. Seven patients (2.1%) presented with intracranial hemorrhage, 2 presented with seizures alone, and 3 were discovered incidentally. The average age at the time of symptomatic intracranial hemorrhage was 25.4 years. All patients with a history of intracranial hemorrhage were classified as Rankin grade I or II at a mean follow-up interval of 6.0 years. A history of cerebral infarction or transient ischemic attack was found in 29.6% of patients with HHT and a pulmonary arteriovenous fistula. Conclusions-The risk of intracranial hemorrhage is low among people with HHT. Furthermore, a majority of these patients have a good functional outcome after hemorrhage. The data do not suggest a compelling indication for routine screening of patients with HHT for asymptomatic cerebral vascular malformations. 1 The estimated prevalence is 1 or 2 cases per 100 000. 1,2 Chromosomes 9q and 12q have been implicated in the inheritance of this disease. 3-7 A family history of HHT, although not required to make the diagnosis, is almost universally present. The vascular malformations of HHT may occur in multiple organs, including the lung, liver, kidney, and brain. 8,9 Epistaxis is the most common presentation, followed by gastrointestinal bleeding. 10,11 Pulmonary arteriovenous fistulae (AVFs) are often accompanied by dyspnea or hemoptysis and, less frequently, ischemic neurological symptoms. [12][13][14] Telangiectasias are frequently noted on the skin and mucous membranes, often not appearing until the second or third decade. 8,9 Brown et al 15,16 have reported that the detection rate of intracranial vascular malformations in a population-based study in the most recent time period was 2.75 per 100 000 person-years. The prevalence of intracranial hemorrhage from a vascular malformation was 7.50 per 100 000 people in the population at large. 15,16 Patients with HHT are thought to be at increased risk for harboring cerebral vascular malformations compared with the entire population. Arteriovenous malformations (AVMs), cavernous malformations, dural arteriovenous fistulae, and aneurysms have all been reported in these patients ( Figure 1). 14,17-24 Vascular malformations are found throughout the central nervous system, including the spinal cor...

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“…Gastrointestinal (GI) bleeding from intestinal telangiectatic lesions usually does not start before the fifth decade and may cause severe anemia (5). GI bleeding is possible, generally in the form of chronic stillicidium, due to telangiectases in the esophageal gastric and intestinal mucosa (6). The most common site of AVM is the lung.…”

Section: Hht Clinical Signsmentioning

confidence: 99%

Hereditary Hemorrhagic Telangiectasia (HHT) in Dentistry: A Literature Review

et al. 2006

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Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal-dominantly-inherited vascular dysplasia characterized by age-dependant incomplete penetrance and variable expressivity, with clinical manifestations consisting in epistaxis, mucocutaneous telangiectases, gastrointestinal bleeding and arteriovenous malformations (AVMs), which affects approximately Yz million people world-wide. It affects males and females of all racial and ethnic groups. Up to Ih of HHT patients have multiple organ involvement, which can be disabling and/or life threatening. HHT can be treated successfully if correctly diagnosed. Morbidity of HHT is often due to complications of AVMs, such as stroke or haemorrhage, also known to occur in children. Many authors have reported successful new therapeutical options for AVMs, which have resulted in a significant decrease of life-threatening complications and HHT morbidity. Since early diagnosis permits an appropriate care of affected subjects, a very sensitive mutation screening technique is required to identify the mutation carriers among all at-risk individuals belonging to HHT-families. There may be one or more genes that cause HHT but, if so, they are quite rare. Currently, scientists are trying to better understand exactly how the abnormal gene can interfere with normal blood vessel formation and promote the phenotype of HHT, so that better treatments for the symptoms of HHT can be developed.Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an autosomal-dominant disorder in which abnormal communications between arteries and veins, the so-called teleangiectases, occur in skin, mucosal surfaces and solid organs. Telangiectases often "break" and bleed after slight trauma. Spontaneous and recurrent epistaxis is the most common symptom. It begins by the age of 10 years and tends to be increasingly frequent as the time goes by.It may compromise/damage the patient's quality of life and cause anemia, requiring oral iron supplementation or blood transfusions. Moreover, affected patients can suffer from chronic blood loss, hypoxemia, hepatic dysfunction and high-output cardiac failure. HHT is an uncommon disease with a prevalence of 1:8000 (1), even if it is probably underdiagnosed in affected individuals because of

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Gastrointestinal Lesions in Hereditary Hemorrhagic Telangiectasia

Cited by 146 publications

References 11 publications

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes

Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes

Cerebrovascular Manifestations in 321 Cases of Hereditary Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia (HHT) in Dentistry: A Literature Review

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