Hereditary Haemorrhagic Telangiectasia: A Genetic and Bibliographical Study.

Garland, Hugh; Leeds, M. D.; Anning, S. T.

doi:10.1111/j.1365-2133.1950.tb15665.x

Cited by 62 publications

(12 citation statements)

References 76 publications

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“…However, in the region from which our patients originated, our previous results indicate that we are dealing with a very concentrated geographic center in which diffusion of the gene had been very rapid In an area including 2 million people, the prevalence was 10-20 times higher than elsewhere: in four villages, inhabited by 1,013 people, and which constituted the center of the endemic region, 54 patients were identified [Plauchu et al, 1978;Bideau et al, 1979;Plauchu and Bideau, 19841. Our findings regarding the frequency and natural history of the various manifestations of the disease tended, in general, to corroborate those of others [Garland and Anning, 1950;Smith et al, 1963;Cachin et al, 1976;McCaffrey et al, 19771. This was particularly true for the epistaxis, although its use as a criterion for ascertainment may have contributed to its high frequency.…”

Section: Discussionsupporting

confidence: 93%

Age‐related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population

et al. 1989

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We report the results of a comprehensive and systematic clinical study of 324 patients with hereditary hemorrhagic telangiectasia, selected from a total of 1,270 cases recruited by epidemiological survey. In 94% of the cases, familial occurrence suggested autosomal dominant inheritance; maximum penetrance for at least one manifestation was 97%. Epistaxis was reported by 96% of the patients and, in more than 50%, developed before age 20. Heavy and frequent bleeding occurred mainly in middle-aged patients. Telangiectasia was documented in 74% of cases, half of whom were younger than 30 years. The frequency of involvement of the hands and wrists was 41%, and for the face, 33%. Visceral involvement was present in 25% of patients, with affected lungs and CNS in the young and gastrointestinal tract and liver in older patients. Symptomatic urinary tract involvement was seen in only two/324 patients. Involvement of other internal sites was not observed.

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Section: Discussionsupporting

confidence: 93%

Age‐related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population

et al. 1989

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“…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][4][5][6][7] A family history of HHT, although not required to make the diagnosis, is almost universally present.…”

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confidence: 99%

Cerebrovascular Manifestations in 321 Cases of Hereditary Hemorrhagic Telangiectasia

Maher¹,

Piepgras²,

Brown³

et al. 2001

Stroke

216

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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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“…It has been reported that hereditary hemorrhagic telangiectasia occurs in all races (9), with an estimated frequency of one or two per 100,000 in the United States (10). In contrast, in 68 families, 255 diagnosed cases of this disease have been reported in Japan (ll).…”

Section: Discussionmentioning

confidence: 99%

Hereditary Hemorrhagic Telangiectasia Showing Severe Anemia which was Successfully Treated with Estrogen.

et al. 1995

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Hereditary hemorrhagic telangiectasia (Osier-Weber-Rendu disease) is a bleeding disorder attributed to a vascular developmental abnormality. It is transmitted as an autosomal dominant trait. A 63-year-old female was admitted because of repeated episodes of severe anemia which resulted from bleeding of telangiectases in the gastric mucosa. Conventional therapies including endoscopical microwavecoagulation and ethanol injection were not effective. The persistent anemia necessitated frequent blood transfusion. Estrogen was orally administrated and blood transfusion became unnecessary. Thus, estrogen therapy should be considered as one of the effective treatments for recurrent severe anemia due to hereditary hemorrhagic telangiectasia. (Internal Medicine 34: 589-592, 1995)

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Hereditary Haemorrhagic Telangiectasia: A Genetic and Bibliographical Study.

Cited by 62 publications

References 76 publications

Age‐related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population

Age‐related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population

Cerebrovascular Manifestations in 321 Cases of Hereditary Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia Showing Severe Anemia which was Successfully Treated with Estrogen.

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