Case Of Hereditary Hemorrhagic Telangiectasia Research Articles

A case of hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are all due to abnormalities of the vascular structure. This report deals with the case of a 14-year-old girl with typical features of HHT that include recurrent epistaxis, mucocutanous telangiectases, pulmonary and cerebral AVMs and a familial occurrence.

Osler-Weber-Rendu syndrome

The attached image ([Fig. 1][1]) is intended to complement the pulmonary radiography and CT imaging that accompany the report of a case of hereditary hemorrhagic telangiectasia described by Narinder Pal Singh and colleagues.[1][2] It is this observer's experience that telangiectasia have a

Hereditary Haemorrhagic Telangiectasia Cerebrospinal Localization in Adults and Children

Cerebral arteriovenous malformations (CAVM) can be associated with Hereditary Haemorrhagic Telangiectasia (HHT), a dominantly inherited vascular disorder with variable penetrance and expressivity. The presentation and angiographic features were analysed retrospectively. The purpose is to point to special groups of AVM patients within the overall CAVMs and to discuss the issue of screening. We reviewed 34 cases of HHT-related CAVM from the data bank in Bicêtre from 1985-2003. In Spinal cord AVM (SCAVM) there were 194 patients with 5 HHT. HHT was diagnosed when at least two criteria were met; cutaneous telangiectasia, epistaxis, visceral AVMs, angiographic findings of AVF and first degree family history. Intracranial haemorrhage was the presenting symptom in 8.8% and the risk of haemorrhage in the natural history was 0.7% per year. The commonest angiographic features in adults are nidus(81.8%) and multiplicity(45.5%), while in the paediatric group venous ectasia and giant pouches(91.3%), AVF(69.6%) and multiplicity( 52.2%). In spinal cord lesions macrofistulas are demonstrated in 83% of HHT with no multiplicity. HHT-related CAVMs present as multiple lesions, cortical in location, micro AVMs or AVF. HHT in SCAVM is expressed as single macro AVF, especially in the paediatric group. AVF in children are highly suggestive of HHT. We do not recommend screening in HHT adult patients for CAVM, while in the paediatric population, screening could be recommended at six months of age for cerebrospinal localization. These patients should be screened for Pulmonary AVF, which needs to be treated in priority.

A Case of Hereditary Hemorrhagic Telangiectasia Combined with Pulmonary- Systemic Fistula

We report the first case of hereditary hemorrhagic telangiectasia combined with multiple pulmonary-systemic fistulae. In this case, a 39-year-old woman presented with long standing chest pain, dyspnea and hemoptysis. Finally she was diagnosed as systemicpulmonary fistula, a rare form of hereditary hemorrhagic telangiectasia. (Korean Circulation J 2003;33(2):139-142)

Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia.

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. 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. 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. 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. By comparison, pulmonary arteriovenous fistulae are a much more frequent cause of neurological symptoms in this population.

Portal vein aneurysm in hereditary hemorrhagic telangiectasia

Both hereditary hemorrhagic telangiectasia (HHT) and portal vein aneurysm are rare disorders. We described the first documented case of HHT associated with portal vein aneurysm. As the portal vein aneurysm in this patient associated with HHT, the pathogenesis in this patient seems to have been a congenital anomaly of the vasculature.

Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients.

Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease characterized by telangiectatic lesions. The disease manifestations are variable and include epistaxis, gastrointestinal bleeding, pulmonary arteriovenous malformations and cerebral arteriovenous malformations. Early death due to these complications has been described. We report a study on the prevalence and mortality of HHT in a Danish population based on two cross-sectional surveys in combination with a long-term follow-up study. Prevalent cases of HHT as of 1 January 1974 in the County of Fyn, Denmark, were identified. In 1995-97 a follow-up study of mortality was performed of the initial patient sample, and a new point prevalence rate of HHT as of 1 January 1995 was calculated. All live patients and their families were invited to attend a detailed clinical examination. The prevalence of HHT in the County of Fyn was 13.8 per 100,000 on 1 January 1974 and 15.6 per 100,000 on 1 January 1995. In the HHT group as a whole, we found a slightly increased mortality; however, amongst the HHT patients younger than 60 years at inclusion the mortality of HHT patients was twice the expected. The excess mortality could be fully explained by severe HHT symptoms. This study suggests that HHT is more prevalent than previously believed. In young patients the disease is associated with an excess mortality which is fully attributable to HHT. Future research should aim at the identification of HHT patients at particular risk of developing severe complications.

Hereditary hemorrhagic telangiectasia causing high output cardiac failure: treatment with transcatheter embolization

We report a case of hereditary hemorrhagic telangiectasia complicated by high output heart failure caused by intrahepatic arteriovenous malformations. This patient was treated using transcatheter embolization of the intrahepatic arteriovenous malformations with concurrent measurement of cardiac output to monitor progress of the embolization.

Hereditary hemorrhagic telangiectasia causing high output cardiac failure: treatment with transcatheter embolization

We report a case of hereditary hemorrhagic telangiectasia complicated by high output heart failure caused by intrahepatic arteriovenous malformations. This patient was treated using transcatheter embolization of the intrahepatic arteriovenous malformations with concurrent measurement of cardiac output to monitor progress of the embolization.

Screening family members of patients with hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disorder which may give rise to arteriovenous malformations in lungs and brain. When left untreated, these may cause serious complications. We screened family members of HHT patients for presence of the disease and associated pulmonary or cerebral arteriovenous malformations. We investigated 98 family members of HHT patients on an outpatient basis. A stepped screening protocol was used based on prevalence of different manifestations of HHT. Thirty-six cases of HHT were found in the 98 persons screened. Pulmonary arteriovenous malformations were found in 12 of the 36 patients (33%), and cerebral arteriovenous malformations in 4 (11%). Therapy was recommended in 9 patients with pulmonary arteriovenous malformations and in 2 with cerebral arteriovenous malformations. Family members of known HHT patients should be encouraged to engage in a screening program, since the prevalence of potentially serious localizations is higher than previously thought.

Hereditary haemorrhagic telangiectasia: Young's procedure in the management of epistaxis

Two cases of hereditary haemorrhagic telangiectasia are presented. Epistaxis was intractable in both patients. Young's procedure proved successful in controlling nose bleeds. One of the patients has been followed-up for 14 years. Methods of treatment are discussed with a review of the literature.

A Case of Hereditary Hemorrhagic Telangiectasia with von Willebrand Disease Associated with Impaired Aggregation of Platelet

A Case of Hereditary Hemorrhagic Telangiectasia with von Willebrand Disease Associated with Impaired Aggregation of Platelet

Two Cases of Hereditary Hemorrhagic Telangiectasia Showing Rapid Improvement of Epistaxsis after Combination Therapy of Estrogen and Progesterone

Two Cases of Hereditary Hemorrhagic Telangiectasia Showing Rapid Improvement of Epistaxsis after Combination Therapy of Estrogen and Progesterone

Hereditary Hemorrhagic Telangiectasia: Presenting as an Unusual Gastric Lesion

A case of hereditary hemorrhagic telangiectasia, occuring in a 61-year-old male, presented as an ulcerating antral mass lesion and hepatosplenomegaly. The antral mass was demonstrated to be composed of a proliferation of blood vessels and is an unusual presentation for hereditary hemorrhagic telangiectasia of the gastrointestinal tract.

Hereditary Hemorrhagic Telangiectasia Presenting With Portal Hypertension and Cirrhosis of the Liver: A case report

This is the 6th case of hereditary hemorrhagic telangiectasia associated with hepatic cirrhosis in which sufficient evidence was available to exclude reasonably known causes of chronic liver disease. Consequently it may be that the development of cirrhosis was a direct result of hereditary hemorrhagic telangiectasia. In support of this view, it was noted that not only was there very extensive involvement of the liver by telangiectatic malformations, but that, in addition, these malformations were found within the fibrous septa in the liver. It is suggested that the cirrhosis in hereditary hemorrhagic telangiectasia may be the result of extensive involvement of the liver by telangiectases although no definite cause and effect conclusions can be reached.

Hereditary hemorrhagic telangiectasia

Two cases of hereditary hemorrhagic telangiectasia in Negro patients have been reported. Both cases could be considered classic with respect to the oral lesions and familial history. Although numerous oral lesions and chronic epistaxis were present, severe, persistent anemia was the primary problem to be dealt with in both cases.

Oral manifestations of hereditary hemorrhagic telangiectasia: Report of a case

A case of hereditary hemorrhagic telangiectasia has been presented. With the exception of the nasal mucosa, the oral mucosa is the most commonly reported site of occurrence.

Oral manifestations of hereditary hemorrhagic telangiectasia

A case of hereditary hemorrhagic telangiectasia in a Negro has been presented. In the medical literature there have been only three reports of the discase occurring in Negroes; no reports involving Negroes have appeared in the dental literature. In the case described here the etiology of severe hemorrhaging with resultant refractory anemia was not known for some forty years, until the observation of oral lesions led to the diagnosis. A review of the literature is presented.

Vascular lesion of hereditary hemorrhagic telangiectasia.

THE present report of a classic case of hereditary hemorrhagic telangiectasia (Rendu–Osler–Weber disease) is presented because it supplies histologic data relevant to the basic vascular defect. The autopsy findings emphasize the diversity of tissues that display the vascular involvement, and may explain the severe cardiopulmonary symptoms suffered by the patient.Case ReportJ.R.J., a 68-year-old man, was hospitalized for the 9th time after an acute illness of 2 weeks' duration. The referring diagnosis was a ruptured abdominal viscus. The genetic background has been reported elsewhere.1 Since that report he is the 2nd member of generation II who has died. His . . .

GENERALIZED ANGIOMATOSIS (TELANGIECTASIA)

Generalized telangiectasia may be an important sign of constitutional disease, or the small lesions may be only blemishes of cosmetic importance. During the past year a number of cases of generalized angiomatosis were referred to the dermatologic division for an opinion, and the information gained from the investigation of these cases has served as the basis for this report. The cases of hereditary hemorrhagic telangiectasia are by far the more important because of a higher percentage of fatal terminations. The condition may be defined as a hereditary disease of the small blood vessels characterized by the formation of multiple, permanent, localized dilatations of the capillaries and venules, which may give rise to apparently spontaneous and often recurrent hemorrhages. The telangiectasia has been most frequently noted in the skin of the face and in the mucosa of the mouth and nose. The hemorrhages occur most commonly in the form of recurrent