International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

  title={International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia},
  author={Marie E. Faughnan and Valerie A. Palda and Guadalupe Garcia‐Tsao and U W Geisthoff and Jamie McDonald and Deborah D. Proctor and J. Spears and D. H. Brown and Elisabetta Buscarini and Mark S. Chesnutt and Vincent Cottin and Arupa Ganguly and James R. Gossage and Alan Guttmacher and Robert H. Hyland and Shelley J. Kennedy and Joshua Korzenik and Johannes Jurgen Mager and A. Ozanne and Jay F. Piccirillo and Daniel Picus and Henry Plauchu and Mary E.M. Porteous and Reed E. Pyeritz and Douglas A. Ross and Carlo Sabb{\`a} and Karen L. Swanson and Peter Terry and Marcus Wallace and Cees J J Westermann and R. I. White and Lawrence H. Young and Roberto Zarrabeitia},
  journal={Journal of Medical Genetics},
  pages={73 - 87}
BACKGROUND HHT is an autosomal dominant disease with an estimated prevalence of at least 1/5000 which can frequently be complicated by the presence of clinically significant arteriovenous malformations in the brain, lung, gastrointestinal tract and liver. [] Key Method The Guidelines Working Group included experts (clinical and genetic) from eleven countries, in all aspects of HHT, guidelines methodologists, health care workers, health care administrators, HHT clinic staff, medical trainees, patient advocacy…

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia

The expert panel generated and approved 6 new recommendations that highlight new evidence in existing topics from the first International HHT Guidelines and provide guidance in 3 new areas: anemia, pediatrics, and pregnancy and delivery.

Systematic screening in hereditary hemorrhagic telangiectasia: a review

An overview of the evidence and a recommendation for clinicians concerning screening for HHT are given to prevent severe complications including stroke, brain abscess and intracranial hemorrhage.

Cerebral screening in patients with hereditary haemorrhagic telangiectasia

In this retrospective audit, 52 patients who had a definite diagnosis of hereditary haemorrhagic telangiectasia (HHT) as per Curacao criteria were identified, and 21 of these patients had a genetic diagnosis.

Hereditary Hemorrhagic Telangiectasia: Update on Screening, Diagnosis, and Management

The purpose of this review is to go over the diagnosis of HHT, prevention of disease-related complications, and treatment of symptomatic disease.

A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study

A systematic inquiry of diagnostic delay in HHT is reported, showing that patients receive a definite diagnosis only after nearly three decades from disease onset, and significantly longer in index patients (first patients who attained definite HHT diagnosis in a given family) than in non-index patients (relative of index patients).

Diagnosis and Treatment of Hereditary Hemorrhagic Telangiectasia.

Interventional treatments in life-threatening and/or severe circumstances will continue to be used because of their effectiveness, and appropriate management of acute epistaxis coupled with early diagnosis and referral to an ear, nose, and throat specialist should be the mainstay of treatment.

Assessing the Hereditary Hemorrhagic Telangiectasia Algorithms in a Community-Based Patient Population.

Employing the HHTAs in this community-based population resulted in a modest yield of patients with possible HHT, and further research is required to assess the utility of the H HTAs in identifying patients with actual HHT.

Diagnosis and treatment of patients with hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) at a university hospital in Colombia

The clinical expression of THH varies, but in this study gastrointestinal manifestations were the most frequent causes of hospital admission and patients frequently required transfusion of blood products and patients required multiple studies to identify the extent of the disease, and solid organ compromise.

Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria?

The Curaçao clinical criteria for hereditary hemorrhagic telangiectasia have a good diagnostic performance and genetic testing is particularly helpful in patients with a “possible” clinical diagnosis HHT.



Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

A diagnosis of HHT cannot be established in patients with only two criteria, but should be recorded as possible or suspected to maintain a high index of clinical suspicion and to be considered at risk in view of age-related penetration in this disorder.

Neurovascular phenotypes in hereditary haemorrhagic telangiectasia patients according to age

The purpose of this study was to compare the phenotypes of CNS-manifestations of HHT with the age of the patient, and found there seems to be no relationship between the type of mutation and the phenotype of the disease.

Symptomatic children with hereditary hemorrhagic telangiectasia: a pediatric center experience.

Visceral AVMs and mucosal telangiectases are present in children with HHT and can lead to life-threatening events and failure to identify a disease-associated mutation for each child suggests complex mutations or novel HHT genes.

Diagnosis and Management of Gastrointestinal Bleeding in Patients With Hereditary Hemorrhagic Telangiectasia

Some HHT patients with GI bleeding improve on drug therapies, but others fail, and optimal management may include both medical and endoscopic treatments.

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

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 suggested autosomal dominant inheritance.

[Hereditary hemorrhagic telangiectasia. A population-based study on prevalence and mortality among Danish HHT patients].

An investigation of 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 finds a slightly increased mortality, however among the HHT patients younger than 60 years at inclusion the mortality was twice the expected.

Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia.

Patients with HHT have a high risk of harboring a CVM, especially in the presence of a pulmonary AVM, and have a lower risk of bleeding than that associated with sporadic AVMs.

Medical complications of pregnancy in hereditary haemorrhagic telangiectasia.

The data support a hypothesis of hormonal modification of the HHT phenotype, and a significant excess of affected offspring are present in HHT families, and implications for patient management are discussed.

Sonographic findings in hepatic involvement of hereditary haemorrhagic telangiectasia.

D diagnosis of liver involvement in HHT can be made by sonography with colour-Doppler, and the main features of this involvement include prominent common hepatic artery, dilatation of the intrahepatic part of the hepatic arteries and intra hepatic AV-shunts.