European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)

Abstract

Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia that leads to nosebleeds, anaemia due to blood loss, and arteriovenous malformations (AVMs) in organs such as the lungs, liver and brain. HHT is estimated to affect 85,000 European citizens, but most health care providers have limited prior HHT exposure or training.Outcome Measures were developed and implemented by the HHT Working Group of the European Reference Network for Rare Vascular Diseases (VASCERN), in order to maximise the number of patients receiving good care. The measures specifically target areas where optimal management reduces morbidity and mortality in HHT patients, and were designed to be robust to emerging new evidence. Thresholds are the percentage of patients in particular settings who have been recommended screening, or provided with written advice. The 5 Outcome Measures cover (1) pulmonary AVM screening; (2) written nosebleed advice, (3) assessment of iron deficiency; (4) antibiotic prophylaxis prior to dental and surgical procedures for patients with pulmonary AVMs, and (5) written advice on pregnancy. They are not a blueprint for detailed HHT management, but are suitable for all clinicians to be aware of and implement.In summary, these 5 Outcome Measures provide metrics to identify healthcare providers of good care, and encourage care improvement by all healthcare providers.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0850-2) contains supplementary material, which is available to authorized users.

Gastrointestinal Bleeding in Patients with Hereditary Hemorrhagic Telangiectasia: Risk Factors and Endoscopic Findings

“…All patients provided oral consent for participation in the study in accordance with local Ethic Committee requirements. Patients with a definite diagnosis according to the Curaçao criteria (meeting ≥ 3 criteria) or a positive genetic study were included [4][5][6]. We followed the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement guidelines for observational cohort studies [23].…”

“…Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber syndrome (ORPHA774) is an autosomal dominant rare vascular disease characterized by telangiectases and larger vascular malformations (VMs) [1][2][3]. HHT can be diagnosed either clinically using the Curaçao criteria (recurrent epistaxis, muco-cutaneous telangiectasia, visceral lesions, and family history) or through a molecular gene test [4][5][6]. Mutations in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in approximately 90% of cases submitted to molecular diagnosis for clinical suspicion of HHT and cause HHT1 and HHT2, respectively [2,[7][8][9].…”

Pathologically Complete Response after Triple Therapy in Locally Advanced Esophageal Cancer in a Hereditary Hemorrhagic Telangiectasia Patient

“…Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder with an autosomal dominant inheritance and variable penetrance characterized by structural abnormalities of the vasculature, resulting in mucocutaneous telangiectasias and arteriovenous malformations (AVMs) that may involve various organs including the brain, lungs, and the gastrointestinal (GI) tract [1][2][3][4]. Prevalence of HHT as suggested by epidemiological studies ranges from 1:5,000 to 1:8,000 [5][6][7][8][9][10]. The Curaçao Criteria have been developed to guide the diagnosis of HHT.…”

“…Three out of four criteria define "definite," two out of four "suspected," and one out of four "unlikely." Although not necessary, genetic testing may confirm the diagnosis by identifying pathogenic sequence variants in the genes linked to HHT, namely ENG, ACVRL1, or SMAD4 [10,11].…”

Prevention of serious infections in hereditary hemorrhagic telangiectasia: roles for prophylactic antibiotics, the pulmonary capillaries-but not vaccination

“…HHT is caused by pathogenic variants in ENG, ACVRL1, and SMAD4, and usually results in vascular abnormalities (telangiectasia, arteriovenous malformations (AVMs)), recurrent bleeds, and anemia. 3 A subgroup of HHT patients develop occasional deep-seated infections including brain abscesses. [4][5][6] HHT members of the European Reference Network for Rare Vascular Diseases (VASCERN) have contributed strongly to published primary data, including recent manuscripts detailing clinical and microbiological features of 65 4 and 27 5 consecutive brain abscess cases.…”