[Hereditary hemorrhagic telangiectasia (Rendu-Osler syndrome)]. / Nasledstvennaya gemorragicheskaya teleangiektaziya (sindrom Randyu­Oslera).

The analysis of publications is carried out and current data concerning the etiology, pathogenesis, diagnosis, and principles of treatment of hereditary hemorrhagic telangiectasia are presented.

Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT.

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) disease is a rare genetic disorder with symptoms and complications that can significantly affect patients' daily lives. To date, no scale has been validated to assess the specific symptoms of this disease on the quality of life (QOL) of HHT patients. This makes it difficult for clinicians to accurately measure the quality of life of patients with HHT. The present study aims to develop and validate a QOL measurement tool specific to HHT disease: the QOL questionnaire in HHT (QoL-HHT). METHODS: A quantitative, non-interventional, multi-center study involving HHT patients in twenty French HHT expert centers was conducted. A calibration sample of 415 HHT patients and a validation sample of 228 HHT patients voluntarily participated in the study. Data were analyzed using exploratory factor analysis (EFA), confirmatory factor analysis (CFA), Exploratory Structural Equation Modeling (ESEM) analyses, reliability analyses, and correlational analyses. RESULTS: The EFA, CFA and ESEM results allowed us to provide evidence of the factorial structure of a questionnaire composed of 24 items measuring 6 domains of QOL: Physical limitations, social relationships, concern about bleeding, relationship with the medical profession, experience of symptoms, and concern about the evolution of the disease. Cronbach's alpha coefficients (> 0.70) demonstrated reliable internal consistency of all the QoL-HHT scores (dimensions). The results of the test-retest provided further evidence of the reliability of the QOL-HHT scores over time. Correlational analyses provided evidence for the convergent validity of the QoL-HHT scores. CONCLUSIONS: We developed a simple and quick self-assessment tool to measure quality of life specific to HHT disease. This study demonstrated reliability and validity of our QoL-HHT scores. It is a very promising tool to evaluate the impact of HHT disease on all aspects of the quality of life of HHT patients in order to offer them individualized medico-psycho-social support. TRIAL REGISTRATION: ClinicalTrials, NCT03695874. Registered 04 October 2018, https://www. CLINICALTRIALS: gov/ct2/show/NCT03695874.

Management of Gastrointestinal Bleeding in Rendu-Osler Disease.

BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT, or Rendu-Osler-Weber disease) is a rare inherited syndrome, characterized by artero-venous malformations (AVMs or telangiectasia) with autosomal dominant transmission. AVMs can occur in any organ of the body but most commonly it occurs in the nose, pulmonary, hepatic and cerebral circulations. In patients with HHT, we report teleangectasia of mucosa of the gastrointestinal tract. METHODS: Research and online content related to HHT online activity is reviewed, and DOC writing excerpts are used to illustrate key themes. RESULTS: Patients with HHT have a high rate of complications related to bleeding; of them gastrointestinal bleeding accounts for 10.8%. Several therapies, both medical and endoscopic, were utilized to reduce the need for transfusions and hospitalization. CONCLUSION: A combination of medical and endoscopic therapy is probably the best option.

Comparison between Doppler ultrasonography and multiphase multidetector-row computed tomography in the detection of liver involvement in Rendu-Osler disease: An analysis of 62 patients.

PURPOSE: To evaluate the agreement between the Buscarini criteria on ultrasound (US) and multiphase contrast-enhanced multidetector-row computed tomography (MDCT) in the diagnosis and staging of liver involvement in hereditary hemorrhagic telangiectasia (HHT) (i.e., Rendu-Osler disease). To evaluate the role of variations in hepatic artery anatomy in the production of disagreement between these two imaging techniques. MATERIALS AND METHODS: This single center retrospective study included 62 patients with confirmed or suspected HHT. Each patient underwent Doppler US analyzed according to the Buscarini criteria and arterial and portal phase MDCT on the same day or one day apart. Liver involvement was classified as absent, slight, moderate or severe for each examination. Agreement was evaluated by the kappa and Bhapkar tests. Variations in hepatic arterial anatomy was analyzed by MDCT based on the Michel's classification and analysis of agreement and disagreement was performed using the Chi(2) test. RESULTS: Significant disagreement was identified between the two tests in 29 patients with κ=0.376 and a Bhapkar critical probability of P=0.0053. Staging of liver involvement was significantly more severe with MDCT in case of disagreement. A variant hepatic artery anatomy was identified in 12 patients with agreement and 7 patients with disagreement, but the difference was not significant (Chi(2)=0.297). CONCLUSION: The results of our study confirm the importance of associating contrast-enhanced MDCT with Doppler US in the evaluation of liver involvement in patients with HHT.

Diagnosis and treatment of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: An overview.

Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is an autosomic dominant disorder, which is characterized by the development of multiple arteriovenous malformations in either the skin, mucous membranes, and/or visceral organs. Pulmonary arteriovenous malformations (PAVMs) may either rupture, and lead to life-threatening hemoptysis/hemothorax or be responsible for a right-to-left shunting leading to paradoxical embolism, causing stroke or cerebral abscess. PAVMs patients should systematically be screened as the spontaneous complication rate is high, by reaching almost 50%. Neurological complications rate is considerably higher in patients presenting with diffuse pulmonary involvement. PAVM diagnosis is mainly based upon transthoracic contrast echocardiography and CT scanner examination. The latter also allows the planification of treatments to adopt, which consists of percutaneous embolization, having replaced surgery in most of the cases. The anchor technique consists of percutaneous coil embolization of the afferent pulmonary arteries of the PAVM, by firstly placing a coil into a small afferent arterial branch closely upstream the PAVM. Enhanced contrast CT scanner is the key follow-up examination that depicts the PAVM enlargement, indicating the various mechanisms of PAVM reperfusion. When performed by experienced operators as the prime treatment, percutaneous embolization of PAVMs, is a safe, efficient and sustained therapy in the great majority of HHT patients.