Association Between Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia

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Several distinct mechanisms are responsible for pulmonary hypertension development in hereditary hemorrhagic telangiectasia.
Several distinct mechanisms are responsible for pulmonary hypertension development in hereditary hemorrhagic telangiectasia.

Patients with hereditary hemorrhagic telangiectasia (HHT) may develop pulmonary hypertension (PH) via multiple different mechanisms, according to a study by PLoS ONE.

Researchers identified 110 patients with HHT who were also suspected to have PH through the French National Reference Centre for HHT database. Of the 110 identified patients, only 47 underwent right heart catheterization resulting in 38 (81%) patients with a confirmed diagnosis of PH. Data were collected and retrospectively analyzed to identify and describe different types of PH in HHT, identify predisposing factors for PH, compare survival probability, and describe the phenotypic and genotypic characteristics of HHT.


A control population of 326 patients was selected from the same database without echocardiographic suspicion of PH and included in the study to evaluate survival and risk factors.

Two subgroups of PH were identified in study participants: pulmonary arterial hypertension (PAH; group 1) and postcapillary PH (group 2). Precapillary PAH with slightly raised pulmonary vascular resistances (n=3) and combined post- and precapillary PH (n=4) were 2 hemodynamic profiles identified in this study. Study results showed survival probability was lower in patients with PAH compared with controls (P = .0009).

The investigators concluded that the overall occurrence of suspected PH in patients with HHT was 4.23%, with a minimum prevalence of confirmed PH of 1.5%. Group 2 PH was more prevalent than group 1, but has several mechanisms that can lead to PH.

Because of the identified lower survival probably in patients with PAH, it is considered essential for clinicians to propose an echocardiographic evaluation in all identified "patients with HHT with unexplained dyspnea, signs of cardiac insufficiency, of PH or significant hepatic vascular involvement, and to confirm the diagnosis if the systolic pulmonary artery ≥40 mm Hg."

It is recommended that echocardiography be performed every 5 years in patients with HHT, and every year for patients with hepatic arteriovenous malformations.

Limitations of this study include the retrospective design and missing data because of a lack of standardized data collection among patients. In addition, changes in practices and testing during the timeframe of the data collected in this study may have occurred.


Revuz S, Decullier E, Ginon, et al. Pulmonary hypertension subtypes associated with hereditary haemorrhagic telangiectasia: haemodynamic profiles and survival probability. PLoS ONE. 2017;12(10):e0184227.

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