Pulmonary hypertension associated with neurofibromatosis type 1

European Respiratory Review : an Official Journal of the European Respiratory Society
Etienne-Marie JutantDavid Montani

Abstract

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a frequent autosomal dominant genetic disorder with a prevalence of 1 in 3000. Pulmonary hypertension (PH) associated with NF1 (PH-NF1) is a rare but severe complication of NF1 and is classified as Group 5 PH, defined as "PH with unclear and/or multifactorial mechanisms". A literature review in PubMed on the association between NF1 and PH identified 18 articles describing 31 cases. PH-NF1 was characterised by a female predominance, an advanced age at diagnosis, an association with parenchymal lung disease in two out of three cases and poor long-term prognosis. NF1 is generally associated with interstitial lung disease but some cases of severe PH without parenchymal lung disease suggest that there could be a specific pulmonary vascular disease. There is no data available on the efficacy of specific pulmonary arterial hypertension treatment in PH-NF1. Therefore, these patients should be evaluated in expert PH centres and referred for lung transplantation at an early stage. As these patients have an increased risk of malignancy, careful assessment of the post-transplant malignancy risk prior to listing for transplantation is necessary. Clinical trials are...Continue Reading

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Citations

May 22, 2020·American Journal of Respiratory and Critical Care Medicine·Etienne-Marie JutantDavid Montani
Jul 16, 2020·BMJ Case Reports·Sónia Gomes Coelho, Maria José Loureiro
Jul 16, 2020·American Journal of Respiratory and Critical Care Medicine·Nicole F Ruopp, Harrison W Farber
Mar 20, 2019·Respiratory Medicine·Sérgio Ferreira Alves JúniorEdson Marchiori
Apr 13, 2021·Frontiers in Medicine·Mazen Al-QadiH James Ford
Jul 17, 2021·Journal of Investigative Medicine High Impact Case Reports·Suman RaoAndrew M Weinberg

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