Chest
EditorialsThe Intersection of Genes and Environment: Development of Pulmonary Arterial Hypertension in a Patient With Hereditary Hemorrhagic Telangiectasia and Stimulant Exposure
Section snippets
Case Report
A 45-year-old white woman presented with a 1-year history of progressive dyspnea and reduced exercise tolerance. She reported worsening lower-extremity swelling, abdominal distention, and a 20-pound weight gain, which improved after aggressive diuresis. She was referred to the Stanford PH clinic for further evaluation.
Her medical history was significant for three episodes of cryptic GI bleeding requiring blood transfusion and for spontaneous nose bleeds. Family history was noncontributory,
Discussion
HHT is a clinical diagnosis consisting of epistaxis, mucocutaneous telangiectases, visceral AVMs, and a family history of HHT.2 Genetic mutations may impact PAH progression and prognosis. In HHT associated with PAH, carriers of ACVRL1 mutations present at a younger age and have worse outcome than patients with bone morphogenetic protein receptor type 2 (BMPR2) mutations.3 Also, compared with ACVRL1, endoglin mutations are less frequent and may confer a lower risk of PAH development.3
We believe
Acknowledgments
Financial/nonfinancial disclosures: The authors have reported to CHEST the following conflicts of interest: Dr Zamanian has served as a consultant to United Therapeutics Corporation; Gilead; Actelion Pharmaceuticals, Inc; and Ikaria, Inc. Drs de Jesus Perez, Ayala, Kudelko, and Haddad have reported that no potential conflicts of interest exist with any companies/organizations whose products or services may be discussed in this article.
Role of sponsors: The sponsors had no role in the design of
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Is methamphetamine use associated with idiopathic pulmonary arterial hypertension?
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Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease
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Cited by (12)
Sex-dependent right ventricular hypertrophic gene changes after methamphetamine treatment in mice
2021, European Journal of PharmacologyCitation Excerpt :Our results agreed with previous studies showing that RV pressure is unaffected by MA in rats and mice (Chen et al., 2017a; Liu et al., 2013; Wang et al., 2013). While MA is among risk factors for pulmonary hypertension, it may act as a “second hit” to an underlying genetic (i.e. mutations) or non-genetic (i.e. Human Immunodeficiency Virus (HIV)) conditions (Ayala et al., 2012; Orcholski et al., 2017, 2018). Our understanding of the mechanisms behind MA-associated hypertension is still lacking.
Treatment of pulmonary hypertension in patients with Hereditary Hemorrhagic Telangiectasia – A case series and systematic review
2021, Pulmonary Pharmacology and TherapeuticsCitation Excerpt :Six studies were excluded because they were pediatric cases [17–22]. Eight studies were excluded because they did not report individual hemodynamic parameters, side effects, or follow-up intervals necessary to evaluate the effect of pulmonary vasodilator therapy on the subject/s reported [13,23–29]. One study was excluded because the subject developed PAH following dexfenfluramine use [30].
Pulmonary hypertension in hereditary hemorrhagic telangiectasia: A clinical review
2023, Pulmonary CirculationDeregulation of Drosha in the pathogenesis of hereditary hemorrhagic telangiectasia
2019, Current Opinion in Hematology
Funding/Support: Dr Zamanian has received support from United Therapeutics Corporation; Actelion Pharmaceuticals, Inc; and Gilead. Dr de Jesus Perez receives grant support from the National Institutes of Health [Grant NIH K12 HL089989-04].
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