ArticleChest2015
Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders.
Article in Chest, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers.
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The trial behind it
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Who cites it
49 citing papers in PubMed, 125 citations in OpenAlex.
- Trial
- Liver-associated findings and outcomes in a telomere biology disorders clinic.Hepatology communications · 2026Article
- The Genetic Landscape of Fibrotic Interstitial Lung Diseases: Clinical Implications and Diagnostic Challenges in Familial Pulmonary Fibrosis.Journal of clinical medicine · 2026Review
- TeloNet is born: why all specialities need to be aware of telomere biology disorders.Frontiers in medicine · 2026Review
- Hepatopulmonary syndrome in patients with porto-sinusoidal vascular disorder: Characteristics and outcome.JHEP reports : innovation in hepatology · 2025Article
- Viewpoint: Pre- and post-lung transplant considerations for patients with ultra-short telomere length.The European respiratory journal · 2025Article
- Diagnosis, screening, and follow-up of patients with familial interstitial lung disease: Results from an international survey.BMC pulmonary medicine · 2025Article
- Hematological complications in solid organ transplant recipients with telomere biology disorders: a narrative review.Frontiers in immunology · 2025Review
- Inherited Telomere Biology Disorders: Pathophysiology, Clinical Presentation, Diagnostics, and Treatment.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2024Review
- Liver disease and transplantation in telomere biology disorders: An international multicenter cohort.Hepatology communications · 2024Article
- Telomere Biology Disorder: A Focus on Gastrointestinal and Hepatic Manifestations.Current hematologic malignancy reports · 2024Review
- A new variant in theERJ open research · 2024Article
- Immune aging: biological mechanisms, clinical symptoms, and management in lung transplant recipients.Frontiers in transplantation · 2024Review
- Clinical manifestations of telomere biology disorders in adults.Hematology. American Society of Hematology. Education Program · 2023Review
- Telomeres: Dysfunction, Maintenance, Aging and Cancer.Aging and disease · 2023Review
- Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres.Hereditary cancer in clinical practice · 2023Article
- Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective.Diagnostics (Basel, Switzerland) · 2022Review
- Telomere-mediated lung disease.Physiological reviews · 2022Review
- The Role of Telomeres in Human Disease.Annual review of genomics and human genetics · 2022Review
- Liver Transplant for Management of Hepatic Complications of Dyskeratosis Congenita: A Case Report.Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation · 2022Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundTelomere syndromes have their most common manifestation in idiopathic pulmonary fibrosis and emphysema. The short telomere defect in these patients may manifest systemically as bone marrow failure and liver disease. We sought to understand the causes of dyspnea in telomerase and telomere gene mutation carriers who have no parenchymal lung disease.
methodsClinical and pathologic data were reviewed as part of a Johns Hopkins-based natural history study of short telomere syndromes including dyskeratosis congenita.
resultsHepatopulmonary syndrome (HPS) was diagnosed in nine of 42 cases (21%). Their age at presentation was significantly younger than that of cases initially presenting with pulmonary fibrosis and emphysema (median, 25 years vs 55 years; P < .001). Cases had evidence of intra- and extrapulmonary arteriovascular malformations that caused shunt physiology. Nodular regenerative hyperplasia was the most frequent histopathologic abnormality, and it was seen in the absence of cirrhosis. Dyspnea and portal hypertension were progressive, and the median time to death or liver transplantation was 6 years (range, 4-10 years; n = 6). In cases that underwent liver transplantation, dyspnea and hypoxia improved, but pulmonary fibrosis subsequently developed.
conclusionsThis report identifies HPS as a frequent cause of dyspnea in telomerase and telomere gene mutation carriers. While it usually precedes the development of parenchymal lung disease, HPS may also co-occur with pulmonary fibrosis and emphysema. Recognizing this genetic diagnosis is critical for management, especially in the lung and liver transplantation setting.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.