Hepatopulmonary syndrome is a frequent cause of dyspnea in the short telomere disorders
AI Gorgy, NL Jonassaint, SE Stanley, A Koteish… - Chest, 2015 - Elsevier
BACKGROUND Telomere 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. METHODS Clinical and pathologic data were reviewed as part
of a Johns Hopkins-based natural history study of short telomere syndromes including …
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. METHODS Clinical and pathologic data were reviewed as part
of a Johns Hopkins-based natural history study of short telomere syndromes including …