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Clinical Science
Abstract
Introduction: Short telomere syndrome (STS), also known as accelerated aging syndrome, is an inheritable gene mutation resulting in decreased telomere length causing high cell turnover of organ systems such as skin, bone marrow, liver, hair, lungs, and immune system. Due to diverse clinical manifestations, STS poses a diagnostic challenge, with bone marrow failure and idiopathic pulmonary fibrosis being frequent manifestations. The inherited form of STS demonstrates genetic anticipation occurring at an earlier age with more severe manifestations in the affected progeny. We present a rare case of inherited STS in a young patient with severe pulmonary fibrosis.
Case Presentation: A 38-year-old man with a strong family history of pulmonary fibrosis presented with progressively worsening exertional shortness of breath and near-syncopal events. He reported cough with sputum production and a weight loss of twelve pounds over five months. Previous pulmonary function tests showed severe restricted function, with a reduction in both lung volumes and severe DLCO reduction.
Physical examination revealed a temperature of 100.1°F, a heart rate of 119 beats per minute, a respiratory rate of 30, oxygen saturation of 91%, and blood pressure of 124/76 mm Hg. The complete metabolic profile showed no abnormalities, while the complete blood count indicated leukocytosis 12.90 c/uL, hemoglobin 18.6 g/dl, hematocrit 54.2%, and platelets 215,000. Arterial blood gas analysis showed a pH of 7.429, pCO2 of 37.2, pO2 of 58.2, and HCO3 of 24.1. Computed tomography of the chest revealed bilateral ground-glass opacities diffusely distributed with traction bronchiectasis, with a pattern indeterminate for Usual Interstitial Pneumonia. An echocardiogram showed an LVEF of 60-65%, with normal LV and RV function. The patient was admitted for hypoxemic respiratory failure secondary to progressive pulmonary fibrosis, with a differential diagnosis of IPAF, hypersensitivity pneumonitis, familial fibrotic ILD, and community-acquired pneumonia. The patient was started on antibiotic regimen for a seven-day treatment, along with a pulse regimen of steroids.
Right heart catheterization revealed group III pulmonary hypertension. Tests for complements, RF, ANA, CCP, anti-centromere antibodies, anti-SCL-70, SSA/SSB, and aldolase were negative, but ESR and CRP were elevated at 56 and 2.8, respectively. Bronchoalveolar lavage indicated neutrophil predominance. Given the family history and clinical presentation, fluorescent in situhybridization (FISH) was ordered, revealing Short Telomere Syndrome. The patient noted that He began developing white hair at 23 years of age and maternal family members had been affected by pulmonary fibrosis and early graying of hair. His mother passed away at 64, and his maternal uncle at 50, both due to pulmonary fibrosis.
Conclusion: STSs occur secondary to premature shortening of telomere lengths, resulting in multisystemic disease. This condition should be suspected in patients with family history of IPF and gray hair before age 30. The main treatment for short telomere syndrome is organ transplantation. In our patient's case the treatment would be lung transplant for IPF. This condition has substantial mortality and morbidly warranting further study in gene therapy to augment impaired telomere functioning. Advances in understanding telomere biology are necessary in creating treatments that augment impaired telomere functioning.
Presentation Type
Poster
Recommended Citation
Kondapavuluru, Roy; Garcia Cruz, Jian; Pillai, Sreejith; and Suarez Parraga, Andres, "Pulmonary fibrosis as a presentation of Short Telomere syndrome: Case report" (2024). Research Colloquium. 57.
https://scholarworks.utrgv.edu/colloquium/2024/posters/57
Included in
Biochemical Phenomena, Metabolism, and Nutrition Commons, Genetic Processes Commons, Interprofessional Education Commons, Respiratory Tract Diseases Commons
Pulmonary fibrosis as a presentation of Short Telomere syndrome: Case report
Introduction: Short telomere syndrome (STS), also known as accelerated aging syndrome, is an inheritable gene mutation resulting in decreased telomere length causing high cell turnover of organ systems such as skin, bone marrow, liver, hair, lungs, and immune system. Due to diverse clinical manifestations, STS poses a diagnostic challenge, with bone marrow failure and idiopathic pulmonary fibrosis being frequent manifestations. The inherited form of STS demonstrates genetic anticipation occurring at an earlier age with more severe manifestations in the affected progeny. We present a rare case of inherited STS in a young patient with severe pulmonary fibrosis.
Case Presentation: A 38-year-old man with a strong family history of pulmonary fibrosis presented with progressively worsening exertional shortness of breath and near-syncopal events. He reported cough with sputum production and a weight loss of twelve pounds over five months. Previous pulmonary function tests showed severe restricted function, with a reduction in both lung volumes and severe DLCO reduction.
Physical examination revealed a temperature of 100.1°F, a heart rate of 119 beats per minute, a respiratory rate of 30, oxygen saturation of 91%, and blood pressure of 124/76 mm Hg. The complete metabolic profile showed no abnormalities, while the complete blood count indicated leukocytosis 12.90 c/uL, hemoglobin 18.6 g/dl, hematocrit 54.2%, and platelets 215,000. Arterial blood gas analysis showed a pH of 7.429, pCO2 of 37.2, pO2 of 58.2, and HCO3 of 24.1. Computed tomography of the chest revealed bilateral ground-glass opacities diffusely distributed with traction bronchiectasis, with a pattern indeterminate for Usual Interstitial Pneumonia. An echocardiogram showed an LVEF of 60-65%, with normal LV and RV function. The patient was admitted for hypoxemic respiratory failure secondary to progressive pulmonary fibrosis, with a differential diagnosis of IPAF, hypersensitivity pneumonitis, familial fibrotic ILD, and community-acquired pneumonia. The patient was started on antibiotic regimen for a seven-day treatment, along with a pulse regimen of steroids.
Right heart catheterization revealed group III pulmonary hypertension. Tests for complements, RF, ANA, CCP, anti-centromere antibodies, anti-SCL-70, SSA/SSB, and aldolase were negative, but ESR and CRP were elevated at 56 and 2.8, respectively. Bronchoalveolar lavage indicated neutrophil predominance. Given the family history and clinical presentation, fluorescent in situhybridization (FISH) was ordered, revealing Short Telomere Syndrome. The patient noted that He began developing white hair at 23 years of age and maternal family members had been affected by pulmonary fibrosis and early graying of hair. His mother passed away at 64, and his maternal uncle at 50, both due to pulmonary fibrosis.
Conclusion: STSs occur secondary to premature shortening of telomere lengths, resulting in multisystemic disease. This condition should be suspected in patients with family history of IPF and gray hair before age 30. The main treatment for short telomere syndrome is organ transplantation. In our patient's case the treatment would be lung transplant for IPF. This condition has substantial mortality and morbidly warranting further study in gene therapy to augment impaired telomere functioning. Advances in understanding telomere biology are necessary in creating treatments that augment impaired telomere functioning.