Abstract Introduction Telomeres are repetitive DNA sequences at chromosome ends that maintain genomic stability and shorten with age. (1,2) Mutations in genes such as DKC1, TERC, TERT, NOP10, and NHP2 cause Telomere Biology Disorders (TBD), notably Dyskeratosis Congenita, leading to shortened telomeres. (1,2) Acquired TBDs arise from environmental or occupational exposures to particulate matter, hydrocarbons, heavy metals, and pesticides and commonly affect veterans, truck drivers, and industrial workers (10). These exposures generate reactive oxygen species associated with cardiac and pulmonary disease. TBDs also contribute to cancer, liver disease, pulmonary fibrosis, and bone marrow failure. (3,4,5,7,8,9) Idiopathic Pulmonary Fibrosis (IPF) is most common, followed by hepatic fibrosis or cirrhosis, hematologic disorders (e.g., aplastic anemia, MDS), and rarely gastrointestinal findings. (1,2,3,4,5,7,8) This case describes a Gulf War veteran with acquired short telomeres and multisystem involvement (hepatic, pulmonary, hematologic, and gastrointestinal (Gastric Antral Vascular Ectasia, GAVE)), the first documented case linking TBD with GAVE. Case A 76-year-old male with atrial fibrillation (post-Watchman), cirrhosis, COPD, IPF, diabetes, and anemia presented with severe shortness of breath and hypoxia. Imaging revealed multifocal pneumonia, pulmonary congestion, and COPD changes. Labs showed elevated troponin, lactate, and INR with leukocytosis, consistent with Severe Sepsis and Acute Hypoxic Respiratory Failure. Treatment included AVAPS, IV Zosyn, IV Lasix, steroids, bronchodilators, and diuretics. Pulmonology managed his pneumonia and IPF, while cardiology treated his heart failure. His condition improved, and he was discharged on baseline 3L O2. His GI history included GAVE, a rare bleeding disorder with gastric angiodysplasias causing chronic iron-deficiency anemia, previously treated with banding. Hematologic findings included chronic anemia, thrombocytopenia, and a hypocellular bone marrow with 12% atypical NK cells. Discussion The patient’s Gulf War exposure to oil fire pollutants (benzene, toluene, PAHs, lead, cadmium, and particulate matter) likely contributed to telomere shortening and TBD-related multisystem disease. Given his shortened telomeres, testing for TERC and TERT mutations is warranted. GAVE (“watermelon stomach”) is a rare cause of GI bleeding characterized by dilated gastric vessels and chronic anemia and has been linked to TBD but no current reports have documented this. Its occurrence in this patient suggests an unrecognized gastrointestinal manifestation of TBD. Conclusion This represents the first reported case of acquired TBD presenting with combined hepatic, pulmonary, hematologic, and gastrointestinal (GAVE) involvement, establishing a novel association between TBD and GAVE. Clinicians should consider TBD in adults with concurrent hepatic and pulmonary disease to facilitate earlier diagnosis and management. This abstract is funded by: None
Uhlen et al. (Fri,) studied this question.