CTICasesShort Telomere Syndrome with UIP Pattern, Cirrhosis, Splenomegaly, and Hepatopulmonary Syndrome
Imaging findings
Chest CT reveals peripheral reticular opacities within the mid to lower lungs, with architectural distortion and a UIP pattern on biopsy. Distal pulmonary vessels are plump and extend to the pleural surface, indicative of shunting. Upper abdominal imaging shows a cirrhotic, nodular liver contour and marked splenomegaly. Echocardiography with a bubble study was positive, confirming hepatopulmonary syndrome.
Key takeaways
The combination of a UIP pattern interstitial lung disease, cirrhosis, splenomegaly, and hepatopulmonary syndrome, particularly in a relatively young patient (early 50s), is highly suggestive of short telomere syndrome. This is a genetic disorder leading to cellular senescence and impaired DNA repair, affecting multiple organ systems including the lungs (fibrosis) and liver (cirrhosis). Premature graying can be a clinical clue to this syndrome.
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