Short telomere syndrome and fibrosis

Learning Point We are presenting a patient with dyspnea and pulmonary fibrosis who was later found to have cirrhosis with an ultimate diagnosis of telomere length disorder. Telomere shortening syndrome should be considered in the differential diagnosis of patients with cryptogenic cirrhosis, especially if they have other manifestations of organ fibrosis. A43-year-old man presented with progressive dyspnea on exertion over several months. He is a heavy smoker but denied exposure to chemicals, inhalants or dusts. Medications included fluticasone and albuterol inhalers. On physical exam patient appeared significantly older than his biologic age. Chest exam showed bilateral crackles without wheezing or rhonchi. Cardiac exam was unremarkable. His liver was enlarged 1–2 cm below the right costal margin and his spleen was palpated 1 cm below the left costal margin. Skin exam revealed spider nevi but no palmar erythema. Spirometry suggested moderate restriction with severely …