Samantha Chin-Yun Kung, Olivia Dixon, Sarah Kentwell, Raja S Vasireddy, Jonathan Rodgers, Yuming Ding, Tony Rahman, Caroline Tallis, Ian A Yang, John A Mackintosh
A 33-year-old man presented with acute dyspnoea and profound hypoxaemia, and had clubbing, greying of hair, orthodeoxia and fine inspiratory crackles. CT chest showed established pulmonary fibrosis in a usual interstitial pneumonia pattern. Additional investigations revealed a small patent foramen ovale, pancytopenia, and oesophageal varices and portal hypertensive gastropathy from liver cirrhosis. Telomere length testing demonstrated short telomeres (<1st percentile), confirming the diagnosis of a telomere biology disorder...
August 2023: Respirology Case Reports