Telomere biology disorder presenting acutely with pulmonary fibrosis and hepatopulmonary syndrome in a young adult male

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 o...

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Bibliographic Details
Published in:Respirology case reports 2023-08, Vol.11 (8), p.e01182-n/a
Main Authors: Kung, Samantha Chin‐Yun, Dixon, Olivia, Kentwell, Sarah, Vasireddy, Raja S., Rodgers, Jonathan, Ding, Yuming, Rahman, Tony, Tallis, Caroline, Yang, Ian A., Mackintosh, John A.
Format: Article
Language:English
Subjects:
Biology
Case Report
Case Reports
cirrhosis
Endoscopy
Genes
Genetic testing
hepatopulmonary syndrome
Hypertension
Liver cirrhosis
Lung diseases
Mutation
Palliative care
Patients
Pneumonia
Pulmonary fibrosis
Telomerase
telomeres
Transplants & implants
Yeast
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Summary: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 (T, p.(Thr567Met)) and a variant of uncertain significance in PARN (c.1159G>A, p.(Gly387Arg)). Combined lung and liver transplantation was deemed not suitable due to frailty and severe hepatopulmonary syndrome, and he died 56 days after presentation. Early recognition of the short telomere syndrome is important, and its multi‐organ involvement poses challenges to management. Genetic screening may be important in younger patients with pulmonary fibrosis or in unexplained liver cirrhosis. A 33‐year‐old man presented with acute dyspnoea and orthodeoxia. CT chest showed established pulmonary fibrosis in a usual interstitial pneumonia pattern and additional investigations revealed oesophageal varices and portal hypertensive gastropathy from liver cirrhosis. Telomere length testing demonstrated short telomeres (
ISSN:2051-3380
2051-3380
DOI:10.1002/rcr2.1182