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Tometten, Mareike; Kirschner, Martin; Isfort, Susanne; Berres, Marie-Luise; Brümmendorf, Tim H.; Beier, Fabian

Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry

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  • Media type: E-Article
  • Title: Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry
  • Contributor: Tometten, Mareike; Kirschner, Martin; Isfort, Susanne; Berres, Marie-Luise; Brümmendorf, Tim H.; Beier, Fabian
  • imprint: Springer Science and Business Media LLC, 2021
  • Published in: Orphanet Journal of Rare Diseases
  • Language: English
  • DOI: 10.1186/s13023-021-02024-8
  • ISSN: 1750-1172
  • Keywords: Pharmacology (medical) ; Genetics (clinical) ; General Medicine
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Telomere biology disorders (TBD) such as dyskeratosis congenita (DKC) lead to progressive multi-organ failure as impaired telomere maintenance disturbs cellular proliferative capacity. A wide range of hepatic manifestations from asymptomatic liver enzyme elevation to overt liver fibrosis/cirrhosis can be observed in TBD patients. However, the incidence of hepatic involvement remains unknown. Non-invasive transient elastography (TE) predicts early fibrosis by measuring liver stiffness and may uncover subclinical liver damage in TBD patients.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Liver screening procedures of nine TBD patients from the Aachen TBD Registry are being presented retrospectively<jats:italic>.</jats:italic>Following clinical suspicion, TBD was diagnosed using flow-FISH with telomere length (TL) below the 1% percentile and confirmed by next-generation sequencing (NGS) detecting pathogenic mutations in telomere maintenance genes TERC or TERT.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>In all patients, TBD was first diagnosed in adulthood. Patients showed normal to slightly elevated liver function test parameters. Hepatic ultrasound revealed inhomogeneous parenchyma in seven (77.7%) and increased liver echogenicity in four patients (44.4%). Median liver stiffness was 10.7 kilopascal (kPa) (interquartile range 8.4, 15.7 kPa). Using 7.1 kPa as cut-off, 88.8% of patients were classified as moderate fibrosis to cirrhosis.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>Subclinical chronic liver involvement is frequent in patients with adult-onset TBD. TE could have a valuable role in the routine work-up of patients with telomere disorders including DKC for early detection of patients at risk for liver function impairment.</jats:p></jats:sec>
  • Access State: Open Access