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Case Report
Interstitial lung disease in a patient with premature aging: Suspected Werner syndrome
1 Pulmonary Disease and Critical Care Medicine Department, San Juan City Hospital, San Juan, Puerto Rico
2 Pulmonary Medicine, Centro Neumologico de Puerto Rico, San Juan, Puerto Rico
3 University of Puerto Rico School of Medicine, San Juan, Puerto Rico
4 Nuclear Medicine, Advanced TechnoNuclear Imaging Center, San Juan, Puerto Rico
Address correspondence to:
Greisha M Gonzalez-Santiago
Urb. Villa Nevarez 351 Calle 4, San Juan 00927,
Puerto Rico
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Article ID: 101355Z01GG2022
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Gonzalez-Santiago GM, Fernandez-Gonzalez R, Rosario MGD, Sierra-Zorita R, Garcia CD. Interstitial lung disease in a patient with premature aging: Suspected Werner syndrome. Int J Case Rep Images 2022;13(2):176–179.ABSTRACT
Werner syndrome (WS) is a rare inherited autosomal recessive disease that can be diagnosed with cardinal signs without the genetic testing. Some features that are consistent with WS include premature aging, loss, and graying hair, scleroderma-like skin changes. We report a 42-year-old man with cardinal signs of WS who also developed interstitial lung disease (ILD). The patient had past medical history (PMHx) of atypical left femur fracture in his early 30s from unknown causes. Also, he had loss and graying hair, salt-on-pepper skin changes, associated with squeaky voice, muscle wasting, and osteoporosis. He had worsening symptoms of dyspnea on exertion and was found with bilateral diffuse subpleural reticular opacities with slight mid- to lower-lung predominance and mild bronchiectasis without honeycombing or ground-glass airspace opacities on chest computed tomography (CT) scan. Other causes of ILD were excluded as patient routine laboratories and rheumatologic workup was negative. Werner syndrome presents similar features with other telomerase-associated diseases such as mutations of telomerase complexes [telomerase RNA component (TERC) and telomerase reverse transcriptase (TERT)]. Werner syndrome can be difficult to diagnose because it is a rare genetic disease that begins to show symptoms and signs after 10 or 20-year-olds, but the diagnosis is recognized after 30s. Few cases have been reported about the association of WS and ILD, but both diseases are aging diseases. This case might be the first case reported in Puerto Rico of Werner syndrome associated with ILD. Early referral and treatment is important to improve patients’ quality of life and life expectancy by slowing the progression of the disease.
Keywords: Interstitial lung disease, Rapid aging, Telomerase reverse transcriptase and telomerase RNA component, Werner syndrome
SUPPORTING INFORMATION
Author Contributions
Greisha M Gonzalez-Santiago - Substantial contributions to conception and design, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Ricardo Fernandez-Gonzalez - Substantial contributions to conception and design, Acquisition of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Modesto Gonzalez-Del Rosario - Substantial contributions to conception and design, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Radames Sierra-Zorita - Acquisition of data, Analysis of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Carlos D Garcia - Acquisition of data, Analysis of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guarantor of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2022 Greisha M Gonzalez-Santiago et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
