Interstitial lung disease in a patient with premature aging: Suspected Werner syndrome

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.