04 May 2007
Cirrhosis in Werner's syndrome: An unusual presentation of premature aging.
Abdul Hakeem, Shahzad Reza, Salman Moinuddin, Sabha Bhatti, Imran Khalid, Rahat Noor, Khalid MahmoodMed Sci Monit 2007; 13(5): CS61-66 :: ID: 484612
Abstract
Background: Werner’s syndrome (WS) is an rare autosomal recessive, hereditary systemic disease with progeroid features, usually presenting in adolescence. It is associated with increased genetic instability and elevated risk of neoplasia. Clinical manifestations include small stature, scleroderma-like changes in the skin, juvenile cataracts, and premature aging. It has been reported mostly in ophthalmological, dermatological, and orthopedics literature. It is now being correctly acknowledged as a condition where a lack of Werner’s protein (WRN protein) results in an overall decline of normal physiological functions of various organ systems. Cirrhosis is an extremely rare manifestation of Werner’s syndrome and has been reported in <4% of patients.
Case report: A case of cirrhosis in a patient with Werner’s syndrome is described. A 25-year-old male presented with features of premature senility and progressive abdominal distension with black tarry stools of over six months duration. His clinical presentation and work-up including a biopsy were consistent with cirrhosis. The work-up for other causes of chronic liver disease was negative. He was medically managed for portal hypertension. Despite maximal medical therapy, he died due to recurrent episodes of hematemesis.
Conclusions:
This case is not only the first documented case of Werner’s from Pakistan, but describes an unusual presentation: cirrhosis, a very rare complication of WS. Overproduction of types I and III collagen and nonalcoholic steatohepatitis secondary to insulin resistance and dyslipidemia possibly contribute to cirrhosis in WS.
Keywords: Adolescent, Aging, Premature - etiology, Fatal Outcome, Liver Cirrhosis - etiology, Pakistan, Werner Syndrome - physiopathology
Editorial
01 May 2024 : Editorial
Editorial: First Regulatory Approval for Adoptive Cell Therapy with Autologous Tumor-Infiltrating Lymphocytes (TILs) – Lifileucel (Amtagvi)DOI: 10.12659/MSM.944927
Med Sci Monit 2024; 30:e944927
In Press
12 Mar 2024 : Clinical Research
Tissue Inhibitors of Metalloproteinase 1 (TIMP-1) and 3 (TIMP-3) as New Markers of Acute Kidney Injury Afte...Med Sci Monit In Press; DOI: 10.12659/MSM.943500
12 Mar 2024 : Review article
Optimizing Behçet Uveitis Management: A Review of Personalized Immunosuppressive StrategiesMed Sci Monit In Press; DOI: 10.12659/MSM.943240
12 Mar 2024 : Clinical Research
Metabolomic Alterations in Methotrexate Treatment of Moderate-to-Severe PsoriasisMed Sci Monit In Press; DOI: 10.12659/MSM.943360
14 Mar 2024 : Clinical Research
Renal Dysfunction Increases Risk of Adverse Cardiovascular Events in 5-Year Follow-Up Study of Intermediate...Med Sci Monit In Press; DOI: 10.12659/MSM.943956
Most Viewed Current Articles
17 Jan 2024 : Review article
Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron VariantDOI :10.12659/MSM.942799
Med Sci Monit 2024; 30:e942799
14 Dec 2022 : Clinical Research
Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase LevelsDOI :10.12659/MSM.937990
Med Sci Monit 2022; 28:e937990
16 May 2023 : Clinical Research
Electrophysiological Testing for an Auditory Processing Disorder and Reading Performance in 54 School Stude...DOI :10.12659/MSM.940387
Med Sci Monit 2023; 29:e940387
01 Jan 2022 : Editorial
Editorial: Current Status of Oral Antiviral Drug Treatments for SARS-CoV-2 Infection in Non-Hospitalized Pa...DOI :10.12659/MSM.935952
Med Sci Monit 2022; 28:e935952