Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

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 Mahmood

Med 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

Add Comment 0 Comments

Editorial

01 April 2024 : Editorial  

Editorial: Forty Years of Waiting for Prevention and Cure of HIV Infection – Ongoing Challenges and Hopes for Vaccine Development and Overcoming Antiretroviral Drug Resistance

Dinah V. Parums

DOI: 10.12659/MSM.944600

Med Sci Monit 2024; 30:e944600

0:00

In Press

15 Apr 2024 : Laboratory Research  

The Role of Copper-Induced M2 Macrophage Polarization in Protecting Cartilage Matrix in Osteoarthritis

Med Sci Monit In Press; DOI: 10.12659/MSM.943738  

0:00

07 Mar 2024 : Clinical Research  

Knowledge of and Attitudes Toward Clinical Trials: A Questionnaire-Based Study of 179 Male Third- and Fourt...

Med Sci Monit In Press; DOI: 10.12659/MSM.943468  

0:00

08 Mar 2024 : Animal Research  

Modification of Experimental Model of Necrotizing Enterocolitis (NEC) in Rat Pups by Single Exposure to Hyp...

Med Sci Monit In Press; DOI: 10.12659/MSM.943443  

0:00

18 Apr 2024 : Clinical Research  

Comparative Analysis of Open and Closed Sphincterotomy for the Treatment of Chronic Anal Fissure: Safety an...

Med Sci Monit In Press; DOI: 10.12659/MSM.944127  

0:00

Most Viewed Current Articles

17 Jan 2024 : Review article  

Vaccination Guidelines for Pregnant Women: Addressing COVID-19 and the Omicron Variant

DOI :10.12659/MSM.942799

Med Sci Monit 2024; 30:e942799

0:00

14 Dec 2022 : Clinical Research  

Prevalence and Variability of Allergen-Specific Immunoglobulin E in Patients with Elevated Tryptase Levels

DOI :10.12659/MSM.937990

Med Sci Monit 2022; 28:e937990

0:00

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

0:00

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

0:00

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750