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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: Adult, Adolescent, Aging, Premature - etiology, Fatal Outcome, Liver Cirrhosis - etiology, Pakistan, Werner Syndrome - physiopathology

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