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Puetz-Jegher syndrome: Treatment, symptoms, advice and help

 

Definition


Puetz-Jegher syndrome causes the development of numerous polyps along the length of the bowel.


Incidence


Peutz-Jegher syndrome is extremely rare.


Inheritance


This condition is inherited in a dominant fashion; this means that only one abnormal copy of the genetic code is required for an individual to have the syndrome. This can be inherited from either he mother or the father.


Risk to Further Children


The chance of further children inheriting Peutz-Jegher syndrome is one in two.


Symptoms and Signs


Peutz-Jegher syndrome is characterised by abnormal brown colouration of the lips, skin and of the mouth often looking like freckles. This is combined with the formation of polyps along the length of the bowel: these are typically blood filled, and have a tendency to bleed.


Abdominal pain caused by blockage of the bowel by these polyps, or by a condition called intussusception, is the most common symptom.


Bleeding from the blood filled polyps may cause the passage of fresh or old, digested blood. This is usually black and tar like in appearance. Blood may also be vomited if the polyps that bleed are high in the gastrointestinal tract.


Complications


Polyps may be found in the upper parts of the airways, in the trachea (the windpipe) and in the urinary system.


About three in every one hundred people with Peutz-Jegher syndrome will develop cancerous change within the polyps of the bowel. There is also a link to tumours of the ovary. This condition may lead to early puberty in girls.


Treatment


There is no specific treatment for Peutz-Jegher syndrome. Most individuals will be followed closely by their doctors, and may have routine screening colonoscopys.


Outcome


Most individuals with Peutz-Jegher syndrome will live normal lives. This is not usually a life shortening condition. Frequent bleeding may become a problem in some people.


By Dr Stephen Rose, MD, FRCP, FRCPCh