Puetz-Jegher syndrome causes the development of numerous polyps along the length
of the bowel.
Peutz-Jegher syndrome is extremely rare.
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.
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.
There is no specific treatment for Peutz-Jegher syndrome. Most individuals
will be followed closely by their doctors, and may have routine screening colonoscopys.
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