Peutz-Jeghers Syndrome: Symptoms, Diagnostic Tests and Treatment

Peutz Jeghers Syndrome

(PJS) is rare inherited disorder. It is characterized by the appearance of multiple polyps in the gastrointestinal tract. A polyp is a mass of tissue growing abnormally from the inner membranous lining of the gastrointestinal tract. The polyps vary in size and can range between 1/8 of an inch to 1 or 2 inches in diameter. It is an inherited disorder which runs in families.

The areas of the digestive tract which commonly get affected by this condition are the duodenum ( initial part of the small intestine), stomach and colon.

Peutz jeghers Syndrome

What makes PJS an inherited disorder?

Genetic mutations bring about the condition. Individuals at risk from the disease can carry a mutated gene, namely, STK11 or LKB1 located on chromosome 19. The mutated gene is inherited from one of the parents. Parents with PJS have a 50% probability of passing it on to their children. However, not all individuals having the condition necessarily need to have a family history. Some may have a new genetic mutation and could be the first in the family to have it.

Symptoms of Peutz Jeghers Syndrome

The symptoms mentioned below could occur in isolation or could be present in a combination of one or more.

  • Polyps

    : The polyps occurring in this condition are known as hamartomas. These are benign polyps with a very low potential of turning malignant. These can be formed in childhood as in the Juvenile Polyposis Syndrome and can exist without symptoms for many years. However, hamartomas does increase the overall risk of developing cancer later on.

  • Freckling

    : People with this condition can develop freckles or small melanin spots. They are harmless and are found to occur as small black or brown freckles on lips, gingiva, hard palate, inner cheeks, hands, feet and eye lids. They are the early signs which could help diagnose the disease. The mucous lining of the lower lips is almost always affected with this hyperpigmentation.

  • Gastrointestinal Problems

    : Unexplained diarrhea, constipation, cramping, bloating, nausea, abdominal pain, rectal bleeding, weight loss, fatigue, onset of early puberty etc can occur in PJS. Intestinal obstruction can happen when polyps cause blockages. These are called intussusceptions and is an emergency medical condition.

Having any two of the above conditions could point to the condition discussed.

Diagnostic Tests done to detect the condition

  • An endoscopy or a capsule endoscopy ( a small camera is swallowed and it provides pictures as it travels through the intestine) is done to detect the polyps in the small intestine.
  • A colonoscopy is generally done to detect the polyps in the colon.
  • In cases where the condition runs in the family, a specialized blood test can be done to find the abnormal mutation in the STK 11 gene causing PJS. Taking the advice of a genetic counselor is important if the condition is familial.
  • A complete blood count can reveal anemia which could be indicative of the condition.
  • Stool guaiac is a test which is done to find occult or hidden blood or traces of it in stools.

Treatment of Peutz Jeghers Syndrome

  • Surgery may be needed to remove the bigger polyps. They may develop lesions on the surface and can become infected. Polypectomy is a procedure where an endoscope is used and polyps are pinched out. Alternately, a laparotomy which is a minimally invasive procedure is conducted. An incision is made in the belly or pelvic region and the polyps are removed.
  • Iron supplements are needed to counteract the blood loss.
  • Persons having a family history of polyps must go for regular screening. The polyps bear a risk of turning malignant with increasing age. The cancer risk starts increasing from middle age. Early diagnosis and detection is of utmost importance in preventing cancers.

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