Peutz-Jeghers syndrome

Peutz-Jeghers syndrome's disease overview

Peutz-Jeghers syndrome is a typical genetic disorder in chromosomes that make patients develop tumor polyps in the digestive or breast cancer, colon, colon Rectal, testes, ovaries and other types of cancer. In addition, this syndrome also leads to the appearance of melanin pigmentation spots on the skin and mucosa.

Causes of Peutz-Jeghers syndrome's disease

  • The cause of Peutz-Jeghers syndrome is genetic disorders, namely the Genes Gen11 or LKB1 in chromosomes 19. A child with Peutz-Jeghers syndrome Due to receiving mutant genes from parents.
  • Or in some cases, parents do not suffer from Peutz-Jeghers syndrome of children when they are born with this gene mutation and have this disease.
  • STK11 is a tumor inhibiting gene with the function of preventing cells from developing and dividing too quickly. When this gene is mutated, the ability to inhibit tumors is not promoted, so it leads to the process of developing and dividing the cellular cell operating in an uncontrolled manner and forming non -cancer polyps and cancer tumors. Letter in peutz-jeghers syndrome.

    • Symptoms of Peutz-Jeghers syndrome's disease

    Symptoms of patients with Peutz-Jeghers syndrome include:

  • Appears Hamartoma polyps: The normal position in the small intestine, may be in the large intestine and stomach. Polyps appear when young, likely to lead to bleeding with the manifestation of bloody bridges in the stool. This type of polyp does not turn into cancer tumor.
  • Freckles spots: in typical locations such as around the lips, mouth, nostrils, fingers, palms, soles of the feet, anus and intestinal mucosa. These spots are usually flat, gray blue or dark brown, size 2-4mm and often appear in young age (about the first 5 years), fading when reaching puberty but black spots in the oral mucosa are still still exist.

    • Gastrointestinal disorders with the expression:

  • Constipation.
  • diarrhea.
  • Abdominal pain repeatedly due to temporary intestinal obstruction and intestinal cage.
  • weight loss.
    • vomiting. puberty early.
  • Small breasts in boys.
  • The intestinal cage manifests the following: severe abdominal pain, sudden pain, puffer, pain that makes waking up while sleeping and lasting about 5-15 minutes later then disappearing go.

    • Rectal bleeding.

  • Going to bloody bowel movements.
  • can vomit blood.
    • Anemia.

    Transmission route of Peutz-Jeghers syndrome's diseasePeutz-Jeghers syndrome

    Peutz-Jeghers syndrome is a non-communicable disease.

    People at risk for Peutz-Jeghers syndrome's disease

    The factors that increase the risk of Peutz-Jeghers syndrome include:

  • Peutz-Jeghers syndrome is common in young age or early stage of adulthood.
  • People with mothers with Peutz-Jeghers syndrome are at risk of disease with a probability of 50%.

    • Patients with a family history of people who carry in the Genes Gene Stk11/LKB1 suffering from Peutz-Jeghers syndrome is likely to be ill 70%

    People who do not have a family history but still have the ability to get less than 70%.

    Prevention of Peutz-Jeghers syndrome's disease

    To prevent disease, it is necessary to focus on screening of cancer related to Peutz-Jeghers syndrome as follows:

    Subjects from 12 years old to under 18:

  • Men are clinically examined, blood tests, ultrasound, gastrointestinal endoscopy upper and lower, small intestine every 2 years to find signs of early puberty, testicular cancer.

    • Women are also controlled similar to men in the same age.

    Subjects from 18 years old to under 24:

  • Men are controlled by cancer like the stage under 18 years old.

    • Women are examined with gynecological, gynecological ultrasound and finding signs of ovarian tumor once a year.

    Subjects from 24 years of age:

  • Men are taken computerized and ultrasonic endoscopy find pancreatic cancer. In addition, it is also tested for Ca19.9 test every 1 2 years to screen for colon cancer.

    • Women are done similar to men and breast exams, mammography every year.

    In addition, the patient also has subclinical methods such as ultrasound, double laparoscopy, capsule endoscopy, magnetic resonance imaging in combination with clinical examination To screen for small intestinal cancer, thyroid cancer, spleen cancer ...

    Diagnostic measures for Peutz-Jeghers syndrome's disease

    To diagnose Peutz-Jeghers syndrome, patients need to respond to at least 2 of the following conditions:

  • Family history with relatives with Peutz-Jeghers syndrome
  • There is one or more polyps Hamartomatous in the gastrointestinal tract.
  • There appears freckles in the mouth of the mouth, lips, toes.

    • In addition, the patient also has a genetic test to find mutations in the STK11 gene.

    Peutz-Jeghers syndrome's disease treatments

    The method of Peutz-Jeghers syndrome is mainly surgical surgery to remove polyps and prevent progression into cancer.

    Surgery is performed many times including:

  • Open surgery or laparoscopic surgery to handle the problem inside and outside the digestive tract.
  • Large polyp removal surgery.
  • Small polyp surgery.
  • Open the abdominal cavity to cut the intestinal segment due to complications of intestinal cage, bowel obstruction, gastrointestinal bleeding.

    • Note that teeth after surgery will have certain complications such as:

  • sticky, intestinal obstruction.
  • Short intestinal syndrome due to multiple surgery.

    • In addition, patients need to monitor their health and screening for annual cancer as directed to detect and treat the disease in time.

    Patients can also participate in genetic advice with the doctor to get the best solution.

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