Is Peutz-Jeghers syndrome life threatening?

Is Peutz-Jeghers syndrome life threatening?

Peutz-Jeghers syndrome (PJS) is a rare, but life-threatening, familial inherited disease, characterized by mucocutaneous pigmentation and hamartomatous polyps.

Is Peutz-Jeghers syndrome dangerous?

Individuals with Peutz Jeghers syndrome are at a highly increased risk of developing gastrointestinal and other cancers including breast, cervical, uterine, pancreas, and lung. The lifetime risk of developing cancer in affected individuals can be as high as 93%.

How is Peutz-Jeghers syndrome inherited?

PJS is a genetic condition that predisposes a person to an increased risk of developing cancer and polyps. This means that the condition can be passed from generation to generation in a family. PJS is caused by inheriting a mutation in the STK11 gene, also known as the LKB1 gene.

How do you treat Peutz-Jeghers syndrome?

Generally, polyps are treated with a procedure known as a polypectomy, which involves removing the polyps with an endoscope. If the polyps are very large, surgery may be necessary. Although there is no cure for PJS, treatment can reduce complications, such as abdominal pain, bowel obstruction, GI bleeding and cancer.

What’s Peutz-Jeghers syndrome?

Peutz-Jeghers syndrome (PJS) is a condition where people develop characteristic polyps and dark-colored spots and have an increased risk of certain types of cancer. The gene that is mutated, causing this condition, is responsible for controlling cell growth.

Is Peutz-Jeghers syndrome premalignant?

The polyps are not premalignant, but a definite association exists between Peutz-Jeghers syndrome and gastrointestinal carcinoma. Evidence shows that the syndrome is associated with an increased risk of extraintestinal malignancy, especially carcinomas of the pancreas, breast, and reproductive organs.

Are Hamartomatous polyps premalignant?

Hamartomatous polyp usually appear macroscopically as pedunculated, cherry-red lesions. They vary in size and its characteristic histological structure allows the distinction between a Peutz-Jeghers and Juvenile Polyp[1].

How do you prevent Peutz-Jeghers syndrome?

Can Peutz-Jeghers syndrome (PJS) be prevented?

  1. CT or MRI enterography or video capsule endoscopy beginning at age eight to 10 years with follow up interval screening based on findings, but at least by age 18, then every two to three years.
  2. Colonoscopy every two to three years beginning in the late teenage years.

What are the components of Peutz-Jeghers syndrome?

Two or more of the following features must be present for the clinical diagnosis of Peutz-Jeghers syndrome: at least two Peutz-Jeghers-type hamartomatous polyps of the gastrointestinal (GI) tract; mucocutaneous hyperpigmentation affecting the eyes, nose, mouth/lips, fingers, or genitals; a family history of Peutz- …

Are Hamartomatous polyps cancerous?

Though most of the gastric hamartomatous polyps are benign, certain types are associated with increased malignant potential. These include certain polyps associated with specific genetic familial polyposis syndromes and gastric inverted hamartomatous polyps.

What is the Peutz-Jeghers syndrome?

What are the side effects of Peutz Jeghers syndrome?

Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer.

Where are the polyps found in Peutz Jeghers syndrome?

The gene that is mutated, causing this condition, is responsible for controlling cell growth. People with PJS can develop polyps — called Peutz-Jeghers polyps — in the small bowel, colon, stomach, lungs, nose, bladder and rectum. These polyps are considered hamartomatous polyps.

How is genetic testing done for Peutz Jeghers?

Genetic counseling and genetic testing should be offered to anyone that meets these criteria. Genetic testing is done through a blood sample. Nearly all patients with PJS will have a change (mutation) in the STK11/LKB1 gene. Once a mutation is identified, the patient’s family members can be tested for that mutation.

Can a child with PJs inherit the mutation?

There is a 50 percent chance that a child of someone with PJS might inherit the mutated copy of the gene. There is also a 50 percent chance that the child would not inherit the mutation. What causes Peutz-Jeghers syndrome (PJS)? Peutz-Jeghers syndrome (PJS) is caused when a person has a change (mutation) in one copy of the STK11/LKB1 gene.

Can a person with Peutz Jeghers syndrome be cured?

Peutz-Jeghers syndrome (PJS) cannot be cured — it is a life-long condition that can be passed on to children. People with PJS need to be checked frequently for developing polyps. Those polyps can develop into cancer or cause a blockage that could require surgery.

The gene that is mutated, causing this condition, is responsible for controlling cell growth. People with PJS can develop polyps — called Peutz-Jeghers polyps — in the small bowel, colon, stomach, lungs, nose, bladder and rectum. These polyps are considered hamartomatous polyps.

Genetic counseling and genetic testing should be offered to anyone that meets these criteria. Genetic testing is done through a blood sample. Nearly all patients with PJS will have a change (mutation) in the STK11/LKB1 gene. Once a mutation is identified, the patient’s family members can be tested for that mutation.

There is a 50 percent chance that a child of someone with PJS might inherit the mutated copy of the gene. There is also a 50 percent chance that the child would not inherit the mutation. What causes Peutz-Jeghers syndrome (PJS)? Peutz-Jeghers syndrome (PJS) is caused when a person has a change (mutation) in one copy of the STK11/LKB1 gene.