What is Peutz-Jeghers Syndrome?
Peutz-Jeghers syndrome (PJS) is a genetic condition that increases a person’s risk of developing certain types of cancer. It leads to the development of growths in the digestive system, skin markings, and increases the likelihood of cancer. Those with PJS often have a heightened risk of developing digestive tract cancers, such as in the colon, pancreas, and stomach, but they can also be more prone to other types of cancer, including lung, breast, uterus, and cervical cancer, as well as cancer in the ovaries and testicles.
It’s worth mentioning that among the many types of cancer PJS can lead to, colon cancer is the most common, with potential risk throughout a person’s life being 39%. For women, there’s a 32% to 54% risk of getting breast cancer in their lifetime.
Additionally, women with PJS are more likely to develop specific types of gynecological cancers (cancers related to the female reproductive system). These can include harmless yet abnormal growths in the ovaries (benign ovarian sex cord tumors with annular tubules or SCTATs), and mucus-filled tumors in the ovaries and fallopian tubes. Men with PJS are at risk of developing tumors in their testicles, often producing estrogen, leading to breast enlargement (gynecomastia), unusually quick growth yet shorter height, and advanced bone age.
Because of the increased cancer risk for those with PJS, regular health check-ups are highly recommended to catch any potential beginnings of cancer as early as possible.
What Causes Peutz-Jeghers Syndrome?
Peutz-Jeghers syndrome, a medical condition, often becomes noticeable when changes in the STK11 genes are combined with defects in the second STK11 gene within body cells. It’s crucial to know that the STK11, also known as LKB1, gene acts as a guardian preventing tumors from forming in the body. This gene has a significant part to play in managing the life cycle of a cell.
Risk Factors and Frequency for Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome is an uncommon condition that affects roughly 1 in 25,000 to 300,000 births. People from any ethnic background can have this syndrome and it is seen equally in both males and females. People with this syndrome have a higher chance of developing cancer. Typically, the average age of developing cancer in these patients is around 42 years.
Signs and Symptoms of Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome is usually diagnosed in people around the age of 23 and the two main signs of this condition are spots of pigmented skin and benign growths, known as polyps, in the gastrointestinal (GI) tract. This condition often first alerts doctors when it causes a blockage in the intestines.
More than 95% of individuals with Peutz-Jeghers syndrome have dark blue, brown, or black spots on their skin. These spots most commonly appear on the lips, around the mouth, the inner cheeks, eyes, nostrils, fingertips, palms, soles of the feet, and around the anus. They typically appear during childhood, specifically before the age of 5, with oral pigmentation usually appearing within the first year. These spots might lessen during puberty and adulthood but those on the inner cheeks persist. The spots are not cancerous.
People with Peutz-Jeghers syndrome also develop benign polyps with low risk of cancer. These polyps usually appear within the first ten years of life and can occur anywhere in the GI tract, though they are most commonly found in the jejunum – part of the small intestine. The polyps can also occur in areas outside the GI tract, such as the bronchus, renal pelvis, and the urinary bladder.
This syndrome can lead to issues such as intestinal obstruction or invagination, where one part of the intestine slides into another, due to the polyps. This can result in abdominal pain or ulceration of the intestines. Almost 69% of patients undergo invagination of the small intestine between the ages of 6 and 18. The GI polyps may also lead to chronic bleeding, causing anemia.
Testing for Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome is a condition that can be confirmed based on the presence of at least two of the following three clinical signs:
1. A family history of the disease
2. Multiple dark blue to brown spots (known as macules) on the skin and the moist, inner lining of some body parts and organs (known as mucous membranes). These marks can often be found inside the mouth, on the gums, lips, around the mouth, fingertips, hands, and feet.
3. Development of unusual, non-cancerous growths called hamartomatous intestinal polyps in the digestive tract.
However, the presence of these skin and mucous membrane signs is not specific to Peutz-Jeghers syndrome alone. Therefore, other possible conditions that present in a similar manner should also be taken into account. To be sure of the diagnosis, molecular and genetic testing could be helpful.
Treatment Options for Peutz-Jeghers Syndrome
The main approach in treating patients with Peutz-Jeghers syndrome includes keeping an eye on their condition, intervening to prevent the symptoms from worsening, and addressing complications as they arise.
Peutz-Jeghers syndrome often causes growths known as polyps in the gastrointestinal (GI) tract, particularly in the small intestine. These can start showing up as early as age 10. Hence, it is crucial to check the small intestine regularly using a procedure called an upper endoscopy. This is performed in combination with a colonoscopy, which checks the large intestine, starting from early adolescence.
People with Peutz-Jeghers syndrome have a higher risk of developing certain types of cancers. Therefore, your doctor might recommend the following regular check-ups:
For the Upper GI Tract:
An initial upper endoscopy is usually done starting at the age of 12. If polyps are found, another endoscopy is performed every year. If there are no polyps, the endoscopy should be repeated every 2 to 3 years once you reach adulthood.
For the Large Intestine (Colorectal):
A colonoscopy screening is also usually done beginning at age 12, or earlier if you’re having symptoms. If polyps are found, a colonoscopy is done every year. If there are no polyps, colonoscopies are recommended every 1 to 3 years.
For the Pancreas:
Starting from age 25 to 30, a magnetic resonance cholangiopancreatography (a type of MRI scan) or an endoscopic ultrasound (a procedure that uses sound waves to create images of the pancreas) is recommended every 1 to 2 years.
For Breast Health:
Starting at age 25, women should undergo a clinical breast examination every 6 months and an annual mammogram (an X-ray of the breast).
For Gynecological Health:
Women should consider an annual Pap smear test, which can detect abnormal cells that could lead to cervical cancer, and a yearly transvaginal ultrasound starting at age 18.
For Testicular Health:
An annual testicular examination and ultrasound should be considered starting at age 10.
As part of prevention, genetic counseling is advised for anyone planning to have children if Peutz-Jeghers syndrome runs in their family. For women with the condition, prophylactic (preventative) mastectomy, which is the removal of the breasts to prevent breast cancer, along with hysterectomy (removal of the uterus) and salpingo-oophorectomy (removal of the ovaries and fallopian tubes) after having children or reaching age 35, could be considered to prevent cancers in these areas. These are significant decisions that should be carefully considered and discussed with healthcare professionals.
What else can Peutz-Jeghers Syndrome be?
Juvenile polyposis (JPS) is a condition passed down through families that causes growths in the small intestine. These growths are due to changes in certain genes (BMPR1A, SMAD4, or ENG). While JPS primarily affects the digestive system, it doesn’t typically have visible effects on the skin.
Peutz-Jeghers syndrome, Bannayan-Riley Ruvalcaba syndrome (BRRS), and Cowden Syndrome are all part of a group of conditions that cause similar growths in the body. Despite the similarities, these conditions occur due to mutations in different genes. For example, BRRS and Cowden syndromes are due to changes in the PTEN1 gene and can cause skin changes, particularly on the tip of the penis. Patients with BRRS often have a larger than normal head size, developmental delays, benign fat tissue growths, and abnormal blood vessels. Cowden syndrome patients, on the other hand, often have skin bumps, small growths on the face or inside the mouth, and hard skin growths on their hands and feet.
Laugier-Hunziker syndrome (LHS) is another condition that causes pigmented areas inside the mouth, skin, and nails. These symptoms typically appear in adulthood, not during childhood. One key difference between LHS and the other conditions mentioned is that LHS does not cause growths in the digestive system.
What to expect with Peutz-Jeghers Syndrome
People with Peutz-Jeghers syndrome have a higher chance of developing cancer. Because of this, it is advisable to have check-ups and cancer screenings more frequently and at a younger age.
Possible Complications When Diagnosed with Peutz-Jeghers Syndrome
Possible Health Complications:
- Blockage in the intestines
- Bleeding from the rectum
- Insufficient blood supply to the small intestine
- Blockage at the exit of the stomach, impeding food passage
- Anemia caused by low iron levels
