Bloom syndrome


Is there a treatment(s) for Bloom syndrome?

There is no cure for Bloom syndrome. Treatment focuses on managing symptoms, preventing any complications, and surveillance for cancer.

Some of the treatments can include supplemental feeding to increase fat stores (this is not known to increase linear growth), diabetes management is the same as for anyone else with diabetes, and treating individuals in a manner appropriate to their chronologic age not a younger age that may be suggested by their small size.

Families also benefit from counseling about the increased chance of cancer in people who have Bloom syndrome. This is because due to the many types of cancers and early age at cancer development cancer screening is needed during a person's entire life. Cancer screening needs to be discussed with the person's doctors.

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Are there other organ specific treatments/symptom specific concomitant treatments for Bloom syndrome?

What screening tests do people with Bloom syndrome need?

Are there other organ specific treatments/symptom specific concomitant treatments for Bloom syndrome?

The most common type of cancer associated with Bloom syndrome is colon cancer. Screening for colon cancer is usually done with an exam called a colonoscopy. People with Bloom syndrome would have their first colonoscopy much earlier than most other people and more often. Colonoscopy might be done every 1 to 2 years and another exam to look for colon cancer called stool guaiac testing may be done every 3 to 6 months. It is important for individuals with Bloom syndrome to work with their doctors in order to get necessary medical care.

What screening tests do people with Bloom syndrome need?

There are several tests a person with Bloom syndrome should get on a regular basis to monitor for possible complications of Bloom syndrome.

  1. Abdominal ultrasound until age 8 to look for Wilms tumor
  2. Whole-body MRI every 1-2 years starting at age 12 to look for lymphoma
  3. Yearly colonoscopy starting at age 10 to monitor for colon cancer
  4. Annual breast MRI in women starting at age 18
  5. Yearly fasting blood glucose and hemoglobin A1C to look for diabetes
  6. Annual serum TSH with reflex to T4 starting at age 10
  7. Yearly lipid profile starting at age 10

Staying in close communication with your doctor will help you make sure you are getting all the screening that is recommended. A medical geneticist can also help you coordinate screening. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website.


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