Description: Bloom's Syndrome, an inherited disorder carried by 1 in 100 Ashkenazi Jews, is characterized by photosensitivity and elevated dark red blotches on the skin, growth deficiency, reduced resistance to infectious diseases, and increased susceptibility to tumors.
Symptoms:
- Short stature
- A narrow face with prominent nose
- Skin color changes in the face. Change more noticeable after sunlight exposure
- Butterfly-shaped facial rash, similar to rash caused by Lupus Erythematosis
- A high pitched voice
- An increased susceptibility to infections and respiratory illness
- An increased susceptibility to cancer and leukemia
- Possible fertility problems
- Some may also have mental retardation
- The mean age of death is 27 years of age and is usually related to cancer.
Cause: Bloom's Syndrome is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. The gene for Bloom’s syndrome is located on chromosome 15; one particular mutation in the gene has been identified as the cause of Bloom’s syndrome in the vast majority of Ashkenazi Jews.
Treatment: There is no treatment for the underlying cause of Bloom’s syndrome. Preventative measures such as increased surveillance for cancer and decreased exposure to sunlight and X-rays should be taken. Bone marrow transplant is a possibility.
Disease Frequency: Since this syndrome was first described by New York dermatologist David Bloom in 1954, over 170 individuals have been recognized as being affected.
Carrier Frequency: At least 1 in 100 Ashkenazi Jews is a carrier of Bloom's Syndrome.
Diagnosis: The diagnosis of Bloom’s syndrome can be confirmed or ruled out by a laboratory test known as a chromosome study.
Screening: A carrier-screening requires a blood sample. Through the blood test, it is possible to detect the specific gene change that is seen in Ashkenazi Jews with Bloom's Syndrome. The test is not as accurate for individuals who are from other ethnic background.CVS (chorionic villus sampling) or amniocentesis, performed early in the pregnancy, can detect Bloom's Syndrome in a fetus
History: New York dermatologist David Bloom first described the disease in 1954.
Future: The gene for Bloom’s syndrome, located on chromosome 15, was recently isolated. One particular mutation in the gene has been identified as the cause of Bloom’s syndrome in the vast majority of Ashkenazi Jews. Screening for Bloom's Syndrome is available now because of these recent findings, and perhaps a cure will also be found in the future.
