Bloom syndrome is an inherited disease that causes a person's chromosomes to break and rearrange frequently. Bloom syndrome is caused by mutations in the BLM gene. The chromosome instability seen in patients with Bloom syndrome causes high rates of cancer beginning in childhood or early adulthood. People with Bloom syndrome are usually smaller in stature than their peers and have a high-pitched voice. They have distinct facial features including a long, narrow face, small lower jaw, prominent nose and ears, and red lesions on the cheeks and the bridge of the nose (often described as “butterfly-shaped” lesions) which appear and worsen with sun exposure. Most people with Bloom syndrome have a normal intellectual ability, however, some will have intellectual and developmental disabilities. They may also have diabetes, chronic lung problems, and suppressed immune systems. They tend to have high rates of pneumonia and ear infections. Men with Bloom syndrome are usually infertile. Women with Bloom syndrome are fertile but often experience early menopause.
The incidence of Bloom syndrome is unknown, and fewer than 300 affected individuals have been reported. Approximately one-third of people with the disease are of Ashkenazi Jewish descent, making it more common in this population than in others. Roughly 1 in 48,000 Ashkenazi Jews is affected by the disease.
There is no cure for Bloom syndrome. Children with Bloom syndrome need nutritional monitoring to ensure maximum growth. People with the disease are advised to stay out of the sun and wear sunscreen to prevent skin lesions, particularly during childhood. They should also make an effort to avoid infection of all kinds. In school, they may require special education classes due to learning difficulties.
People with Bloom syndrome are prone to cancer, so they should be screened regularly starting in childhood and with increasing vigilance into adulthood. Because they are particularly sensitive to radiation and DNA-damaging chemicals, standard cancer treatments often need to be modified. If diabetes is present, this condition is typically treated with diet, blood-sugar monitoring, and insulin supplements.
Despite dealing with numerous medical problems, people with Bloom syndrome can lead productive lives. They are most often of normal or near-normal intelligence. Typically, people with Bloom syndrome lead shortened lives, although lifespan can vary greatly from person to person. The cause of death is usually cancer, which can occur in childhood, but more commonly appears in the late teens or early to mid-twenties. Early detection of cancer and appropriate treatment can help extend the lifespan of these individuals.
A non-profit founded by the parents of a son diagnosed with Bloom syndrome. The organization raises money for research and lists information about current research on its website.
7095 Hollywood Blvd. #583
Los Angeles, CA 90028
A website started by a woman with Bloom syndrome to bring together people who have the disease and their loved ones. Information on the site describes the disease from the perspective of a person who has it.
Explanations of an extensive number of genetic diseases, written for everyday people by the U.S. government's National Institutes of Health.
A combined effort from a number of smaller non-profit organizations to heighten awareness of and reduce the incidence of genetic diseases such as Bloom syndrome, which are prevalent in the Jewish community.
315 West 39th Street, Suite 701
New York, NY 10018
Phone: 866-370-GENE (866-370-4363)
A federation of health organizations dedicated to helping people with rare diseases through education, advocacy, support, and research.