As of 2017, the prevalence of Bloom syndrome is unknown. There are less than 300 cases documented in the literature and/or in the Bloom Syndrome Registry. The prevalence may be higher/lower in particular ethnic groups. Approximately 1/3 of known cases have been of patients with Ashkenazi Jewish ancestry.
As of 2017, there are less than 300 cases of Bloom syndrome documented in the literature and/or in the Bloom Syndrome Registry. Interesting, 1/3 of known cases have been of patients with Ashkenazi Jewish ancestry suggesting that the prevalence may be higher in this population.
As of 2017, there is no known carrier frequency of Bloom syndrome.
Frequently Asked Questions About Bloom syndrome
Why might a child be tested for Bloom syndrome?
Bloom syndrome may be suspected in children who were born very small with feeding difficulties shortly after birth; gastroesophagealreflux (GER) that causes recurrent infections of the ears and lung; and a butterfly-shaped patch of reddened skin across the nose and cheeks worsens after sun exposure.
Who else in my family should I test for Bloom syndrome?
Carriers of autosomal recessive conditions such as Bloom syndrome generally do not show symptoms of the condition and are unaware that they carry a change in the gene responsible. Family members of those with Bloom syndrome may wish to know whether they are carriers of a change in the BLM gene for family planning purposes. Family members who may want to know if they are carriers may include siblings, aunts, uncles, and cousins of people with Bloom syndrome or of people who are known carriers.
Where can I find out about other people with Bloom syndrome?
Bloom’s Connect (https://www.facebook.com/groups/130771598288/) is an international group on Facebook for people with Bloom syndrome and their support systems.
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.
What is the average life expectancy for someone with Bloom syndrome?
The average lifespan for people with Bloom syndrome is shortened usually due to cancer with survival to the teens or 20’s being expected.
What is Bloom syndrome?
Bloom syndrome is a rare genetic condition involving a shorter than average height, a skin rash that appears after exposure to the sun, and a greatly increased risk of developing cancer.
What health problems should I look for in Bloom syndrome?
Bloom syndrome causes an increased risk of developing cancer. People with this condition can develop cancer of any type, but the cancer usually develops at much younger ages than in people without Bloom syndrome. It is not uncommon for people with Bloom syndrome to develop more than one type of cancer.
People with this condition have an increased risk of developing chronic obstructive pulmonary disease (COPD) and recurrent infections of the upper respiratory tract, lungs, and ears during infancy. They also have an increased risk of developing diabetes at an earlier age. The type of diabetes seen in people with Bloom syndrome is not yet well described. It seems to be similar to the usual adult-onset type of diabetes but it starts at a much earlier age.
What happens because of the BLM gene change in Bloom syndrome?
The BLM gene provides the instructions for making a protein in the RecQ helicase family called BLM. Helicases are proteins that bind to DNA and help to unwind the two strands of the DNA molecule. Unwinding the strands of the DNA molecule is necessary to make copies of it in preparation of cell division and repairing damaged DNA.
When cells get ready to divide and form two cells, the DNA that makes up the chromosomes is copied so that each new cell will have two copies of each chromosome. These two copies of the DNA are initially joined and can trade and share pieces of their DNA. The protein made by the BLM gene prevents too many DNA pieces from being shared or traded.
Having mutations in the BLM gene cause an individual to have BLM protein that does not work. Without this protein, the two copies of the DNA will trade 10x more often. Breaks in DNA are much more common in these people and they are less able to repair the damage or breaks in their DNA.
What gene change/mutation/etc. causes Bloom syndrome?
Changes in the BLM gene cause Bloom syndrome.
What does it mean to have a “variant” in the gene for Bloom syndrome?
Having a “variant” in the genes responsible for Bloom syndrome (BLM) means that the gene contains a change that currently doesn’t have enough research or evidence to say whether it can cause Bloom syndrome. As more research is performed, the “variant” may be classified as disease causing (pathogenic or deleterious) or not disease causing (benign).
What are the usual abbreviations for Bloom syndrome?
The common abbreviations for Bloom syndrome are BLS, Bsyn, and BS.
What are the main symptoms of Bloom syndrome?
The main symptoms of Bloom syndrome include exceptionally small size with roughly normal body proportions and a slightly smaller head, a long narrow face with prominent nose and ears, skin that is sensitive to the sun causing a butterfly shaped patch of reddened skin across the nose and cheeks, and an increased risk, or chance, of cancer with affected individuals often developing more than one type of cancer.
What are other features of Bloom syndrome?
Other features of Bloom syndrome include a high-pitched voice, learning disabilities, an increased risk of developing diabetes, chronic obstructive pulmonary disease (COPD), and infections of the upper respiratory tract, ears, and lungs during infancy that may occur several times.
Is there variable expression or incomplete penetrance in Bloom syndrome?
People who receive two copies of the BLM gene with changes known to cause the disease will have Bloom syndrome.
Is there newborn screening for Bloom syndrome?
Bloom syndrome is not currently available on newborn screening. However, children with symptoms of Bloom syndrome should be evaluated by a doctor.
Is there more than one genetic test for Bloom syndrome?
Bloom syndrome is caused by gene changes, called mutations, in the BLM gene. Mutations in this gene can cause the replicated DNA copies (sister chromatids) during cell division to exchange too much genetic information. Testing can either look to see how many exchanges of information occur between the sister chromatids or to look for changes in the BLM gene.
Is there clinical research going on for Bloom syndrome?
The best way to learn about current research projects is by keeping in close contact with the support groups focused on Bloom Syndrome. Two key groups are: Bloom’s Syndrome Association (http://www.bloomssyndromeassociation.org) and Bloom’s Syndrome Foundation (www.bloomssyndrome.org) One important research project is Dr. James German and Dr. Maureen Sanz’s registry for people with Bloom syndrome with the intent to conduct research and as a way to organize information from their many years studying the disease and meeting people with the condition. For current clinical research trials in the United States also see clinicaltrials.gov.
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.
Is there a registry for people with Bloom syndrome?
Dr. James German and Dr. Maureen Sanz run a registry (http://med.cornell.edu/bsr) for people with Bloom syndrome with the intent to conduct research and as a way to organize information from their many years studying the disease and meeting people with the condition.
Is the gene mutation in Bloom syndrome a predisposition or a cause?
Not all changes in the BLM gene cause Bloom syndrome. At least 17 changes in the gene have been identified that do not cause the condition.
If this is a predisposition gene, what are the chances I will get Bloom syndrome?
People who receive two copies of the BLM gene with changes known to cause the disease will have Bloom syndrome.
If my child has Bloom syndrome, what specialist doctors should they see?
Following diagnosis, it is recommended that the child be evaluated for gastroesophageal reflux, diabetes through a fasting blood glucose level, levels of antibodies in the plasma, and a medical genetics consultation. If Bloom syndrome is diagnosed in adulthood, a colonoscopy is recommended to look for colon cancer and a test to look for blood in their stool.
Consulting with a genetics professional can help you make sure you are getting screened for all the complications that can be associated with Bloom syndrome. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.
If my child has Bloom syndrome, what should their doctor know about managing the disease?
Management of people with Bloom syndrome includes surveillance for cancer beginning at a very young age. Ear infections and pneumonia respond well to antibiotics and treatment and control of the gastroesophageal reflux can decrease their frequency. Diabetes can be treated normally as can cancer. However, radiation and DNA-damaging chemicals used for cancer treatment may need to be given in decreased amounts or dosages to prevent complications due to the increased sensitivity of cells in people with Bloom syndrome.
If I have Bloom syndrome, what is the chance that I will have a child with the condition?
If you are a woman who has Bloom syndrome, your chance of having a child with the condition is dependent on whether your partner has a copy of the gene with a change that can cause the condition. Because approximately 1 in every 100 people of Ashkenazi Jewish background are carriers of Bloom syndrome, if a woman with Bloom syndrome has a child with a man of Ashkenazi Jewish background, there is a 1/200 chance their child will have the condition. If the man is not of Ashkenazi Jewish background, then their risk of having a child with the condition is low, but not zero.
Males who have Bloom syndrome are not able to have children because they do not produce sperm. This means a man with Bloom syndrome would not be able to have a child with the condition.
If I have Bloom syndrome, can I have children?
Women with Bloom syndrome have been shown to have problems getting pregnant and often experience menopause at a young age. Men with Bloom syndrome do not produce sperm and as a result cannot have children.
I already have one child with Bloom syndrome, what is the chance that I will have a second child with the condition?
Bloom syndrome is inherited in an autosomal recessive pattern, meaning that both parents of the child likely carry a change in the BLM gene. Each pregnancy between the parents of the affected child will have a 25% (1 in 4) chance of receiving two copies of the gene change causing that child to have Bloom syndrome, a 50% (1 in 2) of receiving one copy of the gene change causing that child to be a carrier, and 25% (1 in 4) chance of receiving two BLM gene copies with no changes.
How is Bloom syndrome inherited?
Bloom syndrome is inherited in an autosomal recessive pattern meaning that both copies of the BLM gene in every cell have changes. Both parents of the person with Bloom syndrome carry one copy of the changed gene, but do not show symptoms of the condition themselves.
Each pregnancy between the parents of the affected child or who are both carriers for Bloom syndrome will have a 25% (1 in 4) chance of receiving two copies of the gene change causing that child to have Bloom syndrome, a 50% (1 in 2) of receiving one copy of the gene change causing that child to be a carrier, and 25% (1 in 4) chance of receiving two BLM gene copies with no changes.
How do I give money to help research in Bloom syndrome?
Donations can be made to:
How do I find clinical research in Bloom syndrome?
Clinical research trials can be found by searching for ‘Bloom syndrome’ on https://clinicaltrials.gov/.
How common is Bloom syndrome?
Bloom syndrome is a rare condition with less than 300 people in the Bloom’s Syndrome Registry worldwide. Bloom syndrome seen more frequently in people of Eastern European Jewish descent.
How are children tested for Bloom syndrome?
Children who have symptoms related to Bloom syndrome generally have a test to see if their DNA pieces are sharing too much information or a test to look for changes in the BLM gene. A blood sample is commonly needed for these tests.
Does anything make Bloom syndrome worse?
Sun exposure to the face should be avoided because people with Bloom syndrome are unable to repair the DNA damage that occurs as a result of ultraviolet light.
Can someone with Bloom syndrome be in the sun?
Because individuals with Bloom syndrome are unable to correctly repair damage done to the skin from sun exposure, sunscreen is very important. Covering the skin as much as possible while outside is very important to prevent skin damage. Also, for areas that are exposed, wearing a broad-spectrum sunscreen with an SPF of at least 30 will help reduce the risk of damage and sun-sensitive rash.
Are there psychiatric conditions associated with Bloom syndrome?
There are not psychiatric conditions associated with Bloom syndrome.
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.
[link url=" http://www.ncbi.nlm.nih.gov/books/NBK1398 ” target=”_blank”>http://www.ncbi.nlm.nih.gov/books/NBK1398
Are there other names for Bloom syndrome?
Bloom syndrome is known by several other names including:
• Bloom’s syndrome
• Bloom-Torre-Machacek syndrome
Are there one or two “’odd” or “unusual” symptoms or clinical features of Bloom syndrome?
Unusual symptoms or clinical features of Bloom syndrome include their small but proportionate size and butterfly-shaped patch of reddened skin across the nose and cheeks that gets worse after sun exposure.
Are there learning problems associated with Bloom syndrome?
Mild learning problems have been described in Bloom syndrome but they have not been well studied.
Are there good support groups for Bloom syndrome?
Below is list of support groups for Bloom syndrome:
Are there earlier onset, later onset, or variant forms of Bloom syndrome?
There are not earlier onset, later onset, or variant forms of Bloom syndrome. The small size often associated with Bloom syndrome is apparent from birth and usually followed shortly after by feeding problems and severe reflux.
Are there characteristic physical features associated with Bloom syndrome?
People with Bloom syndrome are generally smaller than 97% of the population in both height and weight. Their skin is very sensitive to sun exposure, and they usually develop a patch of reddened skin across the nose and cheek that is shaped like a butterfly. Other areas, such as the back of the hands and the forearms can also develop a rash with small areas of enlarged blood vessels (telangiectases). Other areas of the skin not exposed to the sun may be lighter (hypopigmented) or darker (hyperpigmented) than the surrounding area.
Are there any other diseases that look a lot like Bloom syndrome?
Other conditions that look similar to Bloom syndrome include:
• Russell-Silver syndrome
• Fanconi anemia
• Ataxia-telangiectasia (AT)
• AT-like syndrome
• Werner syndrome
• Nijmegen breakage syndrome
Are there any centers of excellence in Bloom syndrome?
The best way to find a doctor specializing in Bloom Syndrome (BS) is to ask the BS support groups are: Bloom’s Syndrome Association (http://www.bloomssyndromeassociation.org) and Bloom’s Syndrome Foundation ([link url="www.bloomssyndrome.org” target=”_blank”>www.bloomssyndrome.org) In addition there are 3 doctors who specialize in Bloom syndrome:
• James L. German III, M.D. – Weill Medical College of Cornell University
• Maureen M. Sanz, Ph.D., – Weill Medical College of Cornell University
• Eberhard Passarge, M.D. – University of Essen School of Medicine
