What is Bloom syndrome?
Bloom syndrome is an inherited (genetic) condition that causes changes to many systems in your body. They have high risk of infections like significant growth delays, sun sensitivities and cancer. Bloom syndrome is also known as Bloom-Torre-Machacek syndrome and Congenital telangiectatic erythema.
How will Bloom syndrome affect?
1)Be shorter than average.
2)Have narrow faces with large ears.
3)Have high-pitched voices.
Higher risk of developing certain conditions which include:
1)Chronic obstructive pulmonary disease
2)Recurrent infections
3)Insulin resistance and diabetes
4)Rash when exposed to sunlight
Increased risk of many cancers, at a younger age, chance of getting more than one cancer is significantly increased.
People with Bloom syndrome may have an increased risk of developing cancers including:
2)Gastrointestinal (digestive system) cancers.
3) Leukaemia
4)Lymphoma
5)Osteosarcoma.
6)Skin cancer (particularly squamous cell cancer).
How common is Bloom syndrome?
Bloom syndrome is rare. Healthcare providers know of fewer than 300 people worldwide who have this condition.
What causes Bloom syndrome?
Bloom syndrome is a genetic disorder that children may inherit from their parents. In people with Bloom syndrome, the BLM gene doesn’t function properly.
Each parent contributes chromosomes that contain a copy of the BLM gene to their baby. If both parents have a change (mutation) in one of their two BLM genes, then their child has a 1 in 4 chance of developing Bloom syndrome when they inherit a mutation from both parents.
What are the symptoms of Bloom syndrome?
1)Abnormalities in certain features, including your jaw, face and ears.
2)Changes to your endocrine system and immune system
3)Developmental delays and intellectual differences.)
4)Extreme sun sensitivity.
5)Frequent infections, especially ear infections and infections of your lungs.
6)Growth problems during fatal development or after birth.
7)Problems with skin (especially a red rash or lesions after sun exposure).
How to diagnose Bloom syndrome?
Healthcare providers sometimes diagnose Bloom syndrome during pregnancy. When the fetus isn’t growing as it should, providers may do genetic amniocentesis, a type of prenatal testing, to check for the condition. Or after baby is born the healthcare provider may notice symptoms of Bloom syndrome.
What tests do healthcare providers use to diagnose Bloom syndrome?
Healthcare providers do a physical examination of baby during a well-baby care visit. They may draw blood to do a blood test that checks the makeup of chromosomes.
How to treat Bloom syndrome?
There isn’t a specific treatment for this condition. Bloom syndrome treatment focuses on treating and managing the symptoms.
Feeding issues are common in babies who have Bloom syndrome. The healthcare provider may recommend extra fluids and feedings for your baby to prevent dehydration and malnutrition.
In people of all ages with Bloom syndrome, providers will recommend various cancer screenings and may prescribe antibiotics to treat infections.
How to prevent Blooms syndrome?
Bloom syndrome is an inherited condition. There isn’t anything you can do to prevent or stop the gene mutation.
Before getting pregnant, you and your partner can undergo genetic testing to find out whether you have mutations in the BLM gene associated with Bloom syndrome.
What can I expect if my child or I have Bloom syndrome?
If you have Bloom syndrome, your risk of developing certain cancers by early adulthood increases. Complications from cancer are the leading cause of death in people with Bloom syndrome. But detecting cancer early gives you the best chance for successful treatment. Follow your healthcare provider’s recommendations for regular cancer screenings.
People with Bloom syndrome is sensitive to ionizing radiation, which can damage cells. The provider may recommend to avoid or limit radiation exposure, including:
If you develop cancer, Bloom syndrome may affect your cancer treatment. Providers often recommend that people with Bloom syndrome avoid radiation therapy.
Is Bloom syndrome curable?
There isn’t a cure for Bloom syndrome. Many people with Bloom syndrome live into adulthood.
