Bloom syndrome is a rare, inherited genetic disease passed through families. It is characterized by small stature, a thin frame, and an increased cancer risk.
What is Bloom syndrome?
Bloom syndrome is a rare, inherited genetic disease passed through families in an autosomal recessive manner. This means that for the condition to develop, the affected person must have two copies of the abnormal gene — one abnormal gene from each parent. The parents themselves will not be affected by Bloom syndrome but will each be carriers of one faulty gene.
Males and females are affected equally, and Bloom syndrome has been reported in a variety of ethnic groups. Although, exact incidence is not known. Bloom syndrome is most common in the Central and Eastern European Jewish population.
People with Bloom syndrome tend to be very short and thin with distinctive facial features. They are prone to infections and cancer.
Bloom syndrome is a chronic condition that does not have a cure. Most people with Bloom syndrome survive to adulthood, but the mean age of death is 26 years old (ranging from 1 to 49). Treatments are mainly protective and supportive depending on complications that arise.
You should visit your primary care physician. Diagnosis is established by your symptoms and confirmed with genetic testing. Treatment involves avoiding sun exposure because of higher risks of skin cancer.
Bloom syndrome symptoms
Due to the defects and instability of the DNA genome, Bloom syndrome is characterized by both physical symptoms and further complications.
Physical symptoms of Bloom syndrome may include the following.
- Small stature: People with Bloom syndrome are small in stature but have relatively normal bodily proportions. This is often the first feature that brings these patients to medical attention. People with Bloom syndrome are usually below the 95th percentile of the population in height and weight and rarely exceed five feet tall in adulthood. Their short stature often impedes employment.
- Thin or slim frame: People with Bloom syndrome have very little fat tissue under their skin and can have a very thin appearance.
- Rash on nose and cheeks: A red rash typically happens after sun exposure and appears in the first two years of life. It can be red and scaly, with thin blood vessels throughout (telangiectasias) that occupies the nose, cheeks, and around the lips. This rash can also appear in other places exposed to sunlight, such as the neck, forearms or back of the hands.
- Cafe-au-lait spots: This is a skin symptom characterized by areas of skin that are lighter (hypopigmented) than surrounding areas. These patches can occur anywhere and are not related to sunlight.
- Distinctive facial features: These facial features include a long, narrow face, a small lower jaw, and a prominent nose and ears.
Other issues that may result due to Bloom syndrome include the following.
- Increased cancer risk: People with Bloom syndrome have a predisposition for developing a wide variety of cancers often at an early age in comparison to the general population. They often develop more than one type of cancer during their lifetime. This is thought to be due in large part to the genomic instability and high rate of mutation associated with the disease.
- Immunodeficiency: People with Bloom syndrome are deficient in certain immunoglobulins (proteins responsible for fighting off different pathogens) and are predisposed to infection.
- Fertility complications: Men with Bloom syndrome are often born with failure to produce sperm and thus are considered infertile. Women with Bloom syndrome are not completely infertile because they are born with all the components necessary for childbirth; however, they experience early menopause and are considered to have reduced fertility.
- Upper respiratory complications: Due to immunodeficiency associated with the condition, many people experience recurrent pneumonia and infections of the ear and respiratory tract.
Bloom syndrome causes
Bloom syndrome is caused by a mutation in an important gene called BLM, which is responsible for making a protein that helps maintain the stability of DNA when it goes through processes of repair and replication. People with Bloom syndrome have an inactive or malfunctioning BLM gene that results in extreme genomic instability — meaning the DNA is so unstable that it is easily susceptible to mutation and difficult to repair. The major cause of death in people with Bloom syndrome is cancer.
Treatment options and prevention for Bloom syndrome
Treatment for Bloom syndrome is not specific, but there are certain measures that can be taken to help manage symptoms and improve quality of life.
Protecting the skin
Reduce sun exposure as much as possible and always use sunscreen to prevent flare-ups and exacerbations of the skin rashes associated with sunlight.
Minimizing exposure to radiation
Because radiation is composed of UV rays that can damage the already fragile DNA of people who have Bloom syndrome, make sure your physician uses both an MRI and an ultrasound for diagnostic processes.
Additional immunoglobulin can be given to help with fatigue and predisposition to infection.
When to seek further consultation for Bloom syndrome
The earlier you start regular follow-up for your child with Bloom syndrome, the earlier you can learn the facts, catch tumors, and help your child.
Questions your doctor may ask to determine bloom syndrome
- Has any part of your body become paler than normal?
- Have you been feeling more tired than usual, lethargic or fatigued despite sleeping a normal amount?
- Are you experiencing unusually quick or severe fatigue when doing physical activity or exercising?
- Do you have dry skin?
- Have you had any changes in your weight?
Self-diagnose with our free Buoy Assistant if you answer yes on any of these questions.
Dr. Gambrah-Lyles is a resident pediatrician at the Children's Hospital of Philadelphia. She is a graduate of the University of Pennsylvania Perelman School of Medicine (2019). She graduated cum laude and received her undergraduate degree in Biochemistry and Spanish from Washington University in St. Louis (2013). Her research explores the intersections between neurology, public health, and infectious disease. She has investigated nutrition and cerebral palsy in Botswana, and completed a year-long project in Brazil, researching growth and developmental outcomes of Zika virus infection in pediatric patients as a Doris Duke International Scholar. Dr. Gambrah-Lyles speaks four languages, loves staying active, and enjoys sharing her love for medicine through teaching and writing.
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