Bloom Syndrome


Last Updated August 5th, 2021

What is Bloom Syndrome?

Bloom syndrome is a rare genetic disorder that is characterized by short stature and photosensitivity (People with this disorder develop skin rashes when they are exposed to ultraviolet rays from the sun). People born with this disorder are usually shorter compared to the rest of the population, with them rarely exceeding 5 feet in height.

Bloom syndrome is a rare disorder that is known to have affected only a few hundred individuals (approximately 275 reported cases) worldwide. Approximately one-third of the affected people are of Ashkenazi Jewish heritage (people whose ancestors were from Poland or Ukraine)

Symptoms

Turner syndrome and infertilityPeople with this disorder also have certain distinctive facial features including prominent nose and ears; long, narrow face; and a small jaw. They also usually have a high-pitched voice. Some of the other symptoms of this disorder are

  • Infertility: Men with Bloom syndrome are infertile as they are not able to produce sperm. Women, meanwhile, have reduced fertility and get menopause at an earlier age than usual.
  • Telangiectasia: This is a condition in which widened tiny blood vessels form threadlike red lines on the skin. People affected with Bloom syndrome usually have telangiectasia on their faces. The rashes mainly appear in a butterfly pattern on the cheeks.
  • Café au lait spots (discoloration of skin): This condition can also cause areas of abnormal brown or gray skin coloration in some parts of the body.
  • Photosensitivity: The skin of people with this condition is highly sensitive to ultraviolet rays from the sun. The skin especially turns red whenever it is exposed to sunlight.
  • Cancer: At least half of the people with this syndrome eventually develop cancer, especially leukemia.
  • Immune system abnormalities: People with this condition often have problems with their immune systems and this increases their incidences of diseases like middle ear infections and pneumonia.
  • Body abnormalities: Affected people usually have a lot of physical abnormalities like cysts at the base of the spine (pilonidal), extra fingers. They also have abnormalities of the eyes, ears, hands, and/or feet.

Causes

Bloom syndrome is an inherited disorder that results due to an autosomal recessive genetic trait. Chromosomes, which are found in the nuclei of cells, carry genetic information. Humans have a total of 46 chromosomes. 22 pairs of chromosomes plus a pair sex chromosome (X or Y) are inherited from each parent. Males have one X and one Y chromosome, while females have two X chromosomes.

Every chromosome has a short arm designated “p” and a long arm designated “q”. They are further subdivided into many bands that are numbered. The numbered bands indicated the location of the thousands of genes that are present on each chromosome. Genetic disorders happen when there is a mutation in some genes received from the parents.

Recessive genetic disorders happen when a person receives 2 abnormal genes for the same trait from each parent. If a person has one normal gene and one abnormal one, he/she will not manifest any symptoms of the disease. However, he/she becomes a carrier of the disease. The risk of a person developing recessive genetic disorders increases if both the parents are carriers.

Apert Syndrome chromosomesIf both the parents have the abnormal gene related to this condition, the risk of it being passed on to their child (both male and female) is 25% with each pregnancy. The risk of the child becoming a carrier is 50%. Lastly, the chance of the child not getting the disorder at all is 25%.  If the parents are consanguineous (close relatives), there is a higher chance of their child having and a recessive genetic disorder.

Bloom syndrome occurs when a gene called BLM is mutated. This gene is responsible for encoding a protein, which help maintain the structure and integrity of DNA. Bloom syndrome is associated with a high frequency of sister chromatid exchange (SCE), a process that happens during mitosis.

Bloom syndrome is more dangerous than other recessive genetic disorders because the chromosomes of people with this condition are highly unstable and this results in more mutations. The volatility (instability) of the chromosomes in people with Bloom syndrome is thought to be a major contributor to both short stature and a predisposition to cancer.

Diagnosis

Bloom syndrome diagnosis can be done in the following ways

Genetic tests

Molecular genetic tests:  This involves the study of single genes or short lengths of DNA to identify variations or mutations that lead to Bloom syndrome.

Biochemical genetic tests: This involves the study of the amount or activity level of proteins; abnormalities in either can indicate changes to the DNA that result in Bloom syndrome.

Cytogenetics Tests: Bloom syndrome can be diagnosed by observing the frequency of sister chromatid exchange under a microscope.

Physical examination

Since Bloom syndrome is associated with a lot of physical abnormalities, people with this condition can be identified by a physical exam. Doctors may look for certain distinctive facial features including prominent nose and ears; long, narrow face; and a small jaw.

Who should be tested?

Any person with a prominent nose and ears; long, narrow face; and a small jaw should be tested for BS. People whose skins are sensitive to sunlight should also be tested.

Treatment

Melanoma skin cancerAlthough there is no specific treatment for Bloom order, the symptoms can be managed by taking certain steps.

Treatment and management of skin abnormalities

In most cases, skin problems associated with Bloom syndrome can be well managed by standard treatment. Café au lait spots do not require any treatment. Rashes can be prevented by avoiding exposure to the sun (especially during afternoons) or applying sunblock creams. As skin cancer is common in people with BS, it is important to always monitor the skin for any abnormalities.

Screening for Type 2 diabetes

People with BS are at a high risk of developing insulin resistance which leads to type 2 diabetes. People with this condition may get diabetes despite them maintain a normal BMI (body mass index). As a result, people with BD should be tested annually for diabetes especially after they become adults.

Screening for hypothyroidism

The occurrence of hypothyroidism in people with BS is also high. As a result, they should also regular undergo thyroid functioning screening.

Preventing cancer symptoms

ACUTE LYMPHOBLASTIC LEUKEMIA patientPeople with BS are at an increased risk of developing cancer so they should try to stay away from known carcinogens at all times. They should avoid nicotine products and alcohol and stay away from the sun.  Any potential signs of malignancy, including abnormal growths or nodules, chronic pain, or fatigue should be immediately reported. If cancer does develop, individuals with BS cannot be given the standard treatment. This is because chemotherapeutic agents may increase the risk of secondary malignancies. The treatment for such individuals involves a reduction in the chemotherapy dosage and the number of treatment cycles.

Prognosis

Despite Bloom syndrome coming with a lot of complications, people with this condition can lead normal productive lives. However, the average lifespan of an individual with BS is shortened, although this varies from person to person. Most people with this condition usually die due to cancer, which usually appears when the person is in his late teens or early 20s. If the cancer is detected early, the lifespan of these individuals can be extended.

Prevention

This condition cannot be prevented but people with a family history of this disease can undergo genetic counseling before planning to have a baby to understand the risks better. Pregnant women, who have a family history of this disease, should also do a genetic test to determine whether the baby has BS. This can be done via two procedures

Amniocentesis: In this procedure, the doctor uses a needle to remove some amniotic fluid, which is then tested for BS genes.

Chorionic villus sampling: This is done by inserting a tube through the vagina to take tissue samples of the placenta. The samples are then tested for BS genes.

If the baby is tested positive, the doctor will run more tests to determine the severity of the disease. If the disease is too severe, the couple may opt to undergo an abortion.

Facts

  • Most people with Bloom syndrome are likely to develop cancer over their lifetimes. They have 150-300 times the risk of developing cancerous growths as do people without this disorder.
  • David Bloom, a New York City dermatologist, first discovered this disorder in 1954

Facts

  • Men with BS have an average height of 148.5 cm and weight around 41.3 kg. Women, meanwhile, have an average height of 141 cm and weigh around 36.6 kg.
  • Infants and children who have BS have significant feeding problems, with them not having an interest in eating.

Facts

  • People with BS are usually prone to  upper respiratory and gastrointestinal infections
  • People with BS have normal intelligence

Related Conditions

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Dos and Don'ts

Dos
  • Go for regular medical checkups as people with BS are susceptible to a lot of diseases.
  • Apply a good sunscreen lotion or a sunblock before going out during the day
  • Eat a healthy and balanced diet
Don'ts
  • Smoke or drink alcohol as it will further increase your chances of getting cancer
  • Go out during the afternoons when the sun is strong
  • Panic if you have this condition. Newer treatments and proper management can help you lead a normal life.

 

 

 

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11 unbelievable health benefits of thyme you didn’t know! Thyme is a herb that has been used in alternative medicine.It is a well known seasoning in the…
Balneotherapy jacuzzi
5 things you didn’t know about balneotherapy and how you can do it at home Sauna baths have been popular since a long time. But how much more beneficial can balneotherapy be as…
Barium-enema
Barium Enema Barium enema is also known as colon x-ray. Here, the patient is asked to consume small amount of…
Tissue Transglutaminase Antibody (tTG) Test Transglutaminase is an enzyme present in our body and is involved in protein metabolism. A tTg test is…
lp-pla2
LP-PLA2 Test The LP-PLA2 test is a test which is carried out to assess the levels of Lipoprotein-Associated Phospholipase A2…
immunoglobulin M
Immunoglobulin M Test Immunoglobulin M is the largest and the first produced antibody which helps in the prevention or fighting of…
Salt dangers
Sodium chloride: The wonders and dangers of the simple table salt Sodium chloride is a salt containing sodium and chlorine ions at a 1:1 ratio. It is edible and…
The right way to prepare Alfalfa sprouts at home Alfalfa or lusan ghas is not just a nutritious animal fodder. This flavonoid-rich herb has some amazing health…
Find all the instant ways to get rid of blackheads Blackheads - Not only are they aesthetically unappealing but if left untreated these can cause bacterial overgrowth on…
Pescatarian Diet 101: What are the inherent health advantages of this diet? People opt to become a pescatarian in order to enrich their bodies with the essential health benefits that…
Appendix pain: Recent findings on this not-so vestigial organ The exact function of the appendix is still not clear. Some consider it as an organ that once…
How to scrub away stress and fatigue with an Epsom salt bath? Epsom salt is a popular home remedy for many skin ailments. Though there is a lack of scientific…
SIBO Diet: The important dos and don’ts of this gut-healing diet A SIBO diet is a diet that works by eliminating certain sugars from your diet and adding fibers…
Coffee Enema: Turn your favorite morning beverage into a powerful colon cleanser The wonders of coffee are not just limited to waking you up every morning. You can now use…
GGt test
GGT – Gamma-Glutamyl Transferase Test GGT or gammaglutamyl transferase test is a liver function test that is used to detect the extent of…
thyroid_scan
Thyroid Scan Thyroid scan is a diagnostic procedure that aims to view the thyroid gland and detect any growths or…
quinoa salad
Quinoa : A prodigious superfood you need to include in your diet today! Quinoa - what is so special about this native South American grain that has taken the world by…
L-theanine attention
L-Theanine: Better sleep, higher focus, and many other benefits Did you know that L-theanine found in green tea can make you sleep better and be focused at…
improve digestion weight loss
Power up your gut: 8 proven steps on how to improve your digestion Did you know you have a colony of bacteria in your gut that help you in digesting food?…
bananas exercise
10 health reasons why you should go “bananas” over bananas! Bananas:The world's most popular fruit comes with a host of unbelievable health benefits. Find out how you can…
ashwagandha brain
Ashwagandha: The best-kept secret of Ayurveda now revealed! Ashwagandha literally means "smell of horse". Don't get bogged down by that one tiny detail because this ayurveduic…
The complete “what to eat” guide for gluten intolerance Does eating breads and pastas often makes you nauseous? Gluten intolerance is a common reason why you might…
Oxalates: How healthy greens can sometimes be bad news for your kidneys Oxalates are compounds present in a majority of healthy foods. However, at times an overconsumption of these could…
Inversion Therapy: The anti-gravity way of healing chronic back pain Inversion therapy involves suspending a person upside dow using different types of equipment. This works by taking the…
Bubble Tea: Bubbling with nutrition or a hidden sugar mine? The tapioca pearls present in the tea looks like bubbles and hence the name bubble tea became popular.…
vdrl test syphilis
VDRL Test The VDRL test is a blood test that is used to diagnose sexually transmitted or venereal diseases, primarily…
complement c4 test
Anemia Profile Anemia Profile test (Basic) is a blood screening test that measures the levels of important components of the…
shoudler exercises
Keep your shoulders pain-free with these shoulder exercises Shoulder exercises are important in order to prevent chronic back and neck pain. Learn more about how you…
sugar toxic health
Sugar: 7 new shocking truths revealed about the sweet poison Can drinking soda bring you closer to death? Is sugar slowly poisoning you and your family? You would…
sleep deprivation
Don’t let your sleep deficit grow into memory loss or heart attack Why is sleep important for us? How could sleep deprivation harm you? We bet you didn't know about…