Bloom Syndrome


Last Updated December 20th, 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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Anti-Streptolysin-O Test The ASO or Anti-Streptolysin-O is a blood test designed to check for the presence of streptococcus bacterial infection…
Squid-ink-spaghetti
Squid Ink: A unique food coloring and flavoring agent Want to add a unique black color to your pasta, noodles and ice-creams? How can you use squid…
Squid-ink-spaghetti
Squid Ink: A unique food coloring and flavoring agent Want to add a unique black color to your pasta, noodles and ice-creams? How can you use squid…
Squid-ink-spaghetti
Squid Ink: A unique food coloring and flavoring agent Want to add a unique black color to your pasta, noodles and ice-creams? How can you use squid…
Tight phimosis ring
Phimosis Read to know everything about phimosis, types, symptoms, treatment, risks and prognosis for patients with this condition.
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…
glutamine workout
Glutamine: Why is this the right choice for muscle-gain supplement? Glutamine can help you gain muscles and build higher immunity. Read more to find out how you can…
Cayenne: The remarkable benefits of these red hot chili peppers These may make you rush for a glass of water, but cayenne pepper is actually a healthy additive…
Love tea, hate tannins? Rooibos tea is just what you need The market is brimming with a multitude of herbal teas. But what makes rooibos tea (or red bush)…
Gatorade: Top things you need to know about this staple energy drink Gatorade is a popular (in fact the most popular) energy drink worldwide. But this power-packed drinks comes with…
Vagus nerve: 7 health benefits of stimulating the “gut-brain” connection As a matter of fact, there are two vagus nerves namely the left and the right but is…
liver cleanse detox
14 go-to foods that are best for a complete natural liver detox Liver cleanse can be achieved by just choosing or avoiding certain types of food. Liver itself is a detoxifying…
Vitamin-D-blood-test
25-Hydroxy Vitamin D test 25-hydroxy Vitamin D test is a blood test used to measure the level of vitamin D in the…
blood elements analysis
Blood Element Analysis Test A blood element analysis is a blood test performed to measure the level of toxic elements such as…
Glucose-6-Phosphate Dehydrogenase (G6PD) test Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme that is found in every cell of the body and it plays…
phenytoin test
Phenytoin test Phenytoin is a drug that is administered mainly to epilepsy patients. The phenytoin blood test measures the level…
malarial antigen test
Malaria Antigen Test A malaria antigen test is a rapid diagnostic test (RDT) that can detect malarial antigens (proteins) in your…
Unbelievable health benefits of gooseberries (and a few tasty recipes) Gooseberries are antioxidant-rich tasty fruits that can be easily added in daily diet to improve overall health and…
piles fissure fistula
Allopathy vs homeopathy vs ayurveda treatment for piles, fissures, and fistula Read to know the best form of treatment among allopathy, homeopathy,or ayurveda for piles, fissures, and fistula
liver detox facts
7 liver detox facts and why ignoring these could kill you! Are you taking care of this organ that handles over 500 different vital functions in your body? Your…
Dragon Fruit – Blessing from Nature’s Basket Dragon fruit is packed with nutrients but low on calories. It is the dream food that can help…
Valerian Root: The best way to achieve tranquil sleep every night Valerian root is probably one of the oldest and safest way to cure your insomnia. Find out how…
What is the right way to take a pregnancy test? A pregnancy test is undertaken to determine if you have conceived. A home pregnancy test is the most…
Sciatica pain relief: Get rid of the pain with these easy daily tips Researchers have claimed that not only heat but icing the area too helps relieve sciatica pain. Find out…
The Cabbage Soup Diet: The healthiest way to instant weight loss Cabbage soup diet rapid weight loss diet for those who want to shed those extra pounds in less…
C-Reactive Protein Test A CRP or c-reactive protein blood test is an important diagnostic tool used to determine the risk of…
free psa test
Free PSA Test The free PSA test is used to detect the level or percentage of free PSA in the body…
HSV-1_IGG
Herpes Simplex Virus I (HSV)-IgG Test Herpes simplex virus I(HSV)-IgG is an Immunoglobulin protein that acts as an antibody & stays in the blood…
Thyroid disorders
Thyroid Profile Thyroid profile is a panel of blood tests performed to check if an individual is suffering from any…
Okra: How can this nutrient-dense vegetable help you fight diabetes? Okra is a food which is rich in nutrients and minerals which are extremely essential for a healthy…
DHEA wrinkles
DHEA: Now get unbelievable age defiance with this wonder hormone! DHEA is known popularly as the age-defying hormone. This supplement is widely used to slow down aging and…
Did you know drinking alkaline water could be the healthier choice for you? Ever wondered how safe is your drinking water in terms of pH? Recent studies have revealed that Alkaline…
Kava: Is it the healthy substitute for alcohol you have been waiting for? Native to the beautiful South Pacific islands, Kava is a famous beverage rooted in the local culture. It…
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…
Surgery or home-remedy; what is the right way to treat a burn The treatment of a burn injury depends on its severity. You can save a life by offering the…