Bloom Syndrome – Symptoms, Causes, and Risk factors

What is bloom syndrome?

Bloom syndrome is a rare, inherited disorder that can cause several physical and medical problems. People with Bloom syndrome tend to be short in stature, have distinctive facial features, and be extremely sensitive to the sun. They also have a significantly increased risk of developing cancer.

There is no cure for Bloom syndrome, but treatments are available to help manage the symptoms and improve quality of life. People with Bloom syndrome can lead productive lives with proper medical care.

Bloom syndrome is also known as  

• Bloom- Torre- Machacek syndrome  
• BSyn.

What are the symptoms of bloom syndrome?

Some of the symptoms of bloom syndrome are as follows.

Abnormal Growth

One of the observable physical features of Bloom syndrome is abnormal growth. People with Bloom syndrome tend to be shorter, weigh lesser and usually do not surpass 5 feet tall after adulthood. A skinny or slim frame with little fat tissue under the skin is typical.

Distinctive Features

Bloom syndrome is usually marked with distinguishing facial features such as a long, narrow face, a smaller mandible or chin, a pronounced nose, and prominent ears. A high-pitched voice can also be prevalent.

Sun Sensitivity

Extreme sensitivity to the sun causes a butterfly-shaped, red and scaly rash. The rash can occur across the nose, cheeks, or other parts of the body that receive frequent sun exposure, just like the hands, arms, and neck.

Other skin conditions like hypopigmentation (lighter patches of skin), hyperpigmentation (darker patches of skin), and cheilitis (lip blistering) can occur.

Feeding and Digestive Issues

Parents of newborns with Bloom syndrome have issues with feeding and a decreased appetite in their baby, which may continue into childhood. Experts believe oesophageal reflux (GERD)—common in Bloom syndrome patients—may contribute to the feeding issues.

Immunodeficiency

Bloom syndrome patients are usually immunocompromised. The system doesn’t function to their fullest. This makes them more vulnerable to getting repeated infections.

Upper tract, ear and lung infections are common, especially during infancy and childhood. Experts believe this is often due to a deficiency in immunoglobulins.  

What are the danger factors of Bloom syndrome?

Increased Cancer Risk

Bloom syndrome can increase the risk of developing certain types of cancer—particularly leukaemia, lymphoma and skin or alimentary canal cancers. Bloom syndrome patients often develop quite one type of cancer, usually earlier in life than the overall population.

Risk of Certain Medical Conditions

Diabetes, chronic obstructive pulmonary disease, or learning issues can occur more often in people with Bloom syndrome. Additionally, bloom syndrome also causes reduced fertility or fertility complications and sometimes an early onset of menopause, marking the top of menstrual cycles.

Causes of bloom syndrome

Bloom syndrome is caused by a mutation. The BLM gene has variations and provides instructions for creating a specific type of protein. Due to this mutation, the gene doesn’t work correctly and is unstable, leading to the various signs, symptoms and complications of Bloom syndrome.

Treatment

Sun protection

Because Bloom syndrome patients are far more susceptible to skin cancer and often develop sun-induced skin rashes, sun safety measures are vital. A doctor can recommend using sunscreen with a sun protection factor (SPF) of a minimum of 30, wearing protective clothing and avoiding the sun.

Infection treatment

People with recurring infections could also be treated with supplemental immunoglobulins to help cut down on the severity and frequency of diseases, and antibiotics could also be prescribed for bacterial infections.

Insulin treatment  

These patients with insulin resistance have treatment like type 2 diabetes treatments. This might include changes to diet, blood glucose monitoring and insulin therapy.

Cancer treatment

Bloom syndrome patients should be screened at regular intervals and monitored closely for signs of cancer—from carcinoma to lymphoma to everything in between. If cancer is detected, experts recommend using standard cancer treatments like chemotherapy and radiation with extreme caution since people with Bloom syndrome risk developing secondary cancers.

Nutritional support

Because Bloom syndrome patients are small in stature, some doctors recommend high-calorie formulas and foods for weight gain.

Cognitive assistance: If needed, physical, occupational, or speech therapies, services, and classes are often considered for Bloom syndrome patients who show developmental delays.

People with Bloom syndrome who have insulin resistance have treatment options almost like type 2 diabetes treatments. This might include changes to diet, blood glucose monitoring, and insulin therapy, counting on the situation.

Bloom syndrome patients should be tested regularly and monitored closely for signs of cancer. If cancer is detected, doctors recommend a few standard cancer treatments like chemotherapy or radiation with caution, as people with Bloom syndrome risk developing secondary cancers.

As Bloom syndrome patients are small in stature, some doctors recommend high-calorie formulas and foods to market weight gain, especially in childhood. Physical, occupational or speech therapies can be considered for Bloom syndrome patients with developmental delays.

To sum up

Bloom syndrome may be a rare genetic disease that can cause many physical and medical problems. Bloom syndrome is an autosomal recessive genetic disease, indicating that it’s a condition inherited from both parents.

There is no cure for Bloom syndrome or specific treatment for the underlying genetic mutation. However, getting treatment can help people manage their symptoms and lead productive lives.

FAQs