Bloom Syndrome: Treatment, Procedure, Cost and Side Effects

Bloom syndrome is also known in medical terms as Bloom-Torre-Machacek syndrome or simply Bloom’s syndrome.

Bloom syndrome is a rare autosomal recessive inherited genetic disorder. It is characterized by short stature of the person, and multiple small dilated blood vessels (telangiectasia) over the nose and cheeks resembling a butterfly in shape. The patient has an increased skin sensitivity to ultraviolet rays from the sun (photosensitivitymild immune deficiency and an increased susceptibility to infections. Most importantly, people affected with bloom syndrome have a markedly increased susceptibility to many types of cancer, especially leukemia, lymphoma and gastrointestinal tract tumors. Bloom syndrome is a prototype of a group of genetic conditions known as chromosome breakage syndromes. The increased risk for cancer is the genetic abnormality in Bloom syndrome which causes problems with DNA repair, and thus, results in the breakage and rearrangement of a high number of chromosomes.

Bloom syndrome, in general, is characterized by genome instability. The most evident signs and symptoms of bloom syndrome include short stature and a rash on the face that develops early in life when exposed to the sun. The skin rash is erythematous, telangiectatic, infiltrated, and scaly, and it can be visible across the nose, on the cheeks and around the lips. Rashes tend to develop on any areas exposed to the sun. This includes the backs of the hands and neck. Other clinical features noted in people with bloom syndrome are a high-pitched voice; distinct facial features which include a long, narrow face, micrognathism, and prominent nose and ears. People find change in the pigmentation of the skin including hypo-pigmented and hyper-pigmented areas, cafe-au-lait spots, and telangiectasias (dilated blood vessels), which can appear on the skin and eyes. Most individuals with Bloom syndrome are born with a low birth weight. The most serious and common complication of Bloom syndrome is cancer. Other complications of the disorder include chronic obstructive lung disease, diabetes, and learning disabilities. People with Bloom Syndrome have a shortened life expectancy; the average life span is approximately 27 years.

Bloom syndrome has no specific treatment. People should prevent exposure to sun light and protect the exposed areas effectively with the use of sunscreens and sun guards like sunglasses, umbrella, full sleeve dresses etc. Consultation with dermatologists should help in further ways to protect the skin. Any signs of infection must be treated with antibiotics and other medicines.

Bloom syndrome can be diagnosed by two tests-cytogenetic analysis or mutation testing. The former analysis is used to detect if there is an increased amount of sister chromatid exchange in the cells. Genetic testing in the patient can reveal if the person has mutations in the BLM gene. These mutated genes are known to cause Bloom Syndrome. An individual with a family history of Bloom syndrome can also inherit the same. This can be tested by one of these two testing methods. Bloom syndrome in an individual with an affected sibling can be diagnosed by an unusually low birth weight and short height throughout childhood.

There is at present no cure for Bloom syndrome. People should be careful to avoid sunrays and get a symptomatic and supportive care. In case symptoms turn towards becoming cancerous, people should seek the necessary treatment. They should protect themselves with sun screens, sunglasses and full sleeved clothes to prevent absorption of UV rays by the skin. Also, other environmental mutagens which cause symptoms should be avoided.

Children with signs and symptoms of Bloom syndrome are eligible for treatment which involves symptomatic and supportive care. Children with low birth rate and short stature may be diagnosed with Bloom syndrome. Hence, they should be taken to a doctor for proper medical care.

People and infants with proper growth rate, normal stature, normal body weight are not eligible for treatment. Absence of signs and syndromes of Bloom syndrome in people indicate proper health and thus, these people are not eligible for treatment of the same.

Treatment of bloom syndrome is mainly supportive, and thus, do not involve major side effects in the patients. People are at a high risk of developing cancer and thus, treatment must be done carefully in order to prevent cancer from developing. If treatment measures go wrong, people will be affected more and be at a risk of developing cancer earlier.

As the treatment itself involves protection from the sun to prevent rashes and cancer, the post treatment symptoms also involve the same. Patients should always be careful not to let the harmful UV rays of the sun percolate the skin. This can cause major problems in them. Also, they should visit the doctor for check ups.

This disorder cannot be cured and thus, causes the patients affected with bloom syndrome have a lesser life expectancy, on an average of 24 years. Thus, there can be no such time for recovery, People undergo the supportive and symptomatic treatment in order to live without further complications till expected.

Bloom syndrome treatment may not require a huge expenditure. But the tests done in order to diagnose the syndrome can cost huge. This price ranges between Rs 20000/- to Rs 50000/-. There can be additional costs depending on individuals and the associated symptoms.

People with Bloom syndrome have a decreased life expectancy. They can hardly live up to 27 years. So, the treatment cannot be said to be permanent. This disease cannot be cured and patients face an inevitable death at an early age. Treatment only helps the person to live up to that age in a comparatively better way.