Bloom's Syndrome - A Rare Disease

Bloom's Syndrome is a rare disease. The main cause of Bloom's Syndrome is mutations in the BLM genes of affected persons. As such it is a hereditary disorder. It is incurable and death occurs mostly due to cancer.

The disease is characterized by short stature and a skin which is highly sensitive to sunlight. Bloom’s syndrome is categorized as a rare disease. Often rashes are seen on the affected part, mainly back of hands, bridge of nose and cheeks. There are also other features in this disease such as long and narrow face with nose and ears which are quite prominent. The skin problems vary in their severity as they are not so prominent in mild cases, but prominent among the severe ones. The person affected by this disease has no problems with his intelligence capabilities, but various other problems are often seen such as infertility in men and reduction of fertility in women. These persons are immune to respiratory tract infections and ear infections. It has been found that 10% of the persons affected by Bloom’s Syndrome are at risk of procuring diabetes. Lastly, a person with Bloom’s Syndrome is at a greater risk of cancer than a normal person. As said earlier, it is a rare disease. The ratio of its occurrence is 1 in 7,000,000 people. But studies have shown that Bloom’s Syndrome has a much higher rate of 1 in 60,000 people in case of Ashkenazi Jewish (Eastern European Jewish) population.

Causes of Bloom’s Syndrome – The main cause of Bloom’s Syndrome is due to a mutation in the BLM gene, a gene of the DNA helicase family. This mutation causes the inactivation of the BLM protein which is needed to stabilize the DNA process and chromosomes. There are 60 different mutations seen in a Bloom’s Syndrome patient that can cause serious diseases. As such Bloom’s Syndrome is a genetic disorder and can be carried on to the offsprings also. There are 25% chances of a child being affected by Bloom’s Syndrome if both the parents are carriers or are affected by the disease.

Symptoms of Bloom’s Syndrome – The main symptoms of persons affected by Bloom’s Syndrome are short stature. These persons rarely grow about 5 feet in height in their entire life. Secondly, one can find butterfly shaped lesions on the bridge of nose. The skin of these people is very sensitive to sunlight. Other symptoms present may be a narrow, triangular shaped face, small jaw, protruding ears and prominent nose. The voice can be squeaky and respiratory infections are common.

Bloom’s Syndrome & Cancer – These two diseases are interlinked together. Every Bloom’s Syndrome affected person has a tendency to acquire cancer (both benign and malignant) tumors at a very tender age. Lymphomas, Leukemias and Carcinomas are common and these cause death in most of the affected persons. The main reason for cancer tendencies is the elevated rate of mutations in the genes. Chemotherapy treatment can complicate matters even more due to sensitivity to exposure of rays.

Diagnosis of Bloom’s Syndrome – The testing for abnormal chromosomes is carried out for diagnosis of Bloom’s Syndrome. There is a special kind of study called as Sister Chromatid Exchange (SCE) analysis which consists of testing blood samples of patients suspected of having the disease. These blood samples undergo special process which examines the chromosomes which are seen to be 10% more of SCE. Also a study is carried out to observe changes in the BLM gene. This is done to identify carriers of gene mutations. Prenatal testing and diagnosis is available for couples.

Treatment for Bloom’s Syndrome - Bloom’s Syndrome is incurable. The treatment meted out can only focus to increase the life-span of patients. As the main result of Bloom’s Syndrome is cancer, surveillance of cancer indications is the topmost priority. Sigmoidoscopy & blood tests on routine basis should be carried out. As chemotherapy complicates matter, early surgery is recommended for tumor removal. As respiratory disorders are another cause of concern for patients, any indications of infections related to respiratory disorders should be promptly treated with antibiotics. The bone marrow of these persons should be stored in order for usage at some later stages. As these persons are low in their appetite, nutritious food along with various other high vitamin diets should be given. While going out, the affected persons should cover their exposed parts with clothes and apply sun lotion so as to get protection from sun rays. Treatment by way of giving growth hormones has failed in this disease.

To summarize, it can be said that a Bloom’s Syndrome patient cannot be cured completely. The average life span of a person affected by Bloom’s Syndrome is 23 with a death range of 1 to 48 years. Death usually occurs due to cancer in most of the person. Respiratory disorders are other causes of death.


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