Bloom syndrome (Bloom-Torre-Machacek syndrome) is a rare genetic disorder inherited from two recessive traits, first recognized and described by Dr. David Bloom. Infected persons exhibit chromosomes that break and re-arrange often, resulting in cases of cancer early in life. As a result, individuals suffering from this syndrome have a short life expectancy.
Bloom syndrome develops as a result of mutation of BLM gene. The gene is responsible for governing recombination during cell division. However, for patients suffering from the syndrome, there is a malfunction of this particular gene.
The defect causes chromosomal breakage and rearrangement leading to various complications such as stunted growth and abnormal short stature. Frequent cell death also causes the stunted growth during abnormal cell division.
Children inherit the Bloom syndrome in an autosomal recessive pattern.
People with Bloom syndrome develop skin rashes at an early age. The rashes appear on the body parts exposed to the sun including hands, neck, and face. The spots increase when exposed to the sun.
A common symptom is the redness of the rashes developing as a result of congestion and dilation of blood capillaries.
Also, patients may develop red blotches as a result of permanent dilation of the blood capillaries. The blotches that have a butterfly pattern appear across the bridge of one's nose.
Persons with this syndrome also exhibit distinct facial features that include small lower jaw, long and narrow face, and prominent ears and big nose.
Another symptom is the high-pitched voice of people suffering from this syndrome.
Bloom syndrome's patients normally have numerous complications such as diabetes, ear infections, and recurrent pneumonia. They develop pneumonia as a result of immune deficiency ranging from moderate to severe.
Doctors identify the bloom syndrome using a chromosome study. The study couples extensive medical history and visual features. Normally, children born to a set of recessive parents have a 25% chance of contracting the syndrome.
So far, the cure for the syndrome is not known since the underlying causes are not treatable. Hence medical intervention focuses on preventative measures.
Also, treatment aims at treating secondary diseases caused by the syndrome including ear infections, cancer, and pneumonia. Medical experts treat the secondary illnesses in the usual way. However, when it comes to cancer, there is an exception. Patients undergo a reduced dosage of chemicals or radiation due to the sensitivity nature of their cells.
The hypersensitive cells of patients with Bloom syndrome also affect how long they can undergo chemotherapy and radiation. Their cells typically do not stand harsh treatments for extended periods of time.
Due to the potential complications associated with the syndrome, treatment involves taking precautionary measures. The measures include frequent screenings for the different forms of cancer, regular check-ups for any signs of malignancy and avoiding skin's exposure to the sun.
Although the lifespan of individuals with Bloom syndrome varies, generally, they have a shortened life expectancy of about 27 years. The primary cause of premature death is cancer. Cancer may develop as one type but progresses to different types of cancer thus increasing the risk of early death. Although some suffer from cancer right from childhood, for most patients, cancer develops at late teenage age, early or mid-20s.
However, early diagnosis and administration of proper treatment extend their lifespan.
Nonetheless, despite persons with Bloom syndrome facing numerous complications, they lead productive lives. Such individuals are either normal or have near-normal intelligence. Most men suffering from the Bloom syndrome remain infertile due to inability to produce sperm. Conversely, it is on record that some women with this syndrome have given birth to healthy children.
Bloom syndrome is a very rare disease. The disease appears commonly among the Ashkenazi Jewish population. Since its diagnosis in 1954, there is a report of only 170 cases of Bloom syndrome. It is believed that about 33% of all the cases are among the Ashkenazi population. Also, estimates show that one in every 100 of Ashkenazi people is a carrier of the recessive gene.