What is Bloom syndrome?
This is a rare autosomal recessive disorder, also called a genetic disorder. It is also known as Bloom-Torre-Machacek Syndrome. It is commonly found among the Ashkenazi Jewish people who live in Eastern and Central Europe. It was discovered in 1954 by Dr. David Bloom, a dermatologist, for whom the disorder is named after.
Bloom Syndrome Symptoms
- They have skin rashes that develop at an early age and when exposed to the sun the rashes become aggravated
- These rashes have a redness that is caused by the congestion and dilation of the blood capillaries, which is a condition that is prevalent with this syndrome
- You may have red blotches which are caused by the blood capillaries undergoing dilation that is permanent
- The blotches will spread across the bridge of your nose in the shape of a butterfly pattern.
- The rashes may also appear on other areas of your body that have been exposed to the sun such as the back of your hands, neck, etc.
Causes
The cause of Bloom syndrome is a mutation in the gene called BLM. This is the gene that will normally govern recombination during cell division but in people with Bloom syndrome there is a malfunction. The malfunction causes a person to experience chromosomal breakage and rearrangement. This can cause many different complications. One complication is their abnormal short statue, or stunted growth. What happens is that sometimes during abnormal cell division it can also result in frequent cell death which is what causes them to have stunted growth. It is inherited through autosomal recessive pattern. What this means is that both parents must be a carrier in order for the child to have Bloom syndrome.
Treatment
The underlying causes of this syndrome cannot be treated so any medical intervention is just for preventative measures. Treatment will usually involve treating the secondary diseases that Bloom syndrome causes like pneumonia and ear infections which will normally be treated with antibiotics. When they have cancer it is treated as cancer would be normally treated with one exception. Because of the sensitive state of the cells there will be a reduced dosage of radiation or chemicals. The presence of this syndrome also will affect how long a person can undergo radiation or chemotherapy because the hypersensitive cells cannot stand either of these harsh treatments for a long period of time.Treatment can also include taking precautionary measures like having screenings done for different forms of cancer, avoiding exposure to the sun as much as you can, and having periodic check-ups for any signs of malignancy.
Facts
- An estimated one in one hundred Ashkenazi Jewish people carry the gene that causes this syndrome
- When two carriers have a child there is a one in four chance the child will have this syndrome.
- They have birth weight that is low along with a shorter length.
- When they become adults most are less than five feet tall and skinny weighing on average not more than fifty pounds.
- They have an increased risk of cancer and often develop more than one form of cancer with most people with Bloom syndrome having cancer by the age of twenty-five.
- They have a high pitched voice.
- They have distinctive facial features that include a small lower jaw; their face is long and narrow with prominent ears and a big nose.
- Women who have this medical condition generally experience menopause earlier than most women and usually have reduce fertility.
- Most men are not able to produce sperm making them infertile
- Can have complications like ear infections, diabetes, and recurrent pneumonia due to an immune deficiency that ranges from moderate to severe
Life expectancy
The life span varies from person to person who has Bloom syndrome. Some children as young as five years old will develop malignant tumors while there are others who do not develop these malignancies until they are in their teens. Solid tumors develop around the average age of thirty-five. Leukemia will usually show p when they are in their late teens or early twenties. Because most of these tumors do not respond to the different treatments along with the high rate that they occur most people do not live nearly as long as someone who does not have this genetic syndrome but exactly how long will depend on the course of these malignant diseases and what type of cancer care they receive.
