The bloom syndrome is a rather rarely seen autosomal recessive condition that manifests as a short stature, genomic instability and a predilection to malignancy. The BLM gene mutates and this triggers a mutated DNA helicase protein formation and this is solely responsible for the development of bloom syndrome. Bloom syndrome was discovered and defined by dermatologist Dr.
What Causes Bloom Syndrome?
Mutations in the BLM gene are responsible for the Bloom Syndrome (BS). It is an inherited – autosomal recessive pattern, which means that, both copies of the BLM gene in each cell show mutations. Parents of one having an autosomal recessive disorder each have a copy of the mutated gene, however, characteristically they do not display signs of the condition.
The disorder is rare and the frequency of the condition has not been measured in most populations. On the other hand, it is comparatively commoner in people of Central and Eastern European Jewish background. Studies reveal that about 1 in 48,000 Ashkenazi Jews are affected by bloom syndrome, who account for approximately one-third of afflicted people worldwide.
What Are The Symptoms Of Bloom Syndrome?
- The individual has a short stature, the individual is usually smaller than 97 % of the population in both height and weight since birth, and they do not exceed 5 feet in adulthood.
- These individuals are highly sensitive to sun exposure, and develop a butterfly-shaped rash across the nose and cheeks. Other parts of the body which are exposed to the sun, such as the back of the hands and the forearms also develop a red rash. Clusters of enlarged blood vessels appear in the rash. The skin may also show hypo-pigmented or hyper-pigmented patches.
- People with bloom syndrome have an increased risk of cancer. Furthermore, they develop more than one kind of malignancy.
- They have a high-pitched voice and facial features are – a long, narrow face; a small lower jaw; and prominent nose and ears.
- An increased risk of diabetes and chronic obstructive pulmonary disease is another characteristic feature.
- Some develop learning disabilities.
- Increased susceptibility to respiratory tract infections.
- Reduced fertility or infertility is common characteristics too.
Treatment Options For Bloom Syndrome
There is no treatment to stabilize the genome in the cells of one having bloom syndrome, i.e. you cannot remedy the tendency for large numbers of mutations to arise. The chief goal of medical intervention is enhancing growth and development.
- You need to protect your skin from the sun’s UV rays at all times, use suitable head and face covering, and apply sun-blocking lotion.
- Infections need to be treated promptly with antibiotics is advisable to prevent permanent damage.
- Constant tests and investigations are mandatory to rule out the onset of diabetes mellitus and to avoid serious complications.
- Cancer surveillance is a must and must be carried out with the help of a family physician. You need to pay extra attention to seemingly unimportant signs and symptoms which may help in the early diagnosis of tumors, and which can be promptly gotten rid of via surgical excision. Investigations for an early identification of malignancy such as Pap smear, mammography and colonoscopy need to be carried out earlier in life than customary.
- Bone marrow transplantation is beneficial in managing cancer of certain types, hence, the early recognition of a genetically compatible sib as a potential bone marrow donor should be endeavored; what’s more, if non-BS pregnancies do occur, stem cells can be harvested from the placental blood and stored frozen.