Bloom Syndrome is a hereditary degenerative disease that shows up with symptoms like short stature, deformation in the skull and face, with longer than normal limbs, swelling in the lips, pigmentation in those areas of the skin that are exposed to the sun and a high pitched tone or voice. It can also lead to a variety of gastrointestinal infections, and the patient may be at a higher risk of contracting cancer.
HOW IS BLOOM SYNDROME DIAGNOSED?
The diagnosis of this syndrome is established in a proband with identification of biallelic pathogenic variants in BLM on molecular genetic testing. If molecular genetic testing is inconclusive, it is diagnosed with identification of increased frequency of sister-chromatid exchanges (SCEs) on specialised cytogenetic studies. Molecular testing can include single-gene testing, use of a multi-gene panel, and more comprehensive genomic testing.
HOW IS BLOOM SYNDROME TREATED?
There is no treatment for Bloom syndrome and it can be only by symptomatic and supportive ways. Sunscreens are prescribed by the dermatogists and are advised to avoid direct contact with sunlight. Infections may be treated aggressively with antibiotic drugs. Physicians are consulted for any indications of cancer, especially with patients who reach adulthood.
DID YOU KNOW?
People with Bloom syndrome are prone to cancer. So regular screening is necessary.