Bloom Syndrome: an uncommon hereditary condition

Bloom Syndrome is a very rare disease that is autosomal recessive and has a few instances of occurrence overall in the world, with its total being under 300 cases. It is due to mutations in BLM gene that is important in repair of the DNA. This disability causes genome instability, which causes high predisposition to cancer and other health complications.

Important Features and Symptoms

The affected individuals normally portray traits of:

• Growth Deficiencies: Low growth and birth weight.
• Prominent Nose:  Ears and Narrow and wide face.
• Skin File: Sun light sensitivity which results in erythematous telangiectatic eruptions and uneven pigmentation to the skin.
• Medical Complications: Excessive vulnerability to infections, insulin resistance that may cause diabetes, hypothyroidism and chronic obstructive pulmonary disease.
• Cancer Risk: The worst side effect is that risk is a 150-300 times higher risk of various cancers (leukemia, lymphoma, GI cancers) at a young age compared with general population.

Diagnosis and treatment

Bloom Syndrome is incurable. Confirmation can be made by cytogenetic analysis to identify typical breaks and rearrangements of a chromosome. Management is actionless and interdisciplinary that centres on:

• The protection of the Sun and regular skin checks with the dermatologist.
• Vigorous and constant cancer surveillance.
• Early management of infections as well as being able to control endocrine complications such as diabetes and hypothyroidism.

Recent developments in India

Recent medical news in India was a case in Chennai in which a 12 year old girl was successfully given a bone marrow transplant using stem cells removed in a donor stem cell procedure on her younger brother. The intervention presents the increasing sophistication in the country to take care of the multifaceted complexities of the rare disease especially immune deficiencies and the risk of cancer. Though few cases have ever been traced in India this is a major step in accessibility to treatment.