Bloom syndrome is a rare disease of genetic origin characterized by high genomic instability, with a high frequency of breaks and rearrangements in the chromosomes of those affected. It was initially described in 1954 by David Bloom and currently more than 100 cases have been described.
The symptoms that characterize the disease range from a higher incidence of cancer at early ages, due to high genomic instability, short stature, telangiectasia (presence of small dilated blood vessels in skin and mucous membranes), presence of hypo and hyperpigmented areas in the skin, susceptibility to infections due to deficiency of certain immunoglobulins, hypogonadism and infertility in men and early menopause in women.
Bloom syndrome is due to the presence of mutations in the BLM gene, which encodes for a protein of the helicase family, involved in DNA repair when copied. Its inheritance pattern is autosomal recessive. The overall prevalence of the disease is unknown, but it is more frequent in the Ashkenazi Jew population.
Currently, there is no cure for the disease. Treatment of the disease depends on the symptoms, including treatment with immunoglobulins for deficiencies, growth hormone, skin protection and/or specific treatments for the cancer cases that may occur.
Due to the high incidence of cancer among patients, life expectancy is significantly decreased.
Gene or region studied