Home Genetic disorders Bloom syndrome: causes, symptoms and treatment

Bloom syndrome: causes, symptoms and treatment

by Alivia Nyhan
Published: Last Updated on

The Bloom syndrome is a rare inherited disease that causes delayed growth pre and postnatal. This genetic disorder has been more prevalent among Ashkenazi Jews, descendants of Jews who settled in Central and Eastern Europe. Some of the symptoms that characterize Bloom Syndrome are short stature, low weight, and sensitivity to sunlight that generates changes in the skin, such as redness. The cause that causes this disease is a series of mutations in a gene whose function is involved in the synthesis of a protein. The disease cannot be treated; however, some of its symptoms, such as respiratory tract, middle ear, or lung infections, can be successfully treated. In this FastlyHeal article, we explain the causes, symptoms, and treatment of Bloom Syndrome.

What causes bloom syndrome

The leading cause of Bloom Syndrome is a disorder in the BLM gene, which intervenes in creating a protein belonging to helicases, a type of vital enzyme in living beings responsible for specific processes, such as duplication and cellular reproduction, transcription, recombination, and DNA repair. In short, its primary function is related to the fact that enzymes can copy the DNA sequence. The disorder interferes in this process, producing a failure in the synthesis of the BLM protein, which leads to replication. The duplication of DNA does not commonly occur, producing mutations. To be passed on genetically, both parents must have the defective gene.

This implies that the parents may have the damaged gene but not have the disease and its symptoms. The disease is inherited when the child receives two mutated genes, one mutated gene from the father and one from the mother.

Symptoms of Bloom Syndrome

The symptoms of Bloom Syndrome are the following:

  • Pre and postnatal growth delay. The disease affects before and after growth, causing short stature and low weight.
  • Different facial features. The face may have a longer or narrower structure, a small jaw.
  • Critical voice.
  • Big nose and ears.
  • Hypersensitivity to sunlight.
  • Coloring of the skin of the face due to the dilation of the blood vessels in the nose and cheeks, which can also be seen in the hands and arms.
  • Intestinal reflux generates infections in the upper respiratory tract, middle ear, and lungs. This is caused by immunodeficiency, so their defenses do not act normally.
  • Infertility in men due to lack of sperm production.
  • Women are fertile but go through menopause earlier.
  • Increased risk of cancer and diabetes mellitus.

Bloom Syndrome Treatment

Bloom Syndrome cannot be treated. However, some of the symptoms that appear with it can be cured. Lung infections, such as pneumonia and ear infections, can be treated, as is always the case. However, the patient must carry out a follow-up to guarantee good health and avoid the appearance of these ailments. Gastroesophageal reflux, responsible for some of the symptoms of the disease, is also treated. Similarly, cancer or diabetes mellitus is treated the same way as the general population.

Diagnosis of Bloom Syndrome

Prenatal diagnosis can be carried out through amniocentesis. Amniocentesis consists of a procedure that allows a small amount of fluid to be extracted from the placenta where the baby can analyze the child’s DNA and detect the presence of the two mutated genes. First, an ultrasound is performed to see the baby’s position inside the tummy, and then a numbing medicine is administered so that the needle is not felt in the belly.
On the other hand, fetal biometrics allows a statistical study to be carried out on the growth process of the fetus to detect possible anomalies in it that could alert to the presence of Bloom Syndrome. Only a fetal ultrasound is performed that allows the image to be analyzed and the development of the fetus observed.

This article is merely informative. At FastlyHeal .com, we do not have the power to prescribe medical treatments or make any diagnosis. We invite you to see a doctor in the case of presenting any condition or discomfort.

If you want to read more articles similar to Bloom Syndrome: causes, symptoms, and treatment, we recommend that you enter our Genetic Disorders category.

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