Diseases

Bloom Syndrome – Causes, Symptoms & Treatment

Bloom Syndrome

Bloom syndrome is a very rare, genetically inherited disease. It is characterized by increased genetic instability. Patients are short and more likely to develop cancer. Due to the increased vascular markings in the tumors, Bloom syndrome is also called telangiectatic syndrome .

What is Bloom Syndrome?

Bloom syndrome belongs to the group of chromosome breakage syndromes. Many different clinical symptoms result from dysregulation of enzymes that replicate and repair DNA. Due to faulty repair mechanisms, (spontaneous) mutations accumulate in the genes.

The increased mutation rate represents an increased susceptibility to cancer . Also characteristic are prenatal and postnatal growth disorders, reduced subcutaneous fatty tissue, and light-sensitive skin that tends to redden and become inflamed .

Bloom syndrome is inherited in an autosomal recessive manner. This means that both parents must be carriers of the diseased gene for your child to be clinically conspicuous. Statistically, the probability that the child will fall ill is 25 percent. A total of 300 cases are currently described. However, Ashkenazi Jews have an increased risk of Bloom syndrome.

causes

Bloom syndrome is caused by a mutation in the BLM gene. This gene is responsible for making proteins such as the RecQ helicases. Helicases are enzymes that split the DNA double strands into two single strands. This process is necessary to allow replication (doubling of DNA).

A second so-called sister chromosome develops from one chromosome. During the replication of the DNA, the BLM protein checks the sister chromosome for errors and initiates corrections. If the gene or the protein is defective, mutations often remain undetected and can cause major damage in the organism. Common changes in the genome are nucleotide insertion/deletion and non-sense mutations.

Symptoms, Ailments & Signs

Patients are often proportionally short in stature and have an altered shape of the skull bones. This is already evident during pregnancy. Newborns, infants and young children have a decreased appetite. A possible cause for this could be the frequent gastroesophageal reflux , also called heartburn. In addition, Bloom syndrome patients are prone to middle ear infections , pneumonia and aspiration of stomach contents.

Babies’ skin is often normal at birth. With increasing sun exposure in the first year of life, the tendency to form red, inflammatory skin lesions increases. The nose, cheeks, back of the hand and forearm are particularly affected. In addition, there are frequent café-au-lait spots, benign light-brown skin spots.

Unlike women, men are often infertile . Eleven women have become pregnant despite the disease and have given birth to at least one healthy child. The intelligence of patients with Bloom syndrome is usually not reduced.

Diagnosis & History

The diagnosis of Bloom syndrome is considered when the following findings are present:

  • an unexplained short stature already during pregnancy that persists into adulthood or
  • a significant short stature and reddish skin lesions on the face after sun exposure or
  • a significant short stature associated with neonatal cancer.

genetic test is always used to confirm the diagnosis. Here, a single gene can be examined if there is a suspicion, or several genes can be examined. The diagnosis is confirmed when a patient has two pathological changes in the region of the BLM gene. This test can be carried out before birth as part of prenatal diagnostics .

As the disease progresses, narrowing of the ureter often occurs in men. Chronic obstructive pulmonary disease (COPD) has resulted in death in some patients. Diabetes mellitus was diagnosed in about 50 patients, but mostly without complications.

Some patients developed leukemia that was controlled with chemotherapy and radiation therapy . Cancer is the most common clinical complication. It is the leading cause of death in Bloom syndrome. Most patients developed lymphoma, a cancer of the lymphatic system. Various types of skin cancer are also common. A total of 207 out of 300 patients developed cancer.

complications

Unfortunately, there is no therapy for Bloom syndrome, which is why some symptoms and complications can occur as the disease progresses. In most cases, Bloom syndrome causes short stature. This has a negative effect on the quality of life and can lead to psychological problems and depression. Short stature can also lead to teasing in children.

There are also malformations and deformations of the skull, which, however, do not have a negative impact on life. The disease also leads to a greatly increased sensitivity to the sun, which can lead to hypopigmentation. The affected person has to apply more sunscreen to prevent tumors from developing on the skin.

However, the hypopigmentation does not lead to further complications. Due to Bloom syndrome, the patient has an increased susceptibility to infections due to a weakened immune system. Those affected often develop inflammation and infections, which would not lead to illness in healthy people. The immunodeficiency leads to a reduced life expectancy. Likewise, leukemia can occur in the course of life, leading to pain and severe limitations in everyday life.

When should you go to the doctor?

In most cases, the symptoms of Bloom syndrome appear relatively early in the affected person’s childhood. A doctor should be consulted immediately as patients with this syndrome may be more likely to develop cancer. Regular check-ups are also necessary.

A doctor should be consulted when patients suffer from short stature. Altered bones in the skull or reflux disease can also indicate Bloom syndrome and should be examined. Furthermore, constant inflammation in the ears or pneumonia can indicate this syndrome and must also be examined. Patients also suffer from skin lesions from sun exposure, which also need to be treated to prevent skin cancer. The infertility of patients with Bloom syndrome usually cannot be treated.

Diagnosis of the syndrome is made by a pediatrician or general practitioner. However, further treatment is carried out by the respective specialist. The sooner treatment of the syndrome begins, the longer the patient’s life expectancy.

Treatment & Therapy

A curative, i.e. healing therapy, is currently not available. Approaches for this would be gene therapies . Rather, the therapy consists in the prevention of complications. A thorough physical examination is necessary and complications can be identified and treated early. Gastroesophageal reflux treated with a proton pump inhibitor such as pantoprazole.

Regular checks of blood sugar levels could prevent diabetes mellitus or reduce the complications of diabetes mellitus. To check the immune system, immunoglobulin concentrations are measured in the blood plasma. Men should have regular urological examinations.

Patients under 20 should be screened regularly for leukemia . Colon cancer should also be searched for, as this is the most common solid tumor in humans. At least one colonoscopy should be done every year. The stool should be tested for blood two to four times a year.

Psychosocial care for the patient and family is also important. A serious, chronic disease is not only a burden for the patient, but also for their relatives. Joint discussions promote the relationship and increase the success of the therapy.

Outlook & Forecast

With the current medical and scientific possibilities, Bloom syndrome cannot be cured. Therefore, the prognosis for this disease is classified as unfavorable. So far, the gene mutation cannot be cured with the available therapy options. For legal reasons, an intervention in human genetics is not permitted. This reduces the chance of a permanent cure.

The treatment of Bloom syndrome is aimed in particular at reducing the accompanying symptoms. In addition, various check-ups are offered, which are used for a timely diagnosis of possible tissue changes. Bloom syndrome causes patients to suffer more frequently from tumor diseases with a malignant course. Young people in particular are affected and should have appropriate tests carried out at regular intervals.

Even if the condition cannot be cured, there are ways in which the general well-being of the patient can be improved. Relaxation techniques , psychotherapeutic support and a healthy lifestyle help to strengthen the organism and build up courage.

This is helpful to be able to deal better with the disease in everyday life and to have enough resources when the after-effects of Bloom syndrome arise. With a strengthened and stable immune system, the patient is better able to mobilize the necessary defenses and reduce the healing path in the event of further illnesses.

prevention

Genetic counseling and screening can help families determine if they are at risk for a genetic, inherited condition. In addition to an educational discussion, genome studies take place. The results can help families plan their family planning better.

A healthy, active lifestyle is recommended to reduce the risk of spontaneous mutations. Smoking and an unhealthy diet should be avoided as these increase the likelihood of a mutation. Late pregnancies always have an increased risk of a genetic disease in the child.

aftercare

The rarely occurring congenital telangiectatic syndrome belongs to the chromosome breakage syndromes. For this reason and because of the serious damage, treatment and aftercare are made more difficult. It remains to be hoped that gene therapy will be able to anticipate such damage before birth in the future.

The options for aftercare usually relate to individual symptoms or consequential damage of Bloom’s syndrome. Rather, preventive measures are important, since patients with Bloom syndrome often develop cancer due to the associated gene mutations. In addition, thanks to the high susceptibility to infection, both preventive care in the form of antibiotic prophylaxis and a subsequent build-up of the intestinal flora for the purpose of better immune activity may be necessary.

In the case of frequently occurring problems such as reflux syndrome, acute middle ear or pneumonia, something can be done with follow-up care. The high sensitivity to light, which leads to various types of skin damage, can also be treated dermatologically in aftercare. However, prevention is also necessary as there is an increased tendency to develop skin cancer. If this is operated on, wound care in the aftercare is just as important as regular checks for new skin cancer foci.

Compared to live vaccines, there is limited usability in Bloom syndrome. Here, too, prevention against certain illnesses such as influenza is more important than any follow-up care. If a preventable disease does break out because of the problems with live vaccines, follow-up care is unavoidable. It depends on the type and severity of the disease.

You can do that yourself

The Bloom syndrome cannot be treated causally so far. Therapy focuses on relieving the symptoms and discomfort. However, patients suffering from the disease can take some measures to support medical treatment and positively influence the healing process.

First of all, with Bloom syndrome, a specialist doctor should be consulted. Since the disease can manifest itself in different ways and often takes very different courses, professional advice is required. Several examinations are usually necessary, which is why the patient should take appropriate precautions for a longer stay in the hospital.

After the therapy has been determined, the patient should rest. To strengthen the immune system , moderate physical exercise makes sense. A healthy diet reduces the risk of secondary diseases and improves well-being.

Patients under the age of 20 should have regular check-ups. Since there is an increased risk of leukemia or colon cancer, attention should be paid to noticeable symptoms in these areas. If, for example, an unspecific pressure pain occurs in the gastrointestinal tract, this must be clarified. Psychological care of the patient and his relatives is also important .

A serious illness represents an enormous burden for those affected, which must be dealt with. Discussions together improve the mental state of the patient and often have a positive effect on the course of the disease.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.