Bloom syndrome, also known as congenital telangiectatic erythema, is a rare genetic disorder that is characterised by immunodeficiency, telangiectasias (small, widened bloodthe red bodily fluid that transports oxygen and other nutrients around the body vessels) on the skin, short stature, photosensitivity and a predisposition to malignancy (cancera disease where abnormal cells split without control and spread to other nearby body tissue and/or organs). It is classified as a type of chromosomal instability syndrome, which is a group of diseases characterised by spontaneous chromosomal breakage, immunodeficiency and predisposition to cancer.
Familial cancer syndromes, also known as hereditary cancer syndromes, are rare conditions that cause an increased riskthe possibility that something bad will happen of cancer as the result of inherited genetic mutations in certain cancer-related genes. They can affect both adults and children, however they generally develop in people at a younger age than normal. While familial cancer syndromes are not classified as cancer, they are equally as severe and can be life-threatening as they are associated with the development of various tumours throughout the body. Having a familial cancer syndrome does not guarantee the development of cancer, however the risk of developing cancer is higher than those who do not have a familial cancer syndrome.
Bloom syndrome is slightly more common in males, and tends to be diagnosed around the age of 25. However, anyone can develop this disease.
Bloom Syndrome Related Tumours
Bloom syndrome is most commonly associated with the development of haematological cancers such as lymphomacancers of the lymphatic system and leukaemiacancer of blood and/or blood forming tissues, however it has also been linked to other types of tumours. Some examples include:
- Lymphoma.
- Leukaemia.
Treatment
When cancers are detected, they are staged and graded based on size, metastasiswhen the cancer has spread to other parts of the body, also known as mets, and how the cancer cellsthe basic structural and functional unit of all living things look under the microscope. Stagingthe process of determining how big the cancer is, where it started and if it has spread to other areas and grading helps your doctors determine the best treatment for you. However, each patient with Bloom syndrome will present with a unique disease behaviour, with varying tumoura tissue mass that forms from groups of unhealthy cells locations and symptoms. As such, there is no one treatment method that will work for everyone, and there is no standard staging system for this disease. Instead of staging and grading, your doctor will recommend a treatment plan based on the following factors:
- Type of tumours present.
- Whether the tumours are malignantcancerous, may grow and spread to other areas of the body (cancerous) or benignnot cancerous, can grow but will not spread to other body parts (non-cancerous).
- Tumour location.
- Whether or not malignant tumours have metastasised.
- Your age.
- General health.
- Your treatment preferences.
Your doctor may also recommend genetic testinga procedure that analyses DNA to identify changes in genes, chromosomes and proteins, which can be used to analyse tumour DNA to help determine which treatment has the greatest chance of success, which analyses your tumour DNA and can help determine which treatment has the greatest chance of success. They will then discuss the most appropriate treatment option for you.
Treatment options for tumours associated with Bloom syndrome may include:
- Surgerytreatment involving removal of cancerous tissue and/or tumours and a margin of healthy tissue around it to reduce recurrence to remove as much of the tumour(s) as possible – will vary based on tumour location.
- Chemotherapya cancer treatment that uses drugs to kill or slow the growth of cancer cells, while minimising damage to healthy cells (limited).
- Hormone therapymedication that alters the levels of certain hormones in the body, such as oestrogen and progesterone (limited).
- Stem cell transplanta procedure that involves replacing unhealthy blood-forming cells (stem cells) with healthy stem cells.
- Bone marrow transplanta procedure that involves replacing unhealthy bone marrow with healthy bone marrow.
- Clinical trialsresearch studies performed to test new treatments, tests or procedures and evaluate their effectiveness on various diseases.
- Palliative carea variety of practices and exercises used to provide pain relief and improve quality of life without curing the disease.
Cancer Screening
Once a diagnosisthe process of identifying a disease based on signs and symptoms, patient history and medical test results of Bloom syndrome has been confirmed, implementing a targeted screeningtesting for cancer or conditions that can lead to cancer before symptoms appear, also known as cancer screening plan becomes essential due to the increased risk of developing certain cancers. The content of this plan will vary from person to person based on the genetic mutation involved, your family’s history of cancer and the types of cancers that may be present. It will also outline the routine tests you should have and how regularly you should have them. Some recommendations for Bloom syndrome may include:
- Abdominal ultrasounds every three months every three months until eight years old.
- Annual glucose, haemoglobin A1c (HbA1c), thyroid stimulating hormonea chemical substance produced by glands in the endocrine system that regulates various functions in the body (TSH) and lipid profile blood teststesting done to measure the levels of certain substances in the blood.
- Annual skin examinations.
- Screening and family education regarding signs and symptoms of leukaemia and lymphoma at every health visit.
- Whole-body MRI every 1-2 years starting around age 12.
- Annual colonoscopyan examination of the large intestine/bowel with a small, flexible instrument known as a colonoscope starting at age 10-12.
- Faecal immunochemical testing every six months starting at age 10-12.
- Annual breast MRI in females starting at age 18.
Screening options for Bloom syndrome may evolve as new technologies are developed and our understanding of the condition grows. It is essential to discuss your individual circumstances with your healthcare team to determine the most appropriate screening plan for you.
Risk factors
Bloom syndrome is caused by a genetic mutation of the BLM gene, which helps maintain DNA stability during DNA replication. It is an autosomal recessive disorder, which means that you have to inherit one gene with the mutation from both parents in order to develop the condition. If both of parents carry the gene, there is a one in four chance of a child having the condition.
Symptoms
The symptoms of Bloom syndrome often vary by the type(s) of tumours present. General symptoms of Bloom syndrome may include:
- Proportionate small stature.
- Microcephaly (abnormally small head).
- Lack of body fat.
- Relatively large protruding ears.
- Long limbs (especially arms) in proportion to body length.
- Abnormally large hands and/or feet.
- High-pitched voice.
- Cheilitis (swelling of lips), often with crusting and/or bleeding.
- Photosensitivity.
- Telangiectasiasmall, widened, red/purple blood vessels that are visible on the surface of the skin, also known as spider veins (small, widened blood vessels), most commonly on the skin or the eyes.
- Café-au-lait spots or hypopigmented skin lesions.
- Facial anomalies.
- Sun-sensitive facial erythema (red rash).
- Infertility in males.
- Severely impaired fertility in females.
- Immunodeficiency.
- Increased susceptibility to ear, respiratory and gastrointestinal infections.
- Type 2 diabetes.
- Hypothyroidisma condition that occurs when the thyroid doesn't produce enough thyroid hormones, also known as underactive thyroid.
Symptoms related to specific tumours can be found on our knowledgebase.
Not everyone with the symptoms above will have cancer, but see your general practitioner (GP) if you are concerned.
Diagnosis
If your doctor suspects you have tumours associated with Bloom syndrome, they may order some of the following tests to confirm the diagnosis and refer you to a specialist for treatment. The tests required for diagnosis will often vary based on the symptoms present, and where the tumour(s) are suspected to be located.
- Physical examinationan examination of your current symptoms, affected area(s) and overall medical history.
- Genetic testing.
- Blood tests.
- Imagingtests that create detailed images of areas inside the body tests, potentially including:
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- MRI (magnetic resonance imaging)a type of medical imaging that uses radiowaves, a strong magnet and computer technology to create detailed images of the body.
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- Ultrasounda type of medical imaging that uses soundwaves to create detailed images of the body .
- Lumbar puncturea procedure that involves inserting a needle between two vertebrae in the lower spine and extracting a sample of cerebrospinal fluid (CSF) for analysis.
- Bone marrow aspirationa procedure that involves inserting a needle into the hipbone (or the breastbone in some cases) to remove samples of solid and liquid bone marrow.
- Exploratory surgerya surgical procedure used for conditions that cannot be confirmed by scans and tests alone.
- Biopsyremoval of a section of tissue to analyse for cancer cells.