"Bloom Syndrome" – What Is It?
Bloom syndrome is a rare hereditary disease that is associated with an increased risk of cancer. The most striking feature is a growth retardation that begins in the womb and can persist through infancy and childhood into adulthood. A conspicuous reddening of the skin in areas exposed to sunlight, especially on the face, is also typical.
How Is "Bloom Syndrome" Diagnosed?
Typical Characteristics of Bloom Syndrome
Several characteristics are typical of Bloom syndrome. These are in detail:
- Prenatal growth retardation that persists throughout infancy and childhood
- Little subcutaneous fatty tissue
- Short stature
- Hypersensitivity to sunlight
- Reddening of the face (symmetrical = butterfly erythema)
- Immunodeficiency
- Heartburn (gastroesophageal reflux)
- Frequent infections, especially of the upper respiratory tract
- Chronic obstructive respiratory diseases
- Learning disorders/intelligence impairment (not universal)
- Premature loss of ovarian function in women
- Reduced fertility to infertility in men
- Narrowing of the urinary tract in men
- Diabetes (diabetes mellitus type II)
If the following indicative combinations of findings are present, the presence of Bloom syndrome should be considered:
- Unexplained severe prenatal growth retardation that persists through infancy and childhood into adolescence
- Conspicuous growth retardation and reddish skin changes in the facial area after exposure to sunlight (butterfly erythema)
- Significant growth retardation and a tumor diagnosis
Genetic Diagnostics
The diagnosis of Bloom syndrome can be made based on characteristic clinical presentation and confirmed by genetic analysis.
What Is the Risk of Cancer?
The most common tumor diagnoses observed in connection with Bloom syndrome are
- Blood cancer (leukemias: acute lymphoblastic leukemia and acute myeloid leukemia)
- Tumors of the lymphatic tissue (lymphomas)
- Tumors of the gastrointestinal tract (colorectal tumors)
- Soft tissue tumors (sarcomas)
- Tumors of the genital and urinary tract
- Breast cancer
- Kidney tumors (nephroblastomas)
- Brain tumors (medulloblastomas)
- Eye tumors (retinoblastomas)
- Germ cell tumors
Many tumors develop with the same distribution pattern as in the healthy population but at an earlier stage.
What Is Known About the Development of "Bloom Syndrome"?
Structural instability of the genetic information and the associated increased rate of spontaneous mutations, i.e., changes in the genetic information damage the genetic material, which explains the increased tumor risk.
Is There Any Form of Treatment Available?
Treatment is primarily based on the earliest possible diagnosis of precancerous stages and is carried out in accordance with the corresponding therapy recommendation. Due to the increased sensitivity of the cells to ionizing radiation and DNA-damaging substances, the dose and duration of therapy may need to be adjusted.
Diagnosis of " Bloom Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Diagnosis of " Bloom Syndrome" What's Next?
If you have been diagnosed with this cancer predisposition syndrome, it is important to see a specialist. The following section explains whether cancer screening tests or other measures are needed and how they should be carried out. We also give you some valuable tips on what you can do yourself. If you have any questions, please do not hesitate to contact us or your doctor.
Medical Measures for Early Detection
Regular physical examinations to record body growth and the frequency of infections are recommended. An annual laboratory check-up, an annual skin examination, and a six-monthly dental check-up are also recommended.
Evidence-based standards for early detection are lacking, especially in childhood. Below, you will find the consensus recommendations of the American Association for Cancer Research:
Hemato-Oncology
- Medical history and physical examination
- Avoidance of radiation exposure
- Blood count every 3-4 months
- Breast MRI and sonography starting at the age of 18
- Annual colonoscopy starting at the age of 10-12 years
- Stool examination every 6 months
- Kidney ultrasound every 3 months from diagnosis until the age of 8 (examination for nephroblastoma)
- HPV vaccination
Dermatology
- Annual skin examination
- Limited exposure to sunlight!
Pulmonology
- Pulmonary function tests according to clinical need
- Aggressive antibiotic therapy after antibiogram
Gastroenterology/Nutrition
- Basic examination
- Swallowing tests if required
- Nutritional supplementation
Endocrinology
- Annually TSH, T3, T4
- Annual fasting glucose and lipid profile starting at 10 LJ
Orthopedics
- Annual scoliosis examination
Dentistry
- Semi-annual checks
Bloom Syndrome- What You Can Do Yourself
You should pay attention to this
Avoid exposure to sunlight, especially on the face.
Magnetic resonance imaging (MRI) and ultrasound are preferable to X-rays and computer tomography (CT) in diagnostics.
Further Information
- Link to “The Bloom Syndrome Foundation,” you will find many helpful links here
- Link to “European Society for Immunodeficiencies (ESID) Registry Freiburg (ESID Registry)” – Website for clinical studies on the topic
- Link to Bloom’s Syndrome Registry”
Furthermore, Bloom syndrome is being researched in our accompanying projects Liquid Biopsy and ADDRess, so we encourage patients to register for these in addition to the CPS Registry.
Any further questions?
You can reach us by e-mail and telephone. You can also visit us in person during our consultation hours. For further information, please refer to our contact page.
