Diseases of the Blood Congenital aplastic anaemia
Fanconi Anaemia (FA)
Rare Disease Classifications:
IMPORTANT INFORMATION
The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.
Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.
For more information on this disease, please refer to Fanconi Anaemia Support Australasia.1
If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.
Contributors
This page has been co-developed with RVA Partner, Fanconi Anaemia Support Australasia.1
Quick Page Search:
Emergency Management | Clinical Care Guidelines | Synonyms | Summary | Personal Stories | Symptoms | Cause/Inheritance | Diagnosis | Treatment | Clinical Care | Research | Rare Disease Organisation(s) | Support Services/Resources | Mental Health | Other | References
Emergency Management
There may be special considerations for the emergency management of individuals living with Fanconi anaemia (FA) presenting to emergency departments.
A detailed medical history should be taken, as symptoms and presentation of FA can vary widely between individuals and FA can affect many organ systems of the body.1
Magnetic resonance imaging (MRI) and ultrasounds may be preferred over imaging techniques that involves radiation, such as X-rays and CT (computed tomography) scans, except when necessary during emergencies or when no better alternatives are available.1
Clinical Care Guidelines
The Fanconi Anemia Clinical Care Guidelines is a publication of the Fanconi Cancer Foundation, United States. Authors that have contributed to this publication include physicians and clinical care providers with expertise in treating patients with FA.
Synonyms
Fanconi pancytopenia
Summary
Fanconi anaemia (FA) is a type of Bone Marrow Failure Syndrome. It is a genetic condition and is caused by loss of ability to repair certain types of DNA damage that can occur in cells of a person’s body.2 This is due to genetic changes in one of more than 20 different genes associated with DNA repair pathway in cells.1-3 It can result in accumulation of DNA damage in the genome, chromosomal instability and breakage, and abnormal cell growth. Individuals with FA may be born with certain physical abnormalities and often have progressive depletion of blood cells (pancytopenia) with bone marrow failure as well as increased risk of cancer.3,4 FA can affect many organ systems of the body, and the symptoms and severity can vary widely between individuals.1
FA affects both males and females5 and may be diagnosed during childhood or adulthood.1 It should be noted that FA is a different condition from Fanconi syndrome (a kidney disorder) and Fanconi-Bickel syndrome (a glycogen storage disorder).5,6
Useful Links for Professionals
Personal Stories
Fanconi anaemia (FA) varies between individuals, and each person’s experience is unique.
Symptoms
Fanconi anaemia (FA) is typically characterised by physical abnormalities that are often present from birth, progressive depletion of blood cells (pancytopenia) with bone marrow failure and an increased risk of certain types of cancer.3,4 These characteristics may not be present in all individuals with FA.3
The physical abnormalities that have been associated with FA include short stature, small undeveloped head size (microcephaly), abnormally small undeveloped eyes (microphthalmia), skin pigmentation and skeletal defects affecting the limbs, hips, or ribs.2-6 There may also be structural issues with the kidney, heart, and genitourinary (reproductive and urinary) system affecting fertility.2-7
Individuals with FA often have enlarged red blood cells (macrocytosis) and bone marrow failure (BMF), which is when the bone marrow does not make enough blood cells.2,3 This results in low red blood cells (anemia), low platelet levels (thrombocytopenia) as well as low counts of white blood cells like leukocytes (leukopenia) and neutrophils (neutropenia). This can cause frequent infections, and excessive bruising and bleeding.5
There is a higher risk of developing cancers such as acute myeloid leukemia and solid tumours particularly in the head and neck, skin and genitourinary area.2-6
Please speak to your medical team to learn more about the symptoms of FA. More information can also be found at Fanconi Anemia Clinical Care Guidelines.
Cause/Inheritance
Fanconi anaemia (FA) is caused by genetic changes in specific genes that are associated with the DNA repair pathway in cells.2 More than 20 different genes have been identified to cause FA.2,3 Genetic changes in either the FANCA, FANCC or FANCG genes are responsible for most cases of FA.3,5 Please visit GeneReviews®: Fanconi Anemia (Diagnosis) for more information about the different causal genes for FA.
Most FA conditions are inherited in an autosomal recessive manner. Autosomal dominant inheritance and X-linked inheritance have also been observed for some types of FA.3-5
The following factsheets may be useful for understanding the inheritance pattern of a particular type of FA:
Autosomal recessive inheritance (NSW Government’s Health Centre for Genetics Education)
Autosomal dominant inheritance (NSW Government’s Health Centre for Genetics Education)
X-linked recessive inheritance (NSW Government’s Health Centre for Genetics Education)
If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information on genetic counselling can be found on the National Services page and specific State and Territory Services pages on the RARE Portal.
Diagnosis
Fanconi anaemia (FA) may be diagnosed through physical examination identifying characteristic symptoms of FA, blood tests to look at blood cell levels, and confirmed through cytogenetic testing to look for chromosomal breakage and testing for genetic changes in FA genes.2,3,5
Imaging studies may be performed to look for skeletal and internal structural abnormalities associated with FA.2,3,5
FA may be diagnosed in children and adults.1 It is recommended that a FA diagnosis is considered in individuals that present with:1,3
- Progressive bone marrow failure
- Aplastic anemia
- Myelodysplastic syndrome (MDS)
- Acute myelogenous leukemia (AML)
- Solid tumours such as squamous cell carcinoma of the head, neck, throat (oesophagus) and external female genitalia (vulva), as well as cancer of the cervix and liver
- Severe reactions/toxicity to chemotherapy and radiation treatment
Treatment
Treatment for Fanconi anaemia (FA) is targeted at managing the various symptoms and complications and often requires a multidisciplinary medical team, particularly as multiple organs may be affected.1-3 This may include, but is not limited to, therapies to manage blood cell levels, bone marrow transplant, surgery to treat structural abnormalities and cancer treatment. It is best to speak with your medical team to learn more about the available and suitable treatment strategies for specific symptoms and complications of FA.
Recommendations for individuals with FA:1-3
- Avoid smoking as well as second-hand smoke, alcohol, excessive sun exposure and other carcinogenic agents that may increase the risk of chromosomal breakage
- Use of imaging techniques that involves radiation, such as X-rays and CT (computed tomography) scans, may be less ideal, unless when no better alternatives are available. Magnetic resonance imaging (MRI) and ultrasounds may be preferred as a diagnostic tool
- Human papilloma virus (HPV) vaccination to reduce the risk of developing HPV-related cancers
- Assessment and regular monitoring for bone marrow failure and cancer
Clinical Care
Healthcare professionals involved in the treatment of Fanconi anaemia (FA) may include general practitioners (GP), paediatricians, geneticists, haematologists, oncologists, cardiologists, nephrologists, urologists, gastroenterologists, dermatologists, endocrinologists, neurologists, surgeons, ophthalmologists, otolaryngologists, psychologists/ counsellors, and family support workers .1,3,5,7 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.
Clinical Services
Fanconi Anaemia Clinic
The Children’s Hospital at Westmead
New South Wales
Website: https://www.schn.health.nsw.gov.au/fanconi-anaemia-childrens-hospital-westmead
Research
Fanconi Anaemia Support Australasia: FA Research has information on Fanconi anaemia (FA) research in Australia.
Please visit Australian Clinical Trials to learn about clinical trials for FA in Australia; there may not be any clinical trials currently available.
Information regarding clinical trials for FA in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.
It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.
Rare Disease Organisation(s)
Fanconi Anaemia Support Australasia (FASA) RVA Partner Australian Organisation
Website: https://fasa.org.au
Contact form: https://fasa.org.au/contact/
FASA aims to bring together people and families affected by FA in Australia, New Zealand and beyond by creating opportunities for connection through camps, family meetings, social media and through the incredible bond which is created when two or more gather with such a rare disease.
Maddie Riewoldt’s VisionRVA Partner Australian Organisation
Website: https://www.mrv.org.au/
Contact form: https://www.mrv.org.au/contact/
Maddie Riewoldt’s Vision funds research that accelerates next generation prevention, diagnosis and treatment of Bone Marrow Failure Syndromes, while supporting patients and families.
Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.
Support Services/Resources
Fanconi Anaemia Support Australasia (FASA) organises meetings for people with Fanconi anaemia (FA). More information about these meetings can be found at Fanconi Anaemia Support Australasia: Family Meeting.
Maddie Riewoldt’s Vision offers a Telehealth Nurse Service that provides support and education for Australians with Bone Marrow Failure Syndrome.
For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.
Mental Health
Please visit the ‘Mental Health’ sections listed on the National and State Services pages.
Other
Further information on Fanconi anaemia (FA) can be found at:
- Fanconi Anaemia Support Australasia: Resources
- Genetic and Rare Diseases (GARD) Information Center: Fanconi anemia
- National Organization for Rare Disorders (NORD): Fanconi Anemia
References
- Fanconi Anaemia Support Australasia. Accessed 19 March 2024. https://fasa.org.au/
- Sroka I, Frohnmayer L, Van Ravenhorst S, Wirkkula L, eds. Fanconi Anemia Clinical Care Guidelines. Fifth Edition. [internet]. Fanconi Anemia Research Fund. 2020. Accessed 20 March 2024. https://www.fanconi.org/images/uploads/other/Fanconi_Anemia_Clinical_Care_Guidelines_5thEdition_web.pdf
- Mehta PA, Ebens C. Cystic Fibrosis. 2002. Updated 3 June 2021. In: Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews® [internet]. Seattle (WA): University of Washington Seattle. 1993–2023. Accessed 19 March 2024. https://www.ncbi.nlm.nih.gov/books/NBK1401/
- Fanconi anemia. Accessed 19 March 2024. https://www.orpha.net/en/disease/detail/84
- National Organization for Rare Disorders (NORD). Fanconi Anemia. Accessed 19 March 2024.https://rarediseases.org/rare-diseases/fanconi-anemia/
- Moreno OM, Paredes AC, Suarez-Obando F, Rojas A. An update on Fanconi anemia: Clinical, cytogenetic and molecular approaches (Review). Biomed. Rep.2021;15(3):74. https://doi.org/10.3892/br.2021.1450
- Genetic and Rare Diseases (GARD) Information Center. Fanconi anemia. Accessed 19 March 2024. https://rarediseases.info.nih.gov/diseases/6425/fanconi-anemia
Page Last Updated
29/07/2024 16:20
