What Is Aceruloplasminemia?

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Introduction 

What is aceruloplasminemia? 

Aceruloplasminemia (aceru-lo-plas-mine-mi-a) is a rare genetic condition where our body cannot properly maintain iron. Normally, a protein called ceruloplasmin helps control and maintain the amount of iron in our bodies in a healthy balance. However, in aceruloplasminemia, ceruloplasmin does not work well. This means that the body cannot control the iron level properly, which can cause an iron overload in different parts of our bodies, including the liver, pancreas, and brain. This build-up of iron can lead to various health problems such as diabetes, liver problems, vision changes, and issues with movements.2,3,9

Importance of prompt treatment 

It is important to understand and promptly receive treatment for aceruloplasminemia due to many reasons, including:1,9

  • To prevent more iron build-up
  • To minimise damage to neurological health
  • To ensure organs such as the liver and pancreas are well-maintained
  • To slow the progression of the disease and improve overall well-being

Causes and risk factors

The main cause and risk factor for aceruloplasminemia is genetic. The risk of having aceruloplasminemia is higher if both of your parents have defective ceruloplasmin genes (autosomal recessive). However, even if an individual has this genetic defect, it may not always cause health problems.1,2,14 Please speak to your doctor if you are worried about the condition running in your family or considering having children. 

Symptoms and diagnosis

Common signs and symptoms 

The symptoms can vary across individuals; some may experience milder symptoms, while others may have more severe ones. Most often, the symptoms have been noted in adults aged 20 to 70 years old.1, 2, 11 Signs and symptoms also depend on where the iron is accumulated in the body. The commonly noted are:1,2,4,11,12

  • Trouble with movements such as muscle stiffness, shaking, and unsteady walking
  • Difficulties with clear thinking and memory, such as dementia  
  • Changes in mood, such as anxiety or depression 
  • Pancreas issues which may lead to diabetes (where the body does not produce enough insulin to control the glucose level) 
  • Changes or trouble with vision (retinal degeneration) or hearing 
  • Liver issues
  • Anaemia 

Diagnostic procedures

There are many other conditions, like Wilson’s disease, Parkinson’s disease, and Huntington’s disease, which can show similar signs and symptoms.16,18 Therefore, it is important to get appropriate advice and diagnosis to distinguish and further manage the condition effectively. Aceruloplasminemia is diagnosed by healthcare specialists such as neurologists, geneticists, and surgeons through a combination of tests.1,4,5,11,13

Clinical evaluation 

Your healthcare professional will check your symptoms and any medical conditions you and your family may have. They will also perform a thorough physical examination. 

Blood tests 

Blood tests can be used to check how much iron, copper, and ceruloplasmin are in your body and how your body is using the iron.

Imaging studies

Imaging studies such as magnetic resonance imaging (MRI) or computed tomography (CT) may be used to see if there is any build-up of iron in certain parts of the body, such as the brain, liver, and pancreas. 

Genetic testing

Genetic testing may be recommended to confirm the genetic cause. 

Other tests 

These depend on individual symptoms and presentations to check if the organs are working normally, such as: 

  • Urine tests 
  • Liver function tests 
  • Neurological tests
  • Liver biopsy - a small sample of tissue from the liver will be extracted, and a pathologist will examine this further using a microscope 

Treatment options

There is currently no cure available for aceruloplasminemia. However, there are various treatments available to help manage the symptoms and effectively reduce the risk of getting worse. Treatment options are recommended by healthcare professionals after a thorough health check and discussion with the individual to select what is most appropriate for them. Some of the treatments may include:1,3,5,6,9,11

Regular monitoring 

Healthcare professionals may recommend regular check-ups, including checking iron levels and glucose levels to check how you are managing the symptoms and address any further treatment plans.

Iron chelation therapy 

This is the most common treatment. Iron chelation therapy (e.g., deferiprone) aims to lower the level of iron back to normal by getting rid of excess iron from the body, such as through urine.

Therapeutic blood removal 

This aims to reduce the high level of iron in the body by regular removal of certain amounts of blood from the body. However, this treatment may not be recommended if the individual has anaemia (low red blood levels). 

Diet management 

Dietary recommendations and monitoring may be suggested in combination with other therapies to prevent further increase of iron levels in the body and for the management of diabetes. 

Supportive care 

To help manage the symptoms of this condition and adjust to life, supportive care may include:  

  • Physiotherapy 
  • Occupational therapy
  • Rehabilitation 
  • Speech and language therapy
  • Psychological therapy 

Emerging treatment 

There are various clinical trials, gene therapy, and ongoing research and developments for which you may be eligible. These can be discussed with your healthcare provider.

Prevention

There is no current prevention. But the following steps may be considered if you have or are at a higher risk of having aceruloplasminemia: 1,11,14

Early detection 

Being aware of aceruloplasminemia can help with planning the best treatments for you and effectively minimise the risk of the condition and symptoms worsening.

Genetic counselling and family planning 

If you are considering having children, a genetic counsellor can provide you with information about the risks. 

Healthy lifestyle 

Although the condition is genetic, a healthy lifestyle, including a balanced diet, physical activity, and good stress management, can help with overall wellbeing.

Summary

Aceruloplasminemia is a rare genetic disorder where the body cannot maintain the level of iron because of the lack of ceruloplasmin protein. Ceruloplasmin is normally required to help maintain our iron levels. The current treatments available aim to reduce the level of iron in the body, help manage the symptoms and minimise the risk of it getting worse. Being well-informed about the condition and treatment options is important to help manage the symptoms and reduce the risk of getting worse symptoms. There is still ongoing research to better understand this condition and develop a more effective treatment. If you or anyone you know are concerned about aceruloplasminemia, please speak to your doctor. 

FAQs

  1. What is aceruloplasminemia? 

Aceruloplasminemia is a rare genetic condition caused by a lack of ceruloplasmin protein, which is important for maintaining healthy levels of iron in the body. Lack of ceruloplasmin causes a build-up of iron in various organs in the body, which can lead to organ damage. 

  1. What causes aceruloplasminemia? 

Aceruloplasminemia is caused by mutations in the ceruloplasmin gene. If both parents have defective ceruloplasmin genes, this increases the risk of the child having aceruloplasminemia.  

  1. What are the symptoms of aceruloplasminemia? 

The most common symptoms include movement issues, cognitive impairment, and psychological symptoms. Other symptoms can include diabetes, anaemia, and liver disease. It is important to note that severity and symptoms can vary in different individuals. 

  1. What age does the symptom first appear?

The age of symptoms first appearing can vary a lot in different people with aceruloplasminemia. The most commonly reported age is between 20 and 70 years old.

  1. How is aceruloplasminemia diagnosed?

Healthcare professionals use a combination of evaluations including clinical, blood tests, genetic tests, and MRI. 

  1. How is aceruloplasminemia treated? 

Treatment aims to manage symptoms, reduce the level of iron, and prevent further complications. The most common treatment is iron chelation. 

  1. Is there a cure for aceruloplasminemia? 

There is currently no cure available. However, treatments are available to help manage the symptoms and prevent the condition from getting worse. 

  1. How is aceruloplasminemia different from other iron overload disorders, such as hemochromatosis? 

Both conditions cause an overload of iron in the body  however, aceruloplasminemia is different from hemochromatosis as it is caused by defects in different genes.10

  1. Is aceruloplasminemia the same as Wilson's disease?

Both conditions are caused by low levels of ceruloplasmin protein. However, Wilson’s disease is caused by an overload of copper, unlike aceruloplasminemia, which is due to an overload of iron.1-4 

  1. Can aceruloplasminemia cause organ damage? 

The long-term build-up of iron can increase the risk of organ damage, particularly the brain, liver, and pancreas. 

  1. What is the life expectancy and outlook for people with aceruloplasminemia?

Life expectancy can vary in different individuals with aceruloplasminemia. It depends on many factors, such as how severe the symptoms are, if they are receiving treatments and general health. 

  1. Are there any support groups available for people with aceruloplasminemia?

There are many support groups and online communities available where people with aceruloplasminemia can connect. Please refer to your healthcare professional for trustworthy support groups.

References

  1. Aceruloplasminemia - symptoms, causes, treatment: Nord (2019) National Organization for Rare Disorders. Available at: https://rarediseases.org/rare-diseases/aceruloplasminemia/ (Accessed: 09 August 2023). 
  2. Marchi G, Busti F, Lira Zidanes A, Castagna A, Girelli D. Aceruloplasminemia: a severe neurodegenerative disorder deserving an early diagnosis. Frontiers in neuroscience. 2019 Apr 5;13:325.
  3. Kono S, Miyajima H. Molecular and pathological basis of aceruloplasminemia. Biological research. 2006;39(1):15-23.
  4. McNeill A, Pandolfo M, Kuhn J, Shang H, Miyajima H. The neurological presentation of ceruloplasmin gene mutations. European neurology. 2008 Jul 30;60(4):200-5.
  5. Iolascon, A., De Falco, L. and Beaumont, C. (2009) ‘Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis’, Haematologica, 94(3), pp. 395–408. doi:10.3324/haematol.13619. 
  6. Hicken, B.L., Tucker, D.C. and Barton, J.C. (2003) ‘Patient compliance with phlebotomy therapy for iron overload associated with hemochromatosis’, The American Journal of Gastroenterology, 98(9), pp. 2072–2077. doi:10.1111/j.1572-0241.2003.07292.x. 
  7. CTG Labs - NCBI. Available at: https://www.clinicaltrials.gov/ (Accessed: 10 August 2023). 
  8. Explore clinical trials & research for rare disease patients (2023) National Organization for Rare Disorders. Available at: https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/ (Accessed: 10 August 2023). 
  9.  Miyajima, H. (2003) ‘ACERULOPLASMINEMIA, an iron metabolic disorder’, Neuropathology, 23(4), pp. 345–350. doi:10.1046/j.1440-1789.2003.00521.x. 
  10. Hemochromatosis - niddk (no date) National Institute of Diabetes and Digestive and Kidney Diseases. Available at: https://www.niddk.nih.gov/health-information/liver-disease/hemochromatosis#:~:text=Hemochromatosis%20is%20a%20disorder%20in,%2C%20endocrine%20glands%2C%20and%20joints (Accessed: 10 August 2023). 
  11. Hosoi, Y. and Miyajima, H. (2018) ‘Aceruloplasminemia’, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, pp. 657–668. doi:10.1016/b978-0-12-813955-4.00049-0. 
  12. Sapra, A. and Bhandari, P. (2023) ‘Diabetes ’, StatPearls [Internet] [Preprint]. 
  13. Liver biopsy - NIDDK (no date) National Institute of Diabetes and Digestive and Kidney Diseases. Available at: https://www.niddk.nih.gov/health-information/diagnostic-tests/liver-biopsy (Accessed: 10 August 2023). 
  14. Vila Cuenca M, Marchi G, Barqué A, Esteban-Jurado C, Marchetto A, Giorgetti A, Chelban V, Houlden H, Wood NW, Piubelli C, Dorigatti Borges M. Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis. International journal of molecular sciences. 2020 Mar 30;21(7):2374. doi:10.3390/ijms21072374. 
  15. Aceruloplasminemia - about the disease (no date) Genetic and Rare Diseases Information Center. Available at: https://rarediseases.info.nih.gov/diseases/9499/aceruloplasminemia (Accessed: 10 August 2023). 
  16. NHS choices. Available at: https://www.nhs.uk/conditions/parkinsons-disease/ (Accessed: 10 August 2023). 
  17. NHS choices. Available at: https://www.nhs.uk/conditions/huntingtons-disease/ (Accessed: 10 August 2023). 
  18. Wilson disease - symptoms, causes, treatment: Nord (2018) National Organization for Rare Disorders. Available at: https://rarediseases.org/rare-diseases/wilson-disease/ (Accessed: 10 August 2023). 

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This content is purely informational and isn’t medical guidance. It shouldn’t replace professional medical counsel. Always consult your physician regarding treatment risks and benefits. See our editorial standards for more details.

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Nisha Gurung

Nisha is a current Medical Student at St George’s University of London. She completed her MSci degree in Cell Biology at UCL. She fulfils multiple responsibilities including as a research assistant, peer mentor for In2MedSchool and advocates for careers.

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