Aceruloplasminemia
Aceruloplasminemia is a rare inherited disorder. This condition causes iron to accumulate in various organs of the body. Aceruloplasminemia is inherited in an autosomal recessive manner and symptoms begin to appear mostly in adulthood.
People with aceruloplasminemia are at high risk of developing anemia and diabetes by the age of 20. Anemia is caused by excessive accumulation of iron in the organs and a simultaneous lack of iron in the blood. In addition, damage to pancreatic beta cells by iron causes abnormal insulin secretion and diabetes.
Symptoms of Aceruloplasminemia
Symptoms of aceruloplasminemia vary from person to person. In most cases, the main symptoms include neurological disorders, retinal degeneration, and diabetes mellitus. People with aceruloplasminemia who experience anemia generally also have symptoms of fatigue, shortness of breath, and pale skin.
Meanwhile, neurological problems related to iron accumulation in the brain can cause the following symptoms:
- Tremor
- Jerking movements
- Involuntary contractions of the head and neck muscles
- Eyelid twitching
- Grimace
- Impaired muscle coordination (ataxia)
- Difficulty speaking
- Cognitive impairment.
Movement-related symptoms of aceruloplasminemia are often similar to Parkinson’s disease.
In some cases, iron accumulation can also induce tissue degeneration in the retina. Usually in the form of yellow deposits found in the macular area. However, this condition is not associated with impaired or lost vision.
Causes of Aceruloplasminemia
Aceruloplasminemia is caused by mutations in the CP gene, a type of protein called ceruloplasmin. This protein is responsible for processing and distributing iron. However, mutations result in loss of CP gene function, resulting in unstable production of ceruloplasmin, leading to abnormal iron accumulation.
When ceruloplasmin is not available, the process of distributing iron out of body tissues is disrupted. The resulting abnormal iron accumulation can damage cells in body tissues, leading to neurological dysfunction and other health problems.
Diagnosis of Aceruloplasminemia
Initial diagnosis is done by identifying and analyzing typical symptoms and digging up information about the sufferer’s family history thoroughly. Then, various special tests are performed to confirm the presence of the disease.
After that, blood tests are performed to detect the levels of ceruloplasmin, iron, ferritin, and copper in the blood. The disease is further confirmed through magnetic resonance imaging (MRI) studies. This examination is used to obtain images of different organs, especially the brain and liver, to detect iron accumulation. In addition, genetic tests are also performed to identify and analyze the causative mutations in the CP gene.
Aceruloplasminemia Treatment
Treatment of aceruloplasminemia is based on symptoms. Sufferers are usually treated with iron chelators that help dissolve excess iron in water and facilitate its excretion through the kidneys. Sufferers should also avoid foods that can increase iron levels in the body.
Since this condition is related to diabetes, blood glucose management is needed. Namely through proper diet, antidiabetic tablets, and insulin injections.
Another equally important treatment is repeated transfusion of fresh frozen plasma with iron chelators. This method can help restore normal levels of functional ceruloplasmin in the blood.
Patients are also provided with antioxidants accompanied by iron chelators or oral zinc sulfate, to protect tissues from oxidative damage due to iron. Meanwhile, patients who experience excessive iron accumulation in the liver are usually treated with bloodletting therapy. This is a method of removing blood from the body to reduce excess iron.
Doctors also generally recommend genetic counseling for family members of the person with the disease so that the family can adapt not only to the medical implications of the disease but also to the potential psychological consequences.
Complications of Aceruloplasminemia
People with aceruloplasminemia can experience complications such as diabetes, anemia, and retinal disease.
Prevention of Aceruloplasminemia
Until now, it is not certain whether aceruloplasminemia can be prevented or not, considering that much research is still needed.