Aceruloplasminemia is a rare inherited disorder. This condition causes iron to accumulate in various organs of the body. Aceruloplasminemia is inherited as an autosomal recessive disorder, and symptoms typically begin to appear in adulthood.
People with
aceruloplasminemia are at high risk of developing anemia and diabetes by the
age of 20. Anemia is caused by excessive iron accumulation in the organs and a
concurrent iron deficiency in the blood. Furthermore, iron-induced damage to
pancreatic beta cells leads to abnormal insulin secretion and diabetes.
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
ceruloplasmin production, leading to abnormal iron accumulation.
When ceruloplasmin is
absent, the process of iron distribution 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.
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 also commonly experience
fatigue, shortness of breath, and pale skin.
Meanwhile, neurological
problems related to iron buildup in the brain can cause the following symptoms:
- Tremor
- Jerking movements
- Involuntary contractions of the
head and neck muscles
- Wrinkled eyelids
- Grimace
- Muscle coordination disorder
(ataxia)
- Difficulty speaking
- Cognitive impairment.
Movement-related
symptoms of aceruloplasminemia are often similar to those of Parkinson's
disease.
In some cases, iron
buildup can also induce retinal tissue degeneration. This typically manifests
as yellow deposits in the macular area. However, this condition is not
associated with vision impairment or loss.
Diagnosis Aceruloplasminemia
Initial diagnosis is
made by identifying and analyzing typical symptoms and gathering information
about the patient's family history. Then, various specialized tests are
performed to confirm the presence of the disease.
After that, blood tests
were performed to detect levels of ceruloplasmin, iron, ferritin, and copper in
the blood. The disease was further confirmed through laboratory studies.magnetic
resonance imaging (MRI). This test is used to obtain images of different
organs, particularly the brain and liver, to detect iron accumulation. In
addition, genetic testing is also performed to identify and analyze the
causative mutations in the CP gene.
Treatment of Aceruloplasminemia
Treatment for
aceruloplasminemia is symptomatic. Patients are typically treated with iron
chelators, which help dissolve excess iron in water and facilitate its
excretion through the kidneys. Patients should also avoid foods that can
increase iron levels in the body.
Since this condition is
related to diabetes, blood glucose management is necessary, including through
proper diet, antidiabetic tablets, and insulin injections.
Another equally
important treatment is repeated transfusions of fresh frozen plasma with an
iron chelator. This can help restore normal levels of functional ceruloplasmin
in the blood.
Patients are also given
antioxidants along with iron chelators or oral zinc sulfate to protect tissues
from oxidative damage caused by iron. Meanwhile, patients experiencing
excessive iron accumulation in the liver are usually treated with bloodletting
therapy, a method of removing blood from the body to reduce excess iron.
Doctors also generally
recommend genetic counseling for family members of the affected person. This
helps the family adapt not only to the medical implications of the disease but
also to the potential psychological consequences.