Introduction:
Genes are the functional units of heredity. Genes are made up of deoxyribonucleic acid (DNA) which is the hereditary material. Genes are responsible for transferring mental and physical traits among generations within a family. Genetic disorders are diseases that are caused due to faulty changes in the DNA sequence of the genes. Aceruloplasminemia with hemosiderosis in the basal ganglia is a genetic disorder that involves the excessive deposition of iron inside the brain.
What Is Aceruloplasminemia With Hemosiderosis in the Basal Ganglia?
Aceruloplasminemia is a condition characterized by iron overload in the brain or other organs which is caused due to defective genes. Hemosiderosis is the excess deposition of iron known as hemosiderin in the organs and tissues of the body. Red blood cell is a component of blood containing protein that helps in the transport of oxygen to various parts of the body. A large amount of iron found in the human body is present in the red blood cells. When the red blood cells die or get severely damaged, iron is released which gets turned into hemosiderin. Hemosiderin is a protein that aids in iron storage in the body's organs. Hence the excessive deposition of hemosiderin in the body tissues is known as hemosiderosis. The basal ganglia is a region within the brain that contains numerous nerve cells and plays a major role in controlling various functions of the body like the ability to move, learn, and emotional processing. Iron deposition inside the brain can lead to severe nerve-related complications that may worsen over time.
What Are the Causes of Aceruloplasminemia?
Aceruloplasminemia is caused due to defect in the ceruloplasmin (CP) gene. It is a disorder that is inherited one recessive pattern. Normally, every individual receives a pair of genes from their parents (one from each parent). Recessive genetic disorders are caused when an individual inherits one defective or non-working gene from each parent. If an individual inherits one working and one non-working gene from their parents, the person will not show any symptoms and will be the carrier for the disease. The CP gene is responsible for producing a protein called ceruloplasmin. Ceruloplasmin helps in the transport and efficient functioning of iron in the body. Faulty changes in the CP gene lead to non-functional or unstable ceruloplasmin production which affects the transport of iron in the body tissues leading to iron accumulation.
What Are the Symptoms of Aceruloplasminemia?
The symptoms of aceruloplasminemia may change from person to person. The common symptoms experienced are as follows:
-
Retinal degeneration (damage of the light-sensing cells of the eye). The patient may have blurred vision or a blind spot in the middle of the visual field.
-
Diabetes mellitus (high levels of blood sugar).
-
Anemia (reduced number of red blood cells that help in the transport of oxygen within the body tissues).
-
Shortness of breath.
-
The feeling of tiredness.
-
Difficulty in speaking.
-
Loss of balance.
-
Inability to coordinate and perform simple activities like walking and running.
-
Difficulty in concentrating, learning new things, and decision-making.
-
Involuntary, rapid, and shaking movements of one or more body parts.
-
Involuntary muscle activities of the head and neck may lead to abnormal and painful body postures or movements.
-
Difficulty remaining in a stable position for a long period of time.
-
The slowness of body movements.
-
Emotional changes like feeling depressed without any particular reason.
-
Twitching of eyelids.
-
Poor memory power.
-
Abnormal style of walking.
How Is Aceruloplasminemia Diagnosed?
The various methods to diagnose aceruloplasminemia are as follows:
Medical History and Physical Examination:
The doctor makes a detailed note of the symptoms experienced by the patient. The doctor also takes a detailed case history to find out if the parents or family members of the patient have this disorder. The doctor carries out a thorough physical examination of the patient to find out abnormal walking patterns, lack of balance, and involuntary shaking movements.
Blood Tests:
Laboratory testing of blood may reveal the absence of or reduced ceruloplasmin. The blood samples of patients affected with aceruloplasminemia also show reduced levels of copper and iron.
Magnetic Resonance Imaging (MRI):
Magnetic resonance imaging is a painless imaging test in which a computer, large magnets, and radio waves are used to produce cross-sectional images of various tissues and organs in the body. The findings obtained from an MRI of the liver and brain may indicate the presence of excess iron accumulation.
Genetic Test:
A genetic test is used to detect any changes in the normal composition of genes. This test helps in finding out if a person has a particular genetic disorder or the possibility of developing a genetic disorder. Genetic testing is performed by obtaining a sample of hair, blood, skin, or other body tissue of the person and observing it under the microscope. Genetic testing done in a person affected with aceruloplasminemia shows a defect in the CT gene. This genetic testing is considered a definitive test to diagnose aceruloplasminemia.
How Is Aceruloplasminemia Treated?
There is no specific treatment to control aceruloplasminemia. However certain treatment options are carried out to control the symptoms of the disease. They are as follows:
Iron Chelators:
Iron chelators are drugs that combine with the excess iron present in the body and facilitate it to dissolve in water. The combination of dissolved iron and the drug is excreted from the body through the kidneys. Even though this method has not been shown to reduce the symptoms experienced by the patient to a great extent, it reduces the level of excess iron accumulation.
Fresh Frozen Human Plasma (FFP):
Plasma is the liquid portion of the blood that helps in the transport of blood components throughout the body. Fresh frozen plasma is the liquid part of the whole blood that has been frozen for a time period of eight hours. Repeated transfusions of fresh frozen plasma in patients with aceruloplasminemia have been shown to reduce the levels of iron deposits in the brain.
Antioxidants:
Antioxidants are substances that are used to slow down or prevent certain types of cell damage. Antioxidants may be present naturally in food items like fruits and vegetables. Antioxidants are also present in man-made forms like vitamin supplements. Antioxidants like vitamin E combined with an iron chelator or oral zinc sulfate are given to patients affected with aceruloplasminemia to prevent cell damage.
Other Methods:
Diabetes mellitus is a very common symptom seen in patients affected with aceruloplasminemia. Hence appropriate diet, medications, and insulin injections are given to control the blood sugar level. Patients with aceruloplasminemia should avoid the intake of foods and supplements which would increase iron content in the body.
Conclusion
Aceruloplasminemia affecting the brain is a very serious condition as it progressively damages the nervous system and causes many nerve-related problems. However early diagnosis and prompt treatment can reduce the symptoms. Methods like genetic counseling have been found to be useful in knowing about the disease in its earlier stages. Genetic counseling is a method in which a genetic counselor explains a person regarding the effects of genetic diseases on them and family members. This helps the patient to understand the risk of getting a genetic disease if anybody in the family has it. Hence early understanding of the disease followed by immediate treatment can help the patient lead a normal life.
