Acanthocytosis- Causes, Symptoms, Diagnosis, and Treatment

What Are Acanthocytes?

Spur cells, also known as acanthocytes, are red blood cells with spikes on the outside that are dense, shrunken, and irregularly shaped. These cells develop as a result of modifications to the proteins and fats on the surface of red blood cells. The majority of adults have a few acanthocytes in their blood. However, some inherited and acquired diseases cause them to rise above normal levels.

Autosomal recessive inheritance is the predominant mode. In addition, acanthocytosis appears to be associated with a number of genetic syndromes, but little is known about their molecular causes. On blood films, they can be seen in conditions like liver disease, chorea acanthocytosis (a neurological condition that impairs movement in numerous body parts), and a number of inherited neurological and other conditions.

What Is Acanthocytosis?

Acanthocytes are abnormal red blood cells with irregularly spaced spikes of varying lengths and widths on their surface. The Greek words "acantha," which means "thorn," and "kytos," which means "cell," are the source of the name.

Acanthocytes are similar to echinocytes (another abnormal red blood cell). Spikes are present on the cell surface of echinocytes as well, but they are smaller, more symmetrically shaped, and more evenly spaced. The morphology is attributed to an excess of lipids in the outer layer of the membrane bilayer relative to the inner layer, and it results from changes in the membrane ratio of cholesterol to phospholipid. Acanthocytes form in patients with liver disease as they experience symptoms like splenic congestion, hemolytic anemia, and jaundice due to increased free cholesterol in the blood.

What Causes Acanthocytosis?

Red blood cells occasionally take abnormal shapes for unknown reasons. Changes may be brought on by acquired or inherited diseases. The membrane, a layer found on blood cells, is composed of proteins and fats. These fats, or lipids, are found in abnormally high concentrations and strange ratios in acanthocytes. This indicates an imbalance between the blood cells' inner and outer surface areas. They become harder, pucker, and develop spikes as a result.

Acanthocytosis frequently results from severe liver disease. In addition, some rare or inherited diseases can also cause comparable alterations in fats and cells. It is abetalipoproteinemia, also known as Bassen-Kornzweig syndrome. The body cannot combine fat and protein to form lipoproteins because of Bassen-Kornzweig syndrome. This implies that individuals cannot properly digest fat and essential vitamins.

Acanthocytosis can also result from neurologic issues. These are called neuroacanthocytosis and are extremely uncommon. These conditions bring red blood cell abnormalities, neurological symptoms, and movement issues. They exist in the form of the following.

• Chorea-acanthocytosis- The symptoms of this condition cause erratic movement, muscle spasms, nerve damage, and behavioral issues.

• McLeod Syndrome- It is a condition of the central nervous system that affects learning, memory, and movement, among other things.

• Huntington's Disease-like 2- It results in dementia and movement issues.

• Pantothenate Kinase-associated Neurodegeneration- It affects movement and other functions due to iron build-up in the brain.

Other conditions that can result in acanthocytosis include anorexia (an eating disorder that is caused by a distorted perception of weight, an unusually low body weight, and a severe fear of gaining weight), an underactive thyroid, malnutrition, splenectomy, and kidney problems like glomerulonephritis.

What Are the Signs and Symptoms of Acanthocytosis?

The red blood cells are altered by acanthocytosis, which increases the likelihood of getting stuck in the spleen and being destroyed. It may result in spur cell hemolytic anemia. Hemolytic anemia symptoms can include the following:

• Gray stools.

• Persistent diarrhea.

• Reduced appetite.

• Throwing up.

• Jaundice, also known as skin and eye yellowing.

• Abdominal pain.

• Dark feces.

Other conditions could be related to acanthocytosis. This implies that the typical symptoms may vary. Diseases that cause neuroacanthocytosis exhibit symptoms like;

• Jerky or uncontrollable movements.

• Spasms of muscles.

• Gait.

• Difficulty walking.

• Seizures.

• No memory.

• Confusion.

• Speech difficulties and irritability.

• Depression.

• Disorder of compulsive behavior.

How to Diagnose Acanthocytosis?

With the help of a blood test known as a peripheral blood smear, acanthocytosis can be identified. It is necessary to draw fresh blood for this test because acanthocytes can occasionally be mistaken for echinocytes, another type of blood cell. ‌Other blood tests may be prescribed by the doctor to check liver function, thyroid hormone levels, or other issues. Typically, these tests are based on the patient's symptoms. However, the healthcare practitioner might also recommend additional tests if the patients have acanthocytosis and additional muscle or brain symptoms.

The diagnosis can be made with the help of the following tests.

• CBC (Complete Blood Count)- It is a blood test that can be used to assess general health and find a variety of disorders.

• CT (Computed Tomography) Scan- It combines several X-ray images of the body from various angles and aids in detecting diseases and injuries.

• Genetic Testing- It scans the DNA for modifications, also known as mutations or variants. It can alter the medical care that individuals receive and are helpful in many areas of medicine.

• MRI (Magnetic Resonance Imaging)- This medical imaging produces finely detailed pictures of the body's organs and tissues.

• EEG (Electroencephalogram)- This measures brain activity and is a painless and stable test.

How to Treat Acanthocytosis?

The cause of acanthocytosis affects the course of treatment. Acanthocytosis may be treated more effectively by addressing the underlying condition. ‌ Treatment for severe malnutrition and eating disorders, as well as anorexia, can reverse acanthocytosis. Acanthocytosis may be reversed by stopping and switching medications if they are the cause. Vitamins A, D, E, and K must be added to the diets of those with abetalipoproteinemia (a genetic condition that prevents the body from absorbing certain vitamins and fats normally) to manage their symptoms. They may need to follow a low-fat diet and consume fewer fats and oils.

Neuroacanthocytosis conditions are incurable. Treatment entails controlling symptoms with various drugs or therapies. These include.

• Anti-epileptic drugs.

• Speech therapy.

• Physical exercise.

• Antidepressants.

• Sedatives.

• Botox for spasms in the muscles.

Other treatment involves.

• Blood Transfusion- They are used to replenish blood components lost due to a variety of medical conditions. It involves replacing blood components intravenously into a person's circulation.

• Plasmapheresis- Plasma from a patient's blood is removed and replaced during this nonsurgical therapy.

• Transjugular Intrahepatic Portosystemic Shunt (TIPS)- The liver's portal vein is joined to the hepatic vein using imaging guidance during the procedure.

• Liver Transplant- It is a procedure that removes a dysfunctional liver and replaces it with a functioning liver.

Conclusion

Red blood cells with irregular spikes on their surface are known as acanthocytes. They are linked to both uncommon inherited conditions and more prevalent acquired conditions. Many individuals have a small number of acanthocytes in their blood. Some inherited acanthocytosis subtypes are incurable and progressive.

However, acquired acanthocytosis is typically curable and reversed when treating the underlying condition. An extremely harmful side effect linked to severe liver disease is acanthocytosis. Treatment for liver disease is difficult and fatal outcomes are possible. For serious cases, a liver transplant might be the best option.