Acanthocytosis is a condition where your red blood cells are abnormally shaped. It is associated with lots of different conditions and symptoms.
Acanthocytosis and Acanthocytes
When you have acanthocytosis, your red blood cells are misshapen and known as acanthocytes.
Acanthocytes are also called spur cells. They are dense, shrunken, and irregularly shaped red blood cells with spikes on the outside. These cells form from changes in the fats and proteins on red blood cells’ outer layers.
Most adults have a small number of acanthocytes in their blood. But some inherited and acquired diseases increase them beyond the normal amount.
The exact reason why red blood cells change into abnormal shapes is not fully understood. The changes can be caused by inherited conditions or acquired diseases.
Blood cells have a layer called a membrane which has fats and proteins. Acanthocytes have an abnormal amount of these fats, or lipids, in odd proportions. That means the inner and outer surface areas of the blood cells are imbalanced. This causes them to harden, pucker, and form spikes.
Severe liver disease is a common cause of acanthocytosis. Similar changes in fats and cells can also result from rare or inherited diseases, including the following.
Abetalipoproteinemia. This condition is also called Bassen-Kornzweig syndrome. Bassen-Kornzweig syndrome keeps your body from combining fat and protein to create molecules called lipoproteins. This means you can’t digest fat and essential vitamins correctly.
Ongoing problems breaking down and absorbing fats can lead to severe malabsorption, vitamin E deficiency, and other issues.
Neuroacanthocytosis. There are several types of neuroacanthocytosis. These conditions cause red blood cell irregularities, neurological symptoms, and movement problems. They include:
- Chorea-acanthocytosis, which causes fast, uncontrollable movements, muscle spasms, nerve damage, and behavioral problems
- McLeod syndrome, which is a central nervous system disorder that causes movement problems, memory loss, learning problems, and other issues
- Huntington’s disease-like 2, which causes movement problems and dementia
- Pantothenate kinase-associated neurodegeneration, where iron accumulates in the brain and causes movement and other problems
Acanthocytosis can also be caused by other conditions such as:
The changes Acanthocytosis makes to your red blood cells make them more likely to get trapped in your spleen and be destroyed. It can lead to a condition called spur cell hemolytic anemia.
The symptoms can of hemolytic anemia include:
- Pale stools
- Ongoing diarrhea
- Loss of appetite
- Throwing up
- Slow growth and weight gain
- Jaundice, or yellowing skin and eyes
- Stomach pain
- Dark urine
- Pale skin
Acanthocytosis may be linked to other conditions. That means the general symptoms can be different. Neuroacanthocytosis illnesses cause similar symptoms like:
Your doctor can diagnose acanthocytosis with a blood test called a peripheral blood smear. This test requires fresh blood because an acanthocyte is sometimes mistaken for another type of blood cell called an echinocyte.
Your doctor might order other blood tests to check your thyroid hormone levels, liver health, or for other problems. These tests usually depend on your symptoms.
If you have acanthocytosis together with other brain and muscle symptoms, your doctor might also request more tests. These include:
- Computed tomography scan, or CT scan
- Magnetic resonance imaging, or MRI
- Electroencephalogram, or EEG
- Genetic testing
Treatment for acanthocytosis depends on the cause. Treating the underlying condition can help treat acanthocytosis.
If you have anorexia or severe malnutrition, you can reverse acanthocytosis by treating the nutrition and eating disorder. If it’s caused by medication, stopping and changing the medication can also reverse acanthocytosis.
If you get hemolytic anemia from severe liver disease, your doctor might recommend:
- Blood transfusion
- A shunt that bypasses your liver called a TIPS
- Liver transplant
A blood transfusion doesn’t always work. The red blood cells in the donor blood can change into acanthocytes after they enter your body. Your doctor might suggest a liver transplant in such cases.
People who have abetalipoproteinemia will need to supplement their diet with vitamins A, D, E, K in large amounts to manage their symptoms. You might need to eat a low-fat diet and limit the fats and oils you eat.
There is no cure for neuroacanthocytosis conditions. Treatment involves managing symptoms with different medications or therapies. These can be:
- Anti-seizure medications
- Botox for muscle spasms
- Speech therapy
- Occupational therapy
- Physical therapy
Complications of Acanthocytosis
Some conditions are progressive and incurable. This means they might worsen over time. Your doctor will focus on treating your symptoms.
Acanthocytosis is a serious complication associated with severe liver disease. Liver disease is challenging to treat and can lead to death. A liver transplant may be the best treatment for severe cases.
Acanthocytosis can be treated and reversed when its underlying cause is treatable. Make sure to talk to your doctor about what treatments are available for you.