Acanthocytosis

What is acanthocytosis?

Acanthocytosis (pronounced “uh-kan-thoh-sigh-TOH-sis”) involves having abnormal spiky red blood cells called acanthocytes in your blood. “Acan” is the Greek word for thorn, spine or prickle. “Cyte” means cell. Instead of being round, like a normal red blood cell, acanthocytes have uneven thorn-like projections.

The unusual shape makes it more likely that your spleen will destroy them. Your spleen filters your blood by destroying old and damaged blood cells.

Most people have a few acanthocytes in their blood. And it doesn’t usually cause problems. But if too many of your red blood cells are acanthocytes, their destruction in your spleen can cause you to have too few red blood cells (hemolytic anemia). Acanthocytosis is also a sign of several different diseases and disorders. The presence of acanthocytes in blood helps healthcare providers diagnose conditions.

What are the symptoms of acanthocytosis?

Acanthocytosis can cause hemolytic anemia if your spleen destroys too many red blood cells. Signs and symptoms include:

• Yellowing of your skin and eyes (jaundice)
• Severe exhaustion (fatigue)
• Shortness of breath (dyspnea)
• Fast heartbeat (tachycardia)
• Blood in your pee (hematuria)
• Stomach pain (usually from an enlarged spleen)

You may have other symptoms, too, depending on what’s causing the acanthocytes. Symptoms of conditions that cause acanthocytosis include:

• Weight loss (in babies, slow growth)
• Problems coordinating muscle movements (ataxia)
• Involuntary movements (tics)
• Trouble thinking and remembering (cognitive impairment)
• Trouble digesting foods
• Pale poop (steatorrhea)
• Dark-colored pee

What causes acanthocytosis?

Conditions that affect the cell membrane of red blood cells cause acanthocytosis. The membrane is made of fats (lipids) and proteins. Diseases that impact these key ingredients can cause red blood cells to take on a spiky shape instead of a round one.

These spiky cells pass through your spleen. But your spleen can’t easily filter them. Instead, it destroys them. Or your spleen may change them by blunting the spikes before sending them back into your bloodstream. These remodeled acanthocytes are sometimes called “spur cells.”

The conditions that most commonly cause acanthocytosis are:

• Severe liver disease. Acanthocytes are often a sign of life-threatening liver disease. Some people with liver disease develop spur cell anemia (SPA). With this condition, you have spur cells in your blood and a low red blood cell count.
• Abetalipoproteinemia. This is a rare genetic disorder you inherit from a biological parent. It makes it harder for your body to absorb fats and the fat-soluble vitamins A, D, E and K.
• Neuroacanthocytosis. This condition refers to a group of rare genetic disorders that cause you to lose control of how your body moves. Types include chorea-acanthocytosis, McLeod syndrome, pantothenate-Kinase associated neurodegeneration (PKAN) and Huntington’s disease-like 2.

Other causes of acanthocytosis include:

• Anorexia nervosa
• Hypothyroidism
• Myelodysplastic syndrome
• Kidney disease
• Surgery to remove your spleen (splenectomy)
• Certain medications (including statins to lower cholesterol)

How is acanthocytosis diagnosed?

Your healthcare provider can tell if you have acanthocytosis by doing a peripheral blood smear (PBS). They’ll examine a blood sample beneath a microscope and check for cells with uneven spikes.

To find out what’s causing acanthocytosis, you may need other blood tests like:

• Complete blood count (CBC)
• Liver function tests
• Kidney function tests
• Thyroid tests
• Lipid panel
• Genetic tests (to check for gene variations associated with inherited conditions)

You may need other tests, too, like imaging to check for tissue or organ damage.

How is acanthocytosis treated?

Treatment for acanthocytosis depends on the cause. Usually, your red blood cells return to normal once you get treatment for the underlying condition.

Treatments for liver disease and neuroacanthocytosis include medications that help manage symptoms. These conditions aren’t usually reversible. Instead, they usually worsen over time. Severe liver disease is curable but only with a liver transplant.

Acanthocytosis related to abetalipoproteinemia usually requires eating less unhealthy fats while getting enough calories. You may need to take supplements to get the vitamins needed to make healthy red blood cells (A, D, E and K).

Acanthocytosis related to anorexia and hypothyroidism is reversible with treatment. Stopping a medication that’s causing acanthocytosis usually reverses it.

Can acanthocytosis be prevented?

There’s no way to prevent having a genetic disorder that causes acanthocytosis. But in some cases, adopting certain behaviors can reduce your risk. You can:

• Avoid alcohol or drink only in moderation. This reduces your risk of developing alcohol-related liver disease.
• Eat nutritious foods. It’s essential to get enough of the nutrients your body needs to make red blood cells. Work with a dietitian if you need help deciding which foods are best for your health.
• Seek early treatment. Some of the conditions that cause acanthocytes worsen quickly without treatment. Getting diagnosed and treated early can help you maintain your health.

What can I expect if I have this condition?

In some cases, acanthocytosis is reversible with treatment.

But with many causes of acanthocytosis, your prognosis depends on how quickly you get diagnosed and treated. For example, both neuroacanthocytosis and abetalpoproteinemia can cause long-term tissue damage. But early treatment may slow symptom progression.

Usually, acanthocytosis in liver disease is a sign that things are serious. Most people with spur cell anemia die within months.

Ultimately, your outlook depends on your overall health and what’s causing the acanthocytes. Your healthcare provider is your best resource for explaining what acanthocytosis means for you.

How do I take care of myself?

Follow your healthcare provider’s treatment plan to manage the condition causing your acanthocytosis. If you have a genetic disorder that causes acanthocytosis, consider genetic counseling. A counselor can advise you on how your condition may impact you and your family members. They can discuss the likelihood of passing on the gene variation that’s causing the acanthocytes.

What questions should I ask my healthcare provider?

Questions to ask include:

• Should I be concerned about having acanthocytes in my blood?
• What tests will I need to determine the cause?
• What treatments do you suggest?
• What outcomes can I expect from treatment?
• Should I see a genetic counselor?