Have you ever heard of the red blood cells in your blood? Normally, they are round, like little flat balls. But sometimes, these red blood cells can change shape and take on a strange, spiky, thorny shape. That's what the medical term for this condition is called `(Acanthocytosis)`. Just think, the Greek word "acan" means a thorn, something like a thorn. "Cyte" means a cell. So, "thorn-like cells" is the simple meaning of this.
Actually, we all have a few of these thorny cells (Acanthocytes) in our blood. It's usually not a big problem. But, if you have too many of these thorny cells in your blood, that's when some small problems start to arise. Do you know what happens? We have an organ called the spleen . It works like a filter that cleans our blood. What the spleen does is identify old, damaged cells in the blood and destroy them. So, when those thorny red blood cells pass through the spleen, the spleen thinks, "Oh, these look a little messy, they don't look like normal cells." Then the spleen starts to destroy these thorny cells at a rapid rate. When that happens, the number of healthy red blood cells in your body can decrease. This is called anemia or ``hemolytic anemia''. That is, a lack of blood caused by the breakdown of red blood cells. Not only that, this condition called ``Acanthocytosis'' can also be a symptom of several other diseases and complications. Therefore, when these thorny cells are found in the blood, it can also help doctors diagnose other underlying diseases.
So, what kind of symptoms can we get due to this `(Acanthocytosis)`?
When your spleen rapidly destroys red blood cells due to sickle cell disease, a condition called ``hemolytic anemia'' occurs. You may experience symptoms like:
- Yellowing of the skin and eyes: We also call this ``jaundice'', just like what happens when some people have yellow fever.
- Feeling extremely tired: Not just tired, but a feeling of being exhausted no matter how much sleep you get.
- Difficulty breathing: Feeling short of breath even with mild exertion (dyspnea).
- Rapid heartbeat: A feeling of your chest beating too fast even when you are just standing still (tachycardia).
- Blood in the urine: Sometimes the urine can turn red or dark brown (hematuria).
- Stomach ache: This is often caused by a swollen spleen.
In addition to these symptoms, other symptoms may occur depending on the underlying disease that caused these scaly cells to form in your body. Consider, for some people:
- Weight loss: If you are a small baby, growth may be slow.
- Problems coordinating muscle activity: Like losing balance (ataxia).
- Involuntary movements of body parts that one cannot control: for example, blinking or turning the neck (tics).
- Difficulty thinking and remembering: Feeling like your brain is slowing down (cognitive impairment).
- Digestive problems.
- Pale stools: This can occur when fats are not digested properly (steatorrhea).
- Dark-colored urine.
If you have one or more of these symptoms, it's best to see a doctor as soon as possible.
Why do these types of spiky cells form in our blood? What are the reasons?
Simply put, the main cause of `(Acanthocytosis)` is the effect on the outer cell membrane of the red blood cells, that is, the `(cell membrane).` This cell membrane is made up of fats `(lipids)` and proteins . So, if there is a disease or condition that affects these essential components, the normal round shape of the red blood cells changes and they start to take on that thorn-like shape.
These modified stem cells, as mentioned earlier, are not easily filtered when they pass through the spleen. Therefore, the spleen destroys them. Sometimes, instead of destroying these cells, the spleen blunts some of their spines and sends them back into the bloodstream. These modified stem cells are sometimes called `(spur cells)`.
Here are some of the main causes of acanthocytosis:
- Severe liver disease: Spur cells are often a sign of serious, sometimes life-threatening, liver disease. Some people with liver disease develop a condition called spur cell anemia (SPA). This means they have spur cells in their blood, and they also have a low number of red blood cells.
- Abetalipoproteinemia: This is a very rare, genetic disease. That is, it is inherited from parents to children. This disease causes the body to be unable to properly absorb fats and fat-soluble vitamins (vitamins A, D, E, K).
- Neuroacanthocytosis: This is also a rare genetic disorder. This causes an inability to control body movements. Examples include chorea-acanthocytosis, McLeod syndrome, pantothenate-kinase associated neurodegeneration (PKAN), and Huntington's disease-like 2.
In addition to these main causes, some other conditions can also cause ``Acanthocytosis``:
- Anorexia nervosa is a condition caused by a lack of appetite.
- Decreased function of the thyroid gland (Hypothyroidism).
- Myelodysplastic syndrome is a bone marrow disease.
- Kidney disease.
- Surgical removal of the spleen (splenectomy).
- Certain medications (for example, cholesterol-lowering drugs like ``statins'').
How do doctors diagnose acanthocytosis?
Your doctor can diagnose acanthocytosis by doing a peripheral blood smear (PBS) . This involves taking a small sample of your blood and looking at it under a microscope. This will clearly show the presence of these abnormal, spiky cells.
Then, to find out exactly what is causing these sebaceous cysts, you will need to have some more blood tests. These are:
- Complete blood count (CBC)
- Liver function tests
- Kidney function tests
- Thyroid hormone tests
- Blood fat level test `(Lipid panel)`
- Genetic tests: Check for genetic mutations associated with certain hereditary diseases.
In addition, your doctor may also recommend tests such as an imaging scan to see if there is any damage to the tissues or organs inside your body.
What are the treatments for this?
The treatment for acanthocytosis depends on the cause. In most cases, when the underlying condition is properly treated, the red blood cells return to normal.
Think about it, the treatments for liver disease and conditions like ``Neuroacanthocytosis`` are mainly aimed at controlling the symptoms. These diseases are usually difficult to completely cure. They tend to get worse over time. However, in severe liver disease, there are cases where a liver transplant is the only cure.
If you have a genetic condition called abetalipoproteinemia, you may need to reduce your intake of unhealthy fats and get enough calories. You may also need to take vitamin supplements to ensure you get enough vitamins (A, D, E, K) to build healthy red blood cells.
If acanthocytosis is caused by anorexia or hypothyroidism, the condition will usually improve when the underlying condition is treated. Also, if it is determined that a medication is causing the acanthocytosis, the condition will usually go away once the medication is stopped.
If I have this condition, what should I expect?
In some cases, a condition called acanthocytosis can be completely cured with treatment. This means that the red blood cells return to normal.
However, most of the time, your health outcome depends on what caused the growth of these sebaceous glands and how quickly you start treatment for it.
For example, diseases like `(Neuroacanthocytosis)` and `(Abetalipoproteinemia)` can cause long-term damage to body tissues. However, if the disease is diagnosed and treated early , the rate of progression of symptoms can be slowed.
Generally, if you have `(Acanthocytosis)` with liver disease, it can be a bit serious. Many people with the aforementioned `(spur cell anemia)` die within a few months. Therefore, the best way to know about your condition is from the doctor who treats you. He or she will look at your overall health and the cause of these spur cells, and explain what is happening to you.
Is there a way to prevent this `(Acanthocytosis)` from occurring?
Actually, if acanthocytosis is caused by a genetic disease, there is no way to prevent it. Because it is something we inherit. However, there are things we can do to reduce the risk of developing this condition due to some other causes.
- Avoid or limit alcohol consumption: This can help prevent alcohol-related liver disease.
- Eat nutritious foods: Your body needs to get the right nutrients to make red blood cells. If you need help choosing the right foods for you, consult a dietitian.
- Get treatment early: Some conditions that cause sebaceous cysts can quickly become serious if left untreated. Therefore, it is very important to see a doctor as soon as symptoms appear, diagnose the condition, and begin treatment.
How do I take care of my health?
The most important thing is to follow the treatment prescribed by your doctor for the underlying condition causing your acanthocytosis.
If you have a genetic condition called acanthocytosis, consider getting genetic counseling . A genetic counselor can advise you on how the condition may affect you and your family, and the likelihood that you will pass on the genetic mutation that causes it to your children.
What questions should I ask my doctor?
When you go to see a doctor, don't hesitate to ask questions like these:
- Should I be worried about having these thorny cells (Acanthocytes) in my blood?
- What other tests will I need to do to find the cause of this?
- What kind of treatment do you suggest for me?
- What kind of results can I expect from these treatments?
- Should I see a genetic counselor?
Finally, I have to say... (Take-Home Message)
When doctors diagnose you, they also look at the appearance of your red blood cells. If you are diagnosed with `(Acanthocytosis),` it means that you have some abnormal red blood cells in your blood. Don't worry. Sometimes, treatment can bring your red blood cells back to normal. Or, it can help control the underlying disease. However, sometimes, having acanthocytes in your blood can be a sign of a serious condition, such as severe liver disease. Therefore, your doctor is the best person to explain exactly how having `(Acanthocytosis)` affects your health. If you listen to what he or she says and follow the treatment exactly, the condition can often be controlled.
` Acanthocytosis, Red blood cells, Spindle cells, Spleen, Anemia, Liver disease
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