Do you feel like you've never felt before? Sometimes our own immune system, the one that heals our body, can start to make us sick. One such serious and rare condition is Hemophagocytic Lymphohistiocytosis, or (HLH) for short. What happens is that the cells that are like our body's defense system multiply uncontrollably and attack our own organs. To be precise, it's like a guard who can't recognize his own family.
What does `(HLH)` actually mean? Let's understand it very simply, shall we?
Our body's immune system is a very amazing mechanism. It's like an army that protects our country. This system protects us from enemies like germs, viruses, and bacteria that come from outside. Many cells, proteins, organs, and tissues work together for this. However, when a person with `(HLH)` gets an infection, this immune system is overstimulated. Then, instead of fighting the infection, the newly formed cells start attacking our own body. This makes us sicker. In fact, this `(HLH)` condition can be life-threatening .
There are two main types of these `(HLH)`, right?
Yes, `(HLH)` can be divided into two main types:
1. Primary (HLH) (genetically caused) : This is caused by a genetic mutation. This means that a person is born with a predisposition to it. Symptoms often begin to appear within the first few years of life. Very rarely, symptoms appear after adulthood. This is sometimes called ``Familial HLH``.
2. Secondary (HLH) (caused by another medical condition) : This occurs when your immune system is affected by another medical condition you already have. For example, it can be caused by things like cancer, infections (especially the Epstein-Barr virus), or autoimmune conditions. Secondary (HLH) is more common than primary (HLH).
Who is more likely to develop this `(HLH)`?
`(HLH)` It can develop in anyone of any age. However, it is most often seen in young children and babies . However, that does not mean that adults cannot develop it.
How common is this situation?
HLH is a very rare condition . It is difficult to say exactly how many people actually have it, as it can sometimes be misdiagnosed or underdiagnosed. About 75% of people diagnosed with HLH have secondary HLH. Only 25% have primary HLH, which is about one in 50,000 people worldwide.
What are the symptoms of `(HLH)`?
The symptoms of (HLH) can vary from person to person, and they can vary depending on the severity of the disease. Here are some of the most common symptoms:
- A fever that doesn't go away even with antibiotics.
- Skin rash.
- Enlarged liver (hepatomegaly).
- Enlargement of the spleen (splenomegaly).
- Swollen lymph nodes (boils).
Consider this: If a child's fever doesn't go down for several days, and if it doesn't improve even after medication, it could be a sign of `(HLH)`. Therefore, it is very important to seek medical advice if it persists.
In addition to this, other symptoms may appear:
- Anemia means lack of blood.
- Low blood platelet count (`Thrombocytopenia`).
- Weakness, weakness.
- Lightheadedness or dizziness.
- Constant irritability and restlessness.
- Headaches .
- Pale skin.
- Jaundice.
However, there are also serious symptoms that can be life-threatening . If you see these, you should go to the hospital immediately :
- Difficulty breathing (dyspnea).
- Seizures .
- Bleeding inside the eyes (`Retinal hemorrhages`).
- Loss of consciousness.
- Coma.
The most important thing is to see a doctor without delay if you have any of these symptoms, especially those that may be life-threatening. Early diagnosis and treatment are the best ways to achieve the best results.
Why does this `(HLH)` occur? What are the reasons?
Simply put, `(HLH)` is caused by the immune system becoming overactive or malfunctioning. As we discussed earlier, there are two types of `(HLH)`, and the causes of each are different. But in both cases, two types of immune system cells, called `histiocytes` and `T cells`, are produced in excess and instead of attacking an enemy such as a virus from outside, they attack our own body. The symptoms of `(HLH)` occur because these white blood cells do not have the instructions in their DNA to do their job properly.
Causes of primary `(HLH)`:
Primary `(HLH)` is caused by a genetic mutation. There are several genes that affect this:
- `CD27`
- `ILK`
- `LYST`
- `PRF1`
- `RAB27`
- `SH2D1A`
- `STX11`
- `STXBP2`
- `UNC13D`
These genes are the ones that tell our cells to make proteins. These proteins help our immune system to destroy foreign invaders like bacteria and viruses and keep us healthy. However, if there is a mutation in one of these genes, the cells do not receive the complete instructions to make these proteins. Then the proteins that are made are incomplete, or they cannot do their job properly inside the body. These gene mutations are inherited from both parents at conception. This is called an ``autosomal recessive pattern.''
Causes of secondary `(HLH)`:
Secondary `(HLH)` is an acquired condition. This means that it is not a genetic predisposition that is present at birth, and there is no need for a family history. It is caused by an abnormal response of the immune system. Research is still ongoing to determine why this happens.
Sometimes, secondary ``HLH'' can be triggered by a medical condition. Such conditions include:
- Epstein-Barr virus (EBV) infection.
- Other bacterial, viral and fungal infections.
- Weakening of the immune system.
- An autoimmune condition.
- An autoinflammatory disease.
- Rheumatological diseases (e.g. juvenile idiopathic arthritis).
- Metabolic disorders.
- Cancer (e.g. non-Hodgkin lymphoma).
How do doctors diagnose the condition `(HLH)`?
If a doctor suspects that you have HLH, they will first do a physical exam. They will then order several tests to learn more about your symptoms. The doctor will look for the following diagnostic criteria:
- Fever.
- Enlarged spleen.
- Low levels of red blood cells, white blood cells, or platelets in the blood (cytopenia).
- High levels of a type of fat called triglyceride in the blood (hypertriglyceridemia) or low levels of a protein (fibrinogen) that helps blood clot (hypofibrinogenemia).
- Damage or destruction of blood cells in the bone marrow (`hemophagocytosis`).
- Decreased T cell activity in the blood.
- Increased levels of `ferritin` in the blood (`ferritinemia`).
- Increased levels of `soluble interleukin-2 receptor (sCD25)` in the blood.
If you have at least five of these symptoms, your doctor may suspect HLH.
Tests to identify `(HLH)`:
Some tests that can help diagnose `(HLH)` are:
- Genetic testing (especially if primary (HLH) is suspected).
- A complete blood count.
- Additional blood tests to check for `ferritin`, `triglycerides` levels, signs of infection, and how the blood is clotting.
- Liver function test.
- A bone marrow biopsy.
What are the treatments for `(HLH)`?
There are several treatments for `(HLH)`. These may vary depending on the type of disease, severity, and the patient's condition:
- Medicines to treat infections (antibiotics or antivirals).
- Medicines to reduce the activity of the immune system (immunosuppressants or cytokine inhibitors).
- Treating or managing underlying medical conditions (for example, chemotherapy for cancer).
- Blood transfusion.
There is a new drug called `Emapalumab (Gamifant®).` It is a `gamma-blocking antibody.` It is approved for use in infants and adults with `(HLH)`.
If medications or management of the underlying disease do not work, doctors may consider an allogeneic stem cell transplant. This involves replacing your dysfunctional stem cells (from your bone marrow) with healthy stem cells from a donor. This is usually preceded by high-dose chemotherapy or radiation to kill off the unhealthy stem cells. This procedure is very risky, and there are many side effects . So your doctor will explain everything to you so you can make an informed decision about your health.
Is there a way to prevent the formation of `(HLH)`?
In reality, there is nothing we can do to prevent the development of `(HLH)`, as the causes are beyond our control. However, there are some things we can do to protect ourselves from things like infections that can cause secondary `(HLH)`:
- Eat a well-balanced diet and exercise regularly.
- Stay away from people with viral diseases.
- Wear protective gear to prevent injuries.
- If wounds occur, clean them properly to prevent infection.
- Good management of underlying medical conditions.
What is the prognosis of (HLH)?
If the disease is diagnosed and treated early , a good or fairly good outcome can be expected, depending on the severity of the symptoms. However, if left untreated, ``HLH`` is life-threatening . It can lead to organ failure and even death within a few months.
Your doctor will explain the diagnosis and treatment options for your symptoms to you, as well as the risks and side effects of the treatments.
Many people who identify as having (HLH) seek support for themselves and their families. This means talking to a mental health counselor , genetic counselor, or social worker to plan how to live with the condition, what the risks are, and what the outcomes will be.
Can `(HLH)` be completely cured?
With proper treatment and care, the condition `(HLH)` can go away. However, it can also come back if it is triggered again. Some people have been able to prevent the recurrence of `(HLH)` through `(Stem cell transplantation)` and avoid the life-threatening consequences. Further research is being done on this.
When should I see a doctor?
If you have symptoms of `(HLH)`, see a doctor immediately . Don't delay, as early diagnosis and treatment are the best ways to get better. If you have severe symptoms like difficulty breathing, loss of consciousness, or seizures, you should go to an emergency room immediately .
What questions should I ask the doctor?
- What tests do I need to do?
- What treatments do you recommend?
- What are the side effects of the treatment?
- How is my life expectancy?
Finding out that you or a loved one has a rare, life-threatening condition can be very distressing and painful. Talking to a mental health counselor , genetic counselor, or your doctor can be a great help. They can help you learn more about how to cope with the condition, how to care for yourself and your family, and about treatment and the outlook. If you have questions during this difficult time, ask for help from those close to you or your healthcare team.
The most important thing to remember (Take-Home Message)
(HLH) is a serious but rare condition caused by an abnormal function of our immune system. In this, our own body's cells attack us. There are two main types: primary (HLH) which is caused by genetic causes, and secondary (HLH) which is caused by other diseases.
Symptoms vary, but you should be cautious if you have persistent fever, skin lesions, or enlarged liver/spleen. If you experience severe symptoms such as difficulty breathing or seizures, seek medical attention immediately.
Early diagnosis and treatment are essential. Treatment options vary depending on the type of disease. Sometimes, it may be necessary to resort to things like a stem cell transplant.
Although there is no surefire way to prevent this, following general health habits can reduce the risk of secondary `(HLH)`. In a situation like this, it is very important to stay mentally strong and get the necessary support. You are not alone, don't hesitate to ask for help.
` HLH, Hemophagocytic Lymphohistiocytosis, Immune system, Genetic diseases, Infections, Fever, Symptoms
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