Introduction to Hemophagocytic Lymphohistiocytosis

Hemophagocytic lymphohistiocytosis is a disease affecting the immune system. The disease generally occurs with a very low frequency. Hemophagocytic lymphohistiocytosis is usually characterized by a severe course. It is also a so-called hyperinflammatory disease.

What is hemophagocytic lymphohistiocytosis?

According to abbreviationfinder, hemophagocytic lymphohistiocytosis is primarily characterized by fever that persists for more than a week. The body temperature rises to over 38.5 degrees Celsius.

Hemophagocytic lymphohistiocytosis is characterized by the main symptoms fever, skin changes and liver and spleen enlargement. Sometimes the lymph nodes of the affected patients also swell. Ascites or pleural effusions are also possible.

About 30 to 50 percent of all sick people die from the disease. Basically, hemophagocytic lymphohistiocytosis is divided into a primary and a secondary form. Primary hemophagocytic lymphohistiocytosis is also known as Farquhar’s disease.

It is rare and deadly for those affected. In principle, this form is counted among the genetic diseases. In many cases, there are familial clusters of this disease. However, sporadic occurrences are also possible. In the majority of cases, this disease begins in infancy.

The secondary form of hemophagocytic lymphohistiocytosis, on the other hand, is associated with various infections. In this case there is no genetic component. In addition, the disease can occur at any age.


The causes of the development of the disease differ depending on whether it is the primary or the secondary form of hemophagocytic lymphohistiocytosis. The primary form has primarily genetic causes. This leads to mutations in certain genes, so that the familial haemophagytic lymphohystiocytosis develops.

This in turn is divided into various subcategories. There are basically four different forms, which are characterized according to the localization of the genetic mutation. If secondary hemophagocytic lymphohistiocytosis is present, various infections are usually responsible.

Bacterial pathogens, viruses or even parasites should be mentioned in particular as potential triggers of the disease. In addition, the cells that are responsible for the formation of blood may degenerate. In addition, in some cases, certain autoimmune diseases such as systemic lupus or rheumatoid arthritis lead to the development of haemophagytic lymphohystiocytosis.

Because in the context of these diseases, both macrophages and T-cells are stimulated. The result of this activation is that more messenger substances are produced. This leads to a strong stimulation of T helper cells. They produce large amounts of inflammatory substances. These substances cause macrophages to multiply and spread in the liver, bone marrow and lymph nodes.

Symptoms, Ailments & Signs

Hemophagocytic lymphohistiocytosis is primarily characterized by fever that persists for more than a week. The body temperature rises to over 38.5 degrees Celsius. At the same time, the affected person’s spleen enlarges, a medical term known as splenomegaly.

Other symptoms can be determined primarily by means of blood analysis methods. For example, certain cell numbers in the blood are reduced, blood lipid levels are increased and the substance fibrinogen is reduced. Haemophagocytosis can also be detected. This is a special process in which macrophages digest blood cells.

This process takes place in the spleen, the marrow of the bones or the lymph nodes. Other symptoms include enlargement of the lymph nodes, edema, rashes on the skin and jaundice. In addition, there are often elevated levels of liver enzymes, an increased concentration of the substance ferritin and increased proteins in the blood of the affected patients.

At the same time, the concentration of sodium is reduced. If the disease occurs in children, there are also symptoms that indicate an impairment of the central nervous system. Typical complaints are, for example, stiffness in the neck, increased intracranial pressure and seizures. In addition, the proportion of proteins in the cerebrospinal fluid may be increased.

Diagnosis & course of disease

The first step is for the medical specialist to take an anamnesis. The diagnosis of hemophagocytic lymphohistiocytosis is based on the clinical symptoms and signs. Blood analyzes in particular provide important information about the presence of the disease. Based on typical changes in various parameters, hemophagocytic lymphohistiocytosis can be diagnosed with relative certainty.


Lymphohistiocytosis primarily leads to a weakened immune system. The affected person falls ill more often and there is a relatively strong fever. There is also an enlargement of the spleen, which is usually associated with pain. This enlargement can also permanently displace or squeeze other organs. Jaundice also occurs and rashes appear on various parts of the skin.

The patients also suffer from general tiredness and exhaustion and often show seizures. The intracranial pressure is increased, which can lead to severe headaches. This pain often spreads to the neck and back and can also lead to complaints in these regions. In most cases, the diagnosis of lymphohistiocytosis occurs relatively quickly, so that treatment can be initiated at an early stage.

A stem cell transplant is necessary to relieve the symptoms. Other medications are also used, although there are usually no particular complications. However, the further course of the disease depends on the underlying disease. Life expectancy can also be reduced.

When should you go to the doctor?

Hemophagocytic lymphohistiocytosis should be clarified immediately by a doctor. As soon as typical symptoms such as persistent fever or rashes on the skin are noticed, a visit to the family doctor or an internist is indicated. If other symptoms such as edema or signs of jaundice become noticeable, a doctor must be consulted on the same day. Medical advice is particularly needed when symptoms are severely affecting well-being and there is a risk of serious complications.

Enlarged lymph nodes, neck stiffness and severe pain should be examined and treated immediately. Signs of increased intracranial pressure and seizures must be clarified by an emergency doctor. The person concerned or a first responder should contact the emergency services and provide first aid at the same time. The patient then has to spend a few days to weeks in the hospital, depending on how the hemophagocytic lymphohistiocytosis progresses and what the underlying cause is. People who have had a viral or parasitic infection are particularly susceptible to immune system disease. Patients with systemic lupus or rheumatoid arthritis should also speak to their doctor if they have these symptoms.

Treatment & Therapy

Primary hemophagocytic lymphohistiocytosis can only be treated and cured by transplantation of stem cells. Because in this way the stimulation of the macrophages is prevented. In the secondary form of hemophagocytic lymphohistiocytosis, the focus is on treating the underlying disease.

Infections or autoimmune diseases are often responsible for the development of hemophagocytic lymphohistiocytosis. Here the drug dexamethasone is used together with etoposide. If hemophagocytosis is still occurring, what is called maintenance therapy is started.

This consists of the administration of etoposide, dexamethasone pulses and the substance cyclosporine A. Basically, the prognosis of the disease depends heavily on the causative disease.


Potential measures to prevent hemophagocytic lymphohistiocytosis are not known. In the case of the primary form of the disease, preventive measures are ruled out in principle due to the genetic causes. The secondary form can be prevented to the extent that the underlying diseases can be prevented.


In the case of hemophagocytic lymphohistiocytosis, maintenance therapy with medication takes place after the initial treatment. The further measures depend on the disease that triggered this clinical picture. There is no preventive therapy for the primary disease because it is genetic. In a secondary form, only preventive measures are possible in relation to the underlying disease.

The focus is therefore on early treatment by a doctor. Patients should therefore make an appointment as soon as possible so that they can get well again as quickly as possible. The typical symptoms are fever, severe headaches and skin rashes. They reduce the quality of life and make patients more susceptible to everyday stress. In some cases, those affected can hardly carry out their normal duties.

However, after properly taking the funds prescribed by the doctor, her condition improves after a period of recovery. The immune forces are initially greatly reduced, so the patients should take care of their bodies and not do any sports. At the same time, it is important to pay attention to possible interactions between the different drugs. Soothing ointments and thorough hygiene help against the rashes. If severe seizures occur, call an ambulance.

You can do that yourself

Since hemophagocytic lymphohistiocytosis is a serious disease, self-help is not the priority, but timely medical treatment. In order to improve their state of health and regain their accustomed quality of life, those affected seek medical attention as soon as the first symptoms appear. Patients suffer from unpleasant symptoms such as fever, headaches and skin rashes. As a result, the sick people are less resilient and often no longer able to meet their everyday obligations.

In order to improve their own health, patients take the medicines prescribed by their doctor as directed and rest at home. During the disease, the immune system is reduced, and the patients refrain from sports and other physical exertion. Due to the large number of symptoms, different medications usually have to be taken, so that the patients also pay attention to possible interactions between the active ingredients.

The skin rashes can be alleviated in some cases with ointments, whereby sensitive hygiene of the areas must also be ensured. In the event of severe seizures, which can occur with hemophagocytic lymphohistiocytosis, the patient calls an emergency doctor. The social environment must be informed about the disease.

Hemophagocytic Lymphohistiocytosis