Histiocytosis X Explained

Histiocytosis X Explained

Histiocytosis X is a histiocytosis. The so-called Langerhans cells, which belong to the dendritic cells, are affected. As a rule, the disease is benign, although some severe forms with a fatal outcome are possible, especially in small children.

What is Histiocytosis X?

According to abbreviationfinder, Histiocytosis X is a tumor-like disease in which the Langerhans cells multiply in the form of granulomas. Langerhans cells should not be confused with the islets of Langerhans of the pancreas or Langhans cells. They are dendritic cells that have cytoplasmic extensions and therefore occasionally appear star-shaped.

The cytoplasmic extensions serve to search for antigens, which are then presented to the T-lymphocytes. In addition to the presentation of antigens, the mature Langerhans cells also stimulate the T lymphocytes, among other things. The Langerhans cells come from the bone marrow and are part of the skin and mucous membranes. In addition to the macrophages, the monocytes and the B lymphocytes, their main function is the presentation of antigens and the stimulation of the T lymphocytes.

If they multiply granulomatously, a histiocytosis develops. The so-called Birbeck granules appear as X-corpuscles in the electron microscope. This is where the term histiocytosis X comes from. The disease occurs in three different forms and mostly affects children and adolescents.

However, it is assumed that the disease in children often takes a particularly striking course. In adults, a significant number of unreported cases is likely. Histiocytosis X is diagnosed with a frequency of 1:200,000 to 1:2,000,000 especially in children.

Causes

The causes of histiocytosis X are not yet known. It occurs on lesions of the skin or mucous membranes. An abnormal immune response is assumed. The disease does not represent a malignant tumor. The course is usually benign. However, fatal courses occur in small children with a particularly aggressive form. It is a non-hereditary and non-contagious reactive disease.

Symptoms, Ailments & Signs

Histiocytosis X is a disease whose course cannot be predicted. Each person affected is an individual case. In principle, the disease is benign. However, it can also take a very malicious course. The granulomas are usually found in individual foci, although there are also progressive forms in which many organ systems are affected at the same time.

There are three forms of the disease:

  • The most common form is eosinophilic granuloma, accounting for 70 percent of cases. The eosinophilic granuloma occurs mainly between the ages of 5 and 20.
  • Hand-Schüller-Christian granulomatosis mostly affects children aged three to five years and Abt-Letterer-Siwe granulomatosis children aged one to three years. Both of the latter forms of histiocytosis X often lead to fatal forms.
  • The Abt-Letterer-Siwe syndrome is the most severe form of the disease. Its frequency is only about ten percent.

Fever, severe eczema, lymph node infiltration, anorexia, infiltration of the spleen and liver, anemia, tendency to bleed, increased susceptibility to infections and lung problems occur in small children. If the disease is not treated, the course is 90 percent fatal. Hand-Schüller-Christian syndrome is also a serious disease that is often fatal.

At around 20 percent, it is the second most common form of histiocytosis X. Affected children aged two to five years suffer from skeletal changes in the skull, ribs or pelvis, strabismus (squinting), vision loss, tooth loss with infiltration of the gums, chronic Ear infections, hormone disorders with pituitary infiltration and possibly with systemic involvement involving the lungs, spleen, liver, skin and lymph nodes.

In addition to unfavorable courses, spontaneous healing also occurs. By far the most common form of histiocytosis X, the eosinophilic granuloma, is usually benign and is characterized by painful tumors in the bones. Tumors in the stomach, on the skin and in the lungs can also occur. All tumors can regress spontaneously. Otherwise, treatment by excision, radiation and chemotherapy is very promising.

Diagnosis & disease progression

To diagnose histiocytosis X, dividing histiocytes in the skin are demonstrated histopathologically. The Langerhans granules can be visualized with an electron microscope. However, the exact diagnosis can only be achieved by MRI or CT examinations and by biopsy of the affected organs.

Complications

In the worst case, histiocytosis X can lead to the death of the patient. Children in particular are affected by the fatal outcome of the disease, which is why immediate treatment is necessary for them. If no treatment is initiated, histiocytosis X can also be fatal.

The patients suffer from a reactive high fever and anemia. There is also a weakened immune system and thus an increased susceptibility to infections. Those affected get sick more often and also suffer from lung problems. The disease can also damage the liver and spleen. It is not uncommon for children to suffer complete loss of vision and hearing damage as a result of histiocytosis X.

The everyday life of the patient is extremely restricted by these complaints and the quality of life is reduced enormously. The treatment of histiocytosis X always depends on the symptoms and complaints. It is therefore not possible to predict directly whether complications will arise. In most cases, however, surgical interventions are necessary to eliminate the symptoms. Life expectancy may also be reduced by histiocytosis X.

When should you go to the doctor?

If the child complains of pain in the body for several hours or days for no apparent reason, a doctor should be consulted to have the causes clarified. If bone or skull swelling occurs without a previous fall or accident, these are warning signs that must be followed up. If the swelling increases, a doctor must be consulted as soon as possible so that the causes can be determined. Since histiocytosis X can lead to death in severe cases, the child should be presented to a doctor as early as possible. If you have a fever or difficulty breathing, you need to see a doctor.

If there is an unusual tendency to bleed from minor injuries, there is cause for concern. If abnormalities of the skeletal system can be perceived during stretching movements, the observations should be discussed with a doctor. A doctor is required for loss of vision, problems or inflammation of the hearing organ and skin changes. If there are digestive irregularities, abnormal behavior in the child and dental problems, a doctor should be consulted for further examinations. Discomfort in the spleen, stomach, or lungs is uncommon and should be evaluated and treated. Although histiocytosis X can heal spontaneously, a visit to the doctor for clarification is advisable even if the symptoms are alleviated.

Treatment & Therapy

The treatment of histiocytosis X depends on the individual course of the disease. Some patients do not need any treatment at all because their symptoms resolve on their own. However, in other patients, healing without treatment is not possible. Local foci can be surgically removed and subsequently treated with radiation therapy and local cortisone administration. In most cases, however, a mild chemotherapy is followed after an operation and radiation treatment in order to avoid long-term effects.

Severe and extensive forms of the disease are often successfully treated with chemotherapy. Corticoids, interferon-alpha and cytostatics are administered as medication. Abt-Letterer-Siwe syndrome may require stem cell transplantation in addition to aggressive chemotherapy. Intensive chemotherapy is also often required for Hand-Schüller-Christian syndrome, which can sometimes even lead to spontaneous healing.

Outlook & Forecast

The prognosis of histiocytosis X depends on the form it takes. There are three forms of the disease such as eosinophilic granuloma, Abt-Letterer-Siwe syndrome and Hand-Schüller-Christian syndrome. However, these cannot be considered separately. The individual manifestations are an expression of the same disease with different courses.

Eosinophilic granuloma has the best prognosis. It affects children and adolescents between the ages of 5 and 20 years and is characterized by a local course with multifocal foci. At around 70 percent, eosinophilic granuloma is by far the most common form of histiocytosis X. The disease can often completely regress without treatment. In some cases, however, surgical interventions and radiation are necessary.

Accounting for about 10 percent of all cases, the Abt-Letterer-Siwe syndrome is the most severe form of histiocytosis X. The syndrome mainly affects small children up to the age of two years. In up to 90 percent of all cases, the Abt-Letterer-Siwe syndrome is quickly fatal. Only with intensive chemotherapy, which may have to be supplemented with stem cell therapy, is there a chance of survival.

The so-called Hand-Schüller-Christian syndrome occurs in about 5 to 40 percent of cases. It mostly affects younger children up to five years of age. This form of the disease often heals spontaneously. However, around 30 percent of those affected have a very poor prognosis due to systemic involvement of several organs.

Prevention

Measures to prevent histiocytosis X cannot yet be recommended because the causes of the disease are not known. In addition, most diseases appear in early childhood. Milder forms in adulthood may be so inconspicuous that there must be a larger number of unreported cases.

Aftercare

In the case of histiocytosis X, the affected person is usually first dependent on a comprehensive examination and diagnosis by a doctor. This is the only way to prevent further complications or complaints. Therefore, in the case of histiocytosis X, the focus is on early detection and treatment of the disease in order to avoid further deterioration of the symptoms.

Self-healing cannot occur in this case, although the person concerned has very few measures or options for aftercare available. In the worst case, if left untreated, the disease can even lead to the death of the affected person. This disease is usually treated by taking medication.

The affected person is also dependent on correct and, above all, regular intake in order to permanently relieve the symptoms and prevent further deterioration. Especially with children, parents should pay attention to the correct intake of medication.

Since the disease can also lead to the formation of tumors, regular examinations by a doctor are very useful. In very rare cases, histiocytosis X can also heal spontaneously. However, in most cases, the life expectancy of those affected is reduced by this disease.

You can do that yourself

Histiocytosis X does not always have to be treated. In some patients, the symptoms resolve on their own. However, there are only very limited opportunities for those affected to help themselves with this disease.

Since many sufferers are dependent on chemotherapy, they need strong support during this therapy. This should be done primarily by the family and by the parents. Those affected can also be accompanied at their meetings. Furthermore, talking to a therapist or a psychologist can prevent psychological problems and depression. Of course, discussions with other affected patients are also suitable here. Direct prevention of the disease is not possible.

Since those affected suffer from severe fever and an increased tendency to bleed due to histiocytosis X, they should take it easy on their bodies and not engage in strenuous activities. All sports should also be avoided to prevent injuries. In the case of surgical interventions, the doctor must be made aware of the high tendency to bleed in order to avoid complications. Due to the high susceptibility to infections and inflammations, increased hygiene measures are necessary to successfully avoid these as well.

Histiocytosis X