Histiocytosis refers to abnormal proliferations of white blood cells. The most common histiocytosis is Langerhans cell histiocytosis.
What is histiocytosis?
Histiocytoses are rarely occurring different forms of disease in which there is a pathological proliferation of special white blood cells called histiocytes. Most patients suffer from Langerhans cell histiocytosis (LCH), also known as histiocytosis X. Other forms include Erdheim-Chester disease, juvenile xantogranuloma, and Rosai-Dorfman disease. While juvenile xantogranuloma and Rosai-Dorfman disease usually take a benign course, Erdheim-Chester disease affects multiple organs and the skeleton. Even the brain can be affected. Therefore, this form of histiocytosis is considered life-threatening. As already mentioned, Langerhans cell histiocytosis is the most common form of histiocytosis. In Germany, about 40 to 50 children are diagnosed with this form of histiocytosis every year. It is also known as Abt-Letter-Siwe syndrome, Hand-Schüller-Christian syndrome or eosinophilic granuloma. Between 70 and 80 percent of children with the disease are younger than ten years. Histiocytosis is much less common in adults, although there is some suggestion that its incidence is underestimated.
Causes
Histiocytoses represent diseases of the monocyte/macrophage system. These are body cells that form in the bone marrow and are found in all organs. They are important in fighting off foreign substances from the body. The various histiocytoses have in common that the histiocytes multiply pathologically in one or different organs. The causes of histiocytosis are unknown. Langerhans cell histiocytosis is not inherited and is not contagious. It almost always manifests in childhood. However, cases of the disease in adults have increased in recent years. Langerhans cell histiocytosis can be subdivided into three subtypes. These are Abt-Letter-Liwe syndrome, which usually presents in babies and young children; Hand-Schüller-Christian syndrome, which occurs mainly in young children; and eosinophilic granuloma, which arises on the bones and forms between the ages of 5 and 20 years.
Symptoms, complaints, and signs
The symptoms that occur with histiocytosis are manifold. However, there are definitely similar complaints, which can provide clues to the disease. The most common general symptoms include pain in the affected parts of the body, fatigue, fever, visual disturbances such as squinting or bulging eyes, increased incidence of infections, cough, breathing problems, severe thirst, and chronic middle ear infections. In addition, patients suffer from swelling, pale skin, diarrhea, urinary leakage, growth disorders, swollen gums, and loose teeth that not infrequently fall out. In addition, rashes resembling diaper eczema appear on the skin. Langerhans cell histiocytosis is generally considered a benign disease. In some cases, however, its course can be so severe that it assumes life-threatening proportions. In adult patients, there is often isolated involvement of the lungs or of individual bones. However, multifocal outbreaks of disease are also possible in them.
Diagnosis and course of disease
Because of the many different symptoms, it is not always easy to diagnose histiocytosis. Especially in the initial phase, misdiagnosis is not uncommon. However, if the suspicion of the disease is confirmed, tissue sampling (biopsy) takes place. During the analysis, care must be taken to clearly distinguish Langerhans cell histiocytosis from the other forms. Further examination methods include the taking of X-ray images and computer tomography (CT). X-ray examination can detect bone loss, while computed tomography can diagnose involvement of the lungs. An important clue for the diagnosis of histiocytosis X is the detection of a flat vertebra. In most patients, Langerhans cell histiocytosis takes a positive course. If the disease becomes chronic, it can lead to problems with the spine or loss of teeth.Some babies do not respond to treatment, which means that the disease can assume life-threatening proportions. Ultimately, no definitive statement can be made about a positive or negative course of the disease when treatment begins, so that each child is an individual case. In principle, the cure rate is approximately 70 percent.
Complications
As a result of histiocytosis, the affected person suffers from various complaints that drastically reduce the quality of life and significantly restrict the patient’s daily routine. As a rule, the patient experiences a reduced ability to work under pressure and severe fatigue. Furthermore, visual disturbances and hearing difficulties also occur, and in the worst case the affected person can go completely blind. It is not uncommon for middle ear infections to occur. Due to the weakened immune system, various diseases and infections occur more frequently. In children, growth disorders and further delayed development of the body may occur. The skin is usually covered with rashes and relatively pale. In many cases, histiocytosis also causes psychological upset or depression. As a rule, the treatment of histiocytosis always depends on the affected region. Surgical interventions or various creams and ointments can be used to eliminate the symptoms of histiocytosis. Furthermore, the patient has to give up smoking, for example, in order to have a positive course of the disease. In some cases, life expectancy is limited by histiocytosis.
When should one go to the doctor?
When symptoms such as fever, fatigue, and visual disturbances are noticed, often associated with nonspecific pain, histiocytosis may be underlying. A visit to the doctor is recommended if other typical symptoms such as breathing problems or severe thirst are added. If the symptoms increase in intensity and do not subside on their own, a physician must be consulted. Histiocytosis always requires medical treatment. Therefore, affected persons with persistent symptoms should consult a physician. Medical advice is needed at the latest when swelling, conspicuously pale skin and swollen gums are noticed. Since mostly babies and young children are affected, parents are advised to watch out for abnormalities, especially if other family members suffer from the disease. In case of serious complications such as infections or cardiovascular problems, it is best to call the emergency services. If in doubt, emergency medical services can be contacted first. The right contact person for histiocytosis is the family doctor or an angiologist. If there are symptoms of teeth and gums, the dentist can be consulted.
Treatment and therapy
Therapy for histiocytosis depends on the particular subtype that occurs. For example, if the disease is limited to a single section of bone, the option is to remove the focus by surgery. If the section is located in a part of the body that is not suitable for surgery, such as at a joint, radiation may be considered as an alternative. If histiocytosis occurs in multiple body sites, mild chemotherapy is administered. If lymph nodes are affected, they can be surgically removed. Langerhans cell histiocytosis may also resolve on its own in some patients without any specific treatment. If the skin is affected, on the other hand, the administration of cortisone is considered effective. For this purpose, creams or ointments containing the active substance are applied to the affected skin areas. Adult patients with isolated lung involvement must consistently refrain from smoking. Study results have shown that the nicotine contained in tobacco products triggers the lung infestation. Unless the disease is severe, no further therapeutic measures are necessary. However, there are still differing views on this among medical professionals. While children suffering from histiocytosis are treated in a university clinic, adult patients need to see different specialists.
Outlook and prognosis
Children have the best chance of recovery from histiocytosis. Under favorable conditions, freedom from symptoms is often achieved in them. With restructuring of living conditions as well as treatment, recovery can be documented in the majority of patients. Nevertheless, a chronic course of the disease can also develop in them.This is especially true in the case of an early onset of the disease. Problems of the spine or a loss of teeth are treated in various therapeutic approaches, but cannot be regenerated in the way they function under natural conditions. In severe cases, the course of the disease can be life-threatening. If the initiated therapy remains unsuccessful, there is a threat of a steady increase in health impairments, which can end with a fatal course. In adults, the prognosis is generally more favorable. Only rarely is there a threat to life or a shortening of the expected lifespan. If the physician’s guidelines are followed and smoking is incompletely avoided, significant relief of symptoms can be achieved with extensive treatment. Some patients already experience a significant improvement by changing their lifestyle habits. If the disease is in its initial stage, the patient often does not need to undergo medical treatment. Natural regeneration of the symptoms takes place, so that the patient is subsequently discharged from treatment as cured.
Prevention
Prevention of histiocytosis is not possible because it is inherited. In addition, its precipitating causes are not known.
Follow-up
As a rule, either very few or even no measures and options are available to the affected person during follow-up care. Affected persons are thereby dependent in any case on an early and above all on a fast diagnosis and treatment, so that further complications or complaints can be prevented. It is also not possible for the disease to heal itself, so treatment must always be carried out. Thereby, an early diagnosis with a quick treatment always has a very positive effect on the further course of this disease. In many cases, histiocytosis is treated by surgery. After such an operation, the affected person should in any case take it easy and rest. Efforts or other physical and stressful activities should be avoided. In many cases, a healthy lifestyle with a healthy diet also has a positive effect on the course of the disease. If possible, the person affected should also refrain from smoking and taking alcohol. Regular examinations of the body are also necessary in order to detect further damage to the body at an early stage. It is not uncommon for histiocytosis to reduce the life expectancy of the affected person.
What you can do yourself
Histiocytosis is always treated depending on the particular subtype. The measures that affected individuals can take themselves therefore depend on whether only a single section of bone is affected by the disease or several parts of the body. Langerhans cell hystiocytosis sometimes regresses on its own. The most important measure is then to have the blood values monitored by a doctor in order to be able to react quickly in the event of a relapse. In the case of extensive disease, chemotherapy is necessary, which can be supported by a healthy lifestyle. Further exposure to nicotine or alcohol should be avoided, if only because of the risk of interaction with the cytostatic drugs used. If the lungs are affected, it is particularly important to avoid cigarettes. Furthermore, during and after chemotherapy, rest and recuperation should be avoided, although exercise is permitted in moderation and with the doctor’s approval. Individual symptoms of histiocytosis can also be treated by the patients themselves. Rashes and eczema can be alleviated by increased hygiene and the use of suitable ointments. Drinking plenty of fluids helps against severe thirst. Breathing problems and coughing attacks can be reduced by inhaling a salt water solution. The doctor in charge is best able to answer the question of which specific measures are advisable.
