Lymphoproliferative Syndrome

Lymphoproliferative syndrome is a disease that encompasses a number of different disorders. Lymphoproliferative syndrome was an autoimmune disease. The disease is sometimes referred to by the abbreviation ALPS or the synonymous term Canale-Smith syndrome. In many cases, the lymphoproliferative syndrome begins in childhood. Various lymphoproliferative diseases are typical, which are not malignant but chronic.

Lymphoproliferative Syndrome

What is Lymphoproliferative Syndrome?

According to Whicheverhealth, the lymphoproliferative syndrome belongs to a group of diseases in the course of which the number of lymphocytes increases significantly as their production increases. The medical term for this phenomenon is proliferation. In the majority of cases, this is an impairment of the function of the human immune system.

Basically, the lymphoproliferative syndrome is one of the so-called lymphoproliferative diseases. These include, for example, hepatosplenomegaly, lymphadenopathy and hypergammaglobulinemia. In the context of the lymphoproliferative syndrome, there is an increased concentration of double-negative T-lymphocytes.

If adults fall ill with the lymphoproliferative syndrome, the risk of malignant lymphomas, such as Hodgkin’s disease or T-cell lymphomas, increases. The frequency of the disease is still largely unknown at the current time.

The lymphoproliferative syndrome is inherited in children in either an autosomal recessive or autosomal dominant manner. In principle, the disease can occur in any age group. In addition, different genetic mutations are responsible for the development of the lymphoproliferative syndrome.


The causes of the lymphoproliferative syndrome are primarily genetic. This is because the disease is passed on to offspring through mutations in a special gene. This is usually an autosomal dominant or an autosomal recessive inheritance.

In addition, autoimmune disorders are discussed in relation to the development of the disease. The formation of lymphocytes increases above the usual normal value, so that the concentration of these substances in the human organism increases. This is accompanied by various symptoms and disorders.

Symptoms, Ailments & Signs

The symptoms that occur as part of the lymphoproliferative syndrome are diverse and vary from case to case. To date, more than 220 cases have become known of people suffering from the lymphoproliferative syndrome. These diseases are spread all over the world.

The typical symptoms of the lymphoproliferative syndrome include severe swelling of the lymph nodes, which are generalized and usually located in the axillary or cervical region. In addition, swelling of the lymph nodes is also possible in the intra-abdominal or mediastinal area. The characteristic symptoms of the disease are manifested primarily in children.

Intermittent infections may lead either to a strong swelling of the lymph nodes or to a reduction in size. It is also characteristic of the lymphoproliferative syndrome that the majority of those affected have hepatomegaly. Other autoimmune disorders also occur in numerous affected patients.

This is often hemolytic anemia or polyclonal hypergammaglobulinemia. In addition, so-called autoimmune thrombocytopenia and neutropenia can sometimes be seen. At the time of the manifestation of the first symptoms of the disease, the affected patients are on average between ten months and five years old. If the lymphoproliferative syndrome begins later, for example in adulthood, the probability of the occurrence of malignant lymphomas increases enormously.

Diagnosis & course of disease

If typical symptoms of the lymphoproliferative syndrome appear, it is advisable to inform a doctor about the symptoms. The general practitioner is the first point of contact who, if necessary, will refer the patient to a specialist. In the context of the diagnosis, the anamnesis is the first priority.

This is an intensive conversation between the doctor treating you and the patient. The symptoms, characteristics of the person’s lifestyle and any previous illnesses are found out and related to each other. If there are also very typical symptoms, a suspected diagnosis can already be made.

The decisive indications here are, for example, the relative or absolute lymphocytosis of T or B cells and polyclonal hypergammaglobulinemia. Laboratory analyzes show increased frequencies of a certain type of T-lymphocytes. A so-called flow cytometric analysis is used.

In addition, many affected people have eosinophilia and autoantibodies. These are primarily antinuclear and anticardiolipin antibodies. In addition, antibodies are only formed to a limited extent in response to polysaccharides.


In the first place, with this syndrome there is a relatively strong swelling of the patient’s lymph nodes. This swelling can also be associated with pain, so that the quality of life of those affected is reduced. Children in particular can contract this disease. Autoimmune disorders also occur, which means that infections or inflammation occur more often and more easily.

As a result, the life expectancy of those affected may also be limited. Furthermore, the disease can also lead to consequential damage in adulthood and in this case cause various complaints. Since the symptoms are very diverse, a general course of the disease cannot usually be foreseen. Those affected can be treated with medication, with no particular complications.

If treated early and fully, the life expectancy of the affected person will not be reduced by the disease. If the patient has a tumor, it must be removed. It is also generally not possible to predict whether this will lead to complications or other complaints. Furthermore, the patients are dependent on various preventive examinations.

When should you go to the doctor?

A lymphoproliferative syndrome must be diagnosed and treated promptly by a doctor. If pain, swelling of the lymph nodes and other typical symptoms of an illness occur, medical advice is required. Infections or skin changes that occur in the meantime must also be clarified, as there is an increased risk of blood poisoning. It is best for affected persons to consult their [[family doctor] directly, at the latest when the symptoms become more severe or their well-being is significantly impaired as a result of the symptoms.

Medical advice is necessary at the first sign of an autoimmune disorder. Persons with a lymphoproliferative clinical picture should contact the doctor responsible and arrange for a comprehensive diagnosis. If the causative disease is diagnosed early, serious complications can often be avoided. That is why medical advice is required as soon as the first signs of illness appear. People suffering from genetic mutations, malignant lymphomas such as Hodgkin’s disease or any other disease of the lymphatic system must seek medical attention immediately. Depending on the symptoms, the right contact person is a lymphologist, an internist or a specialist in genetic diseases.

Treatment & Therapy

The treatment of the lymphoproliferative syndrome is specific to each individual case. The autoimmune disorders are treated as standard. The affected patients usually receive corticosteroids. In order to identify potential tumors in good time, regular check-ups by a specialist are necessary.

The lymph nodes must also be measured at specified intervals and checked for changes. With increasing age of the affected patients, the benign lymphoproliferations progressively improve. At the same time, the likelihood of malignant lymphoma increases, which is why cytoreductive treatment should be carefully considered.

Outlook & Forecast

Lymphoproliferative syndrome has an unfavorable prognosis. The disorder of the immune system is based on a disorder in human genetics. Since this cannot be changed for legal reasons, doctors concentrate on the treatment and therapy of the symptoms that occur. There is no recovery in patients with this condition.

As a special feature of the syndrome, the individual characteristics must be taken into account when making the prognosis. If the course of the disease is mild, the administration of medication is usually sufficient to alleviate the symptoms. Regular check-ups and long-term therapy can be used to improve the patient’s quality of life.

If the disease progresses severely, subsequent disorders develop. It can lead to the development of a tumor disease that is potentially life-threatening. If left untreated, the cancer cells in his body can divide and spread further. Metastases form and ultimately the affected person dies prematurely. With therapy, the prospects of alleviating existing symptoms are linked to the stage of the tumor disease.

The later a diagnosis is made, the more difficult the treatment becomes. Irrespective of the course of the disease, states of emotional stress can occur. This increases the risk of developing a mental disorder. This circumstance must be taken into account when making the forecast.


The lymphoproliferative syndrome is inherited and is based on a genetic defect. For this reason, there are no effective ways to prevent the disease. Instead, it is of great importance to consult a doctor in case of complaints. After the diagnosis has been made, the doctor will initiate appropriate therapy measures.


This syndrome can lead to various complications and symptoms. The affected person should see a doctor very early on, so that the symptoms do not get worse and no further complications arise. Self-healing is usually not possible. Most of those affected primarily suffer from severe swelling of the lymph nodes.

The general symptoms of a flu or a cold also occur, so that most patients feel unwell and are permanently tired or exhausted. Likewise, patients often no longer actively participate in everyday life and therefore suffer from a significantly reduced quality of life. Immune system disorders also occur with this syndrome.

Those affected often suffer from various diseases and infections. This disorder usually reduces life expectancy to around ten years. The parents or relatives also suffer from severe mental disorders or depression. If you wish to have children, a genetic examination and counseling can be carried out so that the syndrome does not appear again in the offspring.

You can do that yourself

Patients suffering from the lymphoproliferative syndrome can support medical therapy by strengthening the immune system. Known general measures such as exercise, a balanced diet and avoiding stress are effective. If at the same time attention is paid to an optimally adjusted medication, it may be possible to lead a relatively symptom-free life despite the syndrome.

In ALPS type I and type II, however, there is basically only a small chance of survival. Most children die within the first months of life. The treatment therefore focuses on the parents and relatives, who can undergo trauma therapy or exchange strategies for coping with grief with other affected parents. Visiting a specialist center increases understanding of the disease and thus makes it easier to accept the serious suffering.

If the prescribed medicines cause side effects or interactions, the family doctor must be consulted. The preparations should be adjusted as soon as possible in order to reduce the risk of long-term consequences and also to optimally support recovery. If growths or unusual pain are noticed, the doctor must be informed. There may be a tumor that needs to be removed.