Lymphoproliferative syndrome is a disease that includes a number of different disorders. Lymphoproliferative syndrome represented an autoimmune disease. The disorder is sometimes referred to by the abbreviation ALPS or the synonymous term Canale-Smith syndrome. In numerous cases, lymphoproliferative syndrome begins in childhood. Typically, various lymphoproliferative syndromes, although not malignant, are chronic.
What is lymphoproliferative syndrome?
Lymphoproliferative syndrome belongs to a group of diseases in which lymphocytes increase greatly as their production is increased. The medical term for this phenomenon is proliferation. In the majority of cases, it is an impairment of the function of the human immune system. Basically, the lymphoproliferative syndrome belongs to the so-called lymphoproliferative diseases. These include, for example, hepatosplenomegaly, lymphadenopathy, and hypergammaglobulinemia. In the lymphoproliferative syndrome, there is an increased concentration of double-negative T lymphocytes. If adults develop the lymphoproliferative syndrome, the risk of malignant lymphomas, for example Hodgkin’s disease or T-cell lymphomas, increases. The incidence of the disease is largely unknown at this time. Lymphoproliferative syndrome is inherited by 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 lymphoproliferative syndrome.
Causes
The causes of lymphoproliferative syndrome are primarily genetic. This is because the disease is passed on to offspring through mutations on a specific gene. This is usually an autosomal dominant or an autosomal recessive mode of inheritance. In addition, autoimmune disorders are under discussion 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. Along with this, various symptoms and disturbance patterns are possible.
Symptoms, complaints, and signs
The complaints that occur in the context of lymphoproliferative syndrome are diverse and vary from case to case. To date, more than 220 cases have been reported in which individuals have developed lymphoproliferative syndrome. These diseases are spread all over the world. The typical symptoms of lymphoproliferative syndrome include severe swelling of the lymph nodes, which are generalized and usually located axillary or cervical. In addition, swelling of the lymph nodes is also possible in the intra-abdominal or mediastinal region. The characteristic symptoms of the disease are primarily seen in children. Intermittent infections may cause either severe swelling of the lymph nodes or a reduction in size. In addition, it is characteristic of lymphoproliferative syndrome that the majority of affected individuals have hepatomegaly. Other autoimmune disorders also occur in numerous affected patients. These are often hemolytic anemia or polyclonal hypergammaglobulinemia. In addition, so-called autoimmune thrombocytopenias and neutropenias are sometimes seen. At the time of manifestation of the first symptoms of the disease, affected patients are on average between ten months and five years old. If the lymphoproliferative syndrome begins later, for example, not until adulthood, the probability for the occurrence of malignant lymphomas increases enormously.
Diagnosis and course of the disease
If typical symptoms of lymphoproliferative syndrome appear, it is advisable to inform a physician about the symptoms. In this context, the primary care physician is a suitable first point of contact, who will refer the patient to a specialized physician if necessary. The first step in establishing a diagnosis is to take the patient’s medical history. This is an intensive discussion between the attending physician and the patient. The symptoms, characteristics of the person’s lifestyle, and any past illnesses are discussed and correlated with one another.If very typical symptoms are also present, it is already possible to make a tentative diagnosis. Crucial indications here are, for example, relative or absolute lymphocytosis of T or B cells and polyclonal hypergammaglobulinemia. Laboratory analyses show increased frequencies of a certain type of T lymphocytes. A so-called flow cytometric examination is used. In addition, many affected individuals exhibit eosinophilia as well as autoantibodies. These are mainly antinuclear and anticardiolipin antibodies. In addition, antibodies are formed in response to polysaccharides only to a limited extent.
Complications
Primarily, this syndrome results in relatively severe swelling of the patient’s lymph nodes. This swelling may also be associated with pain, so that the quality of life of the affected person is reduced. Children in particular can suffer from this disease. Furthermore, autoimmune disorders also occur, so that infections or inflammations occur more often and more easily. As a result, the life expectancy of the affected person may also be limited. Furthermore, the disease can also lead to consequential damages in adulthood and in this case cause various complaints. Since the complaints are very diverse, a general course of the disease is usually not predictable. Those affected can be treated with the help of medication, and there are no particular complications. With early and complete treatment, the life expectancy of the affected person is not reduced by the disease. If the patient suffers from a tumor, it must be removed. Whether this will lead to complications or other complaints cannot generally be predicted either. Furthermore, patients are dependent on various preventive examinations.
When should one go to the doctor?
Lymphoproliferative syndrome must be diagnosed and treated promptly by a physician. If pain, swelling of the lymph nodes, and other typical symptoms of disease occur, medical advice is needed. Infections or skin changes occurring in the meantime must also be clarified, as there is an increased risk of blood poisoning. Affected persons are best advised to consult their [[family doctor]] directly, at the latest when the symptoms become more severe or their well-being is considerably impaired as a result of the symptoms. Medical advice is already necessary at the first signs of an autoimmune disorder. Persons suffering from a lymphoproliferative disorder should consult the physician in charge and arrange for a comprehensive diagnosis. If the causative disease is diagnosed at an early stage, serious complications can often still be avoided. For this reason, medical advice should be sought as soon as the first signs of the disease appear. Persons suffering from genetic mutations, malignant lymphomas such as Hodgkin’s disease, or any other disease of the lymphatic system must consult a physician immediately. Depending on the symptom picture, the correct contact is the lymphologist, an internist or a specialist in genetic diseases.
Treatment and therapy
Treatment of lymphoproliferative syndrome is specific depending on the individual case. Autoimmune disorders receive standard treatment. In this process, affected patients usually receive corticosteroids. In order to detect potential tumors in time, regular check-ups with a specialist are necessary. The lymph nodes must also be measured at set intervals and checked for changes. With increasing age of the affected patients, benign lymphoproliferations increasingly improve. At the same time, the likelihood of malignant lymphoma increases, which is why cytoreductive treatment should be carefully weighed.
Outlook and prognosis
Lymphoproliferative syndrome has an unfavorable prognosis. The immune system disorder is based on a disruption of human genetics. Because this cannot be altered for legal reasons, physicians focus on treatment and therapy of the symptoms that occur. There is no recovery in patients with this disease. As a special feature of the syndrome, the individual manifestation must be taken into account when making a prognosis. In the case of a mild course of the disease, the administration of medication is usually sufficient to bring about relief from the symptoms.Regular check-ups and also long-term therapy can be applied so that the patient’s quality of life is improved. In the case of a severe course of the disease, secondary disorders develop. A tumor disease may develop, potentially endangering the patient’s life. If left untreated, cancer cells can divide and spread in his organism. 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 treatment becomes. Regardless of the course of the disease, states of emotional distress can occur. This increases the risks for the development of a mental disorder. This circumstance must be taken into account when making a prognosis.
Prevention
Lymphoproliferative syndrome is inherited and is due to a genetic defect. For this reason, there are no effective ways to prevent the disease. Instead, it is of great importance to consult a physician in case of symptoms. This will initiate appropriate measures for therapy after establishing the diagnosis.
Aftercare
Various complications and complaints may occur with this syndrome. In this case, the affected person should see a doctor at a very early stage so that the complaints do not worsen further and so that no further complications occur. As a rule, self-healing is not possible. Most of those affected suffer first and foremost from a severe swelling of the lymph nodes. They also experience the general symptoms of flu or a cold, so that most patients feel unwell and are permanently tired or listless. Likewise, patients often no longer take an active part in everyday life and therefore suffer from a significantly reduced quality of life. In this syndrome, disorders of the immune system also occur. Thus, the affected persons very often suffer from various diseases and from infections. This disorder usually also reduces the life expectancy to about ten years. At the same time, the parents or relatives also suffer from severe psychological upsets or depression. Therefore, if there is a desire to have children, genetic testing and counseling can be done to prevent the syndrome from recurring in the descendants.
What you can do yourself
Patients suffering from lymphoproliferative syndrome can support medical therapy by strengthening the immune system. Well-known general measures such as exercise, a balanced diet, and avoiding stress are effective. If, at the same time, attention is paid to 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 in the first months of life. Therefore, treatment focuses on the parents and relatives, who can undergo trauma therapy or share strategies for coping with grief with other affected parents. Attending a specialized center increases understanding of the disease and thus facilitates acceptance of the severe suffering. If the prescribed medication causes side effects or interactions, the family doctor must be consulted. Medications should be adjusted as soon as possible to reduce the risk of long-term effects and also to optimally support recovery. If growths or unusual pain are noticed, the physician must be informed. There may be an underlying tumor that needs to be removed.
