Waldenstrom’s disease, also known as Waldenstrom’s macroglobulinemia, is one of the leukemias, more specifically one of the lymphomas. The slowly progressing disease is rather rare and mostly affects older patients, patients under the age of 40 are affected only in exceptional cases.
What is Waldenstrom’s disease?
Waldenstrom ‘s macroglobulinemia is a malignant disease of the white blood cells, named after the Swedish doctor Jan Waldenstrom. He first described the disease in the 1940s. See growtheology for Comprehensive Guide to Rupture of the Spleen.
In Waldenstrom’s disease, there is an uncontrolled multiplication of B lymphocytes, which belong to the white blood cells, the leukocytes. This results in a large number of functionally disturbed B lymphocytes. B lymphocytes play an important role in the immune system. They are responsible for the production of antibodies, the so-called immunoglobulins. The disturbed B-lymphocytes in Waldenstrom’s disease produce one of these immunoglobulins, the immunoglobulin M (IgM) in large quantities.
However, this IgM produced by the degenerated cells has no function. In this case one speaks of a paraprotein and in the case of the increased occurrence of paraproteins in the blood of a paraproteinemia. Like most other blood cells, B lymphocytes are formed in the bone marrow. However, since an abnormal number of B lymphocytes are formed in Waldenstrom’s disease, they infiltrate the bone marrow and displace the stem cells from which the other blood cells are formed. However, the degenerated B lymphocytes can also infiltrate other organs such as the spleen, the lymph nodes or the liver.
Causes
Waldenstrom’s disease is a rare disease. It occurs about once per 100,000 inhabitants per year in Germany. Most patients are over 60 years old at the time of diagnosis, and Waldenstrom’s disease is rarely diagnosed in patients younger than 40 years of age.
As with most forms of leukemia, the cause of Waldenstrom’s macroglobulinemia is still unclear. However, various triggering factors are discussed. Scientists assume that various chemicals, including benzene in particular, can lead to disorders in blood formation. The same applies to cytostatics. It is not uncommon for tumor patients to develop leukemia after treatment with cytostatic drugs. Something similar is observed with ionizing radiation. In medicine, ionizing radiation is used, for example, in X-rays or in radiation therapy in cancer treatment.
Viruses are also suspected to play an important role in the development of leukemia and tumors. Above all, hepatitis B and C viruses, human papilloma viruses and the Epstein-Barr virus should be mentioned here. A genetic predisposition and psychogenic factors are also discussed as triggers or causes of leukemia.
Symptoms, Ailments & Signs
Waldenstrom’s disease often goes undetected and is usually an incidental diagnosis during routine blood tests. The symptoms of the disease are caused on the one hand by the infiltration of the bone marrow and organs and on the other hand by the paraproteinemia.
Due to the infiltration of the bone marrow, the production of the other blood cells is severely restricted. The lack of red blood cells leads to anemia with the typical anemia symptoms such as severe tiredness, paleness, shivering, difficulty concentrating, headaches or dizziness. Platelets are also no longer produced in sufficient quantities. Platelets are blood platelets and an important part of blood clotting.
If there are too few platelets in the blood, there is an increased tendency to bleed, as in Waldenstrom’s disease. This shows up, for example, in frequent nosebleeds or the increased occurrence of bruises. In Waldenstrom’s disease, immunoglobulins are produced, but they have no function. There is a lack of functioning antibodies. The result is an increased tendency to infection. About two thirds of all Waldenstrom patients complain of polyneuropathies, i.e. sensory disturbances such as tingling, burning, pins and needles or lack of perception in the extremities.
This is caused by the disturbed immunoglobulins that are deposited in the nerves. The immunoglobulins can also cause liver swelling, lymph node swelling or punctate skin bleeding. The overproduction of paraproteins also thickens the blood so that it can no longer flow as quickly. This manifests itself, among other things, in non-specific symptoms such as weakness, tiredness or loss of appetite. Loss of vision or hearing can also be caused by this so-called hyperviscosity syndrome.
Diagnosis & course of disease
The diagnosis of Waldenstrom’s disease is made by various laboratory, genetic and immunological tests. The abnormal and greatly increased immunoglobulin M is detected in the laboratory using protein electrophoresis. A bone marrow puncture is performed, with the bone marrow aspirate showing a strong increase in B lymphocytes. These lymphocytes also have a specific genetic mutation. Imaging methods such as computed tomography or magnetic resonance imaging are used to determine the extent of the infiltrations in the body.
The disease progresses slowly without treatment. With treatment, the median survival time is 7.7 years, which means that half of all patients have died within this time from the time of diagnosis.
Complications
In most cases, Waldenstrom’s disease is diagnosed only through a random examination, so that early treatment is usually not possible. Those affected suffer from severe anemia and thus also from tiredness and paleness. The resilience of those affected is also significantly reduced by the symptoms and exhaustion occurs.
Patients also suffer from concentration disorders and severe dizziness. Headaches occur, and children in particular can be affected by these symptoms in their development. The patient’s quality of life is significantly reduced by Waldenstrom’s disease. Not infrequently, those affected also suffer from nosebleeds and paralysis or other sensory disturbances.
Bleeding of the skin or a loss of appetite can also occur, further restricting the affected person’s everyday life. Unfortunately, there is no causal therapy for Waldenstrom’s disease. However, the symptoms can be limited relatively well with the help of medication. Complications do not occur here and there is always a positive course of the disease. Life expectancy is also usually not reduced or restricted if treatment is successful.
When should you go to the doctor?
A doctor should be consulted if the feeling of illness persists or worsens. If there is diffuse discomfort, inner restlessness or a loss of well-being, a visit to the doctor is advisable. Since the disease is usually only discovered by chance, it is necessary to pay special attention to physical changes and impairments in coping with everyday life. The risk group for Waldenstrom’s disease includes women aged 40 and over. In particular, they should consult a doctor in the event of irregularities or changes. Problems with sleeping, headaches, or a decrease in mental and physical performance are causes for concern.
In the case of disturbances in concentration and attention, dizziness or vomiting, it is necessary to clarify the symptoms. The formation of bruises or other skin changes, a sudden tendency to bleed and irregularities in the menstrual cycle should be discussed with a doctor. Fatigue, fatigue and rapid fatigue indicate health problems and should be examined.
If the tendency to infections increases, if there are sensory disorders on the skin, a numbness or a tingling sensation on the body, a doctor is needed. Pale appearance, problems with blood flow, or changes in heart rhythm are causes for concern. If the symptoms persist for several weeks, a doctor should be consulted.
Treatment & Therapy
Treatment is only given when the disease causes symptoms. The goal of therapy in Waldenstrom’s disease is not to cure the disease, but to eliminate or alleviate the symptoms. This is referred to as a palliative therapy approach. A combination of cytostatics and cortisone is used.
If there are a lot of IgM in the blood and thus impair the flow properties of the blood, plasmapheresis can also be carried out. The blood plasma and thus also the paraproteins contained therein are exchanged with a plasmapheresis device.
Outlook & Forecast
If left untreated, Waldenstrom’s disease progresses slowly. Since there are not enough functional leukocytes in the body, an antibody deficiency syndrome occurs, which is associated with a weakened immune system and an increased risk of infection. With up-to-date therapy, the mean survival time is 7 to 8 years after the initial diagnosis was made. However, some of those affected live for more than 20 years with a high quality of life.
The individual prognosis depends on various factors. The prognosis depends on which risk group the sick person belongs to. The average 5-year survival rate for high-risk patients is 36 percent, and for low-risk patients it is already 87 percent. According to the prognosis index of the International Scoring System for Waldenstrom’s Macroglobulinemia (ISSWM), parameters with a negative impact on the prognosis are age over 65 years, a reduced hemoglobin value (below 11.5 g/dl), a severely reduced platelet count (below 100,000 /µl), an increased monoclonal protein concentration (over 70 g/l) and an increased blood beta-2-microglobulin level (over 3 mg/l).
In many of those affected before the age of 65, the disease can be reversed over the long term with therapy. Finally, therapy is continuously being expanded and improved with new drugs (including tyrosine kinase inhibitors, rituximab). Experts therefore assume that the forecast will improve significantly in the future.
Prevent
Since the causes of Waldenstrom’s disease are still not sufficiently understood, there are no preventive measures against the disease. In order to reduce the risk of illness, contact with chemical pollutants such as benzene should be avoided. Unnecessary exposure to radiation, for example due to increased X-ray examinations, should also be avoided.
Aftercare
In most cases, the aftercare measures for Waldenstrom’s disease are relatively severely limited or are not even available to the person concerned. Ideally, a doctor should be consulted as soon as the first symptoms and signs of the disease appear, so that no further symptoms or complications arise. Self-healing cannot occur in this case.
Since it is a genetic disease, the person concerned should have a genetic test carried out if they wish to have children in order to prevent Waldenstrom’s disease from reoccurring. Those affected are usually dependent on long-term treatment, with complete healing not being possible.
In their everyday lives, patients are therefore dependent on the support and help of their own family and friends and acquaintances. This can also prevent psychological problems or depression. It is not uncommon for Waldenstrom’s disease to have contact with other patients suffering from the disease. This often leads to an exchange of information, which can make everyday life easier for those affected. The disease may limit the life expectancy of those affected.
You can do that yourself
Waldenstrom’s disease is a very rare disease that must first be diagnosed and treated by a doctor. You may be able to take action yourself against the consequences of bone marrow infiltration. Those affected should also take measures to reduce the mental stress associated with the disease.
In addition to medical physiotherapy, physiotherapy or yoga can be carried out. Physical exercises help to strengthen the musculoskeletal system and relieve pain. However, it is also important to have enough rest and relaxation. This is the only way to ensure that the symptoms do not worsen. If an underlying hyperviscosity syndrome accompanies the main symptoms, drug treatment is necessary. The patient can support this by noting any side effects and interactions in a complaints diary and communicating the results to the doctor.
Finally, therapeutic help must always be sought for Waldenstrom’s disease. For example, patients can visit a self-help group and talk to other sufferers. Patients can also find support and information in internet forums or in specialist centers for the relevant diseases. All measures should be taken in consultation with the responsible orthopedist or internist.
