Waldenstrom's macroglobulinemia: symptoms, causes, prognosis

Hereditary blood diseases are rare, but they pose a great danger to humans. One of these diseases is Vandelstrom's macroglobulinemia.

How is it characterized?

Under this disease in modern medicine is understood hereditary hematologic syndrome, accompanied by the presence in the blood of macroglobulin. This protein is formed as a result of the activity of monoclonal B-lymphoid elements of blood (B-lymphocytes).

Normally, these cells are responsible for the synthesis of M-globulin in the blood. When the bone marrow function is disturbed (often with the development of the tumor process), the amino acid composition and the gene sequence change, which leads to the synthesis of macroglobulin, i.e. Waldenstrom's macroglobulinemia develops.

The disease is quite rare, about 3 cases per million people. It develops mainly in men over the age of 55. Up to 40 years, this pathology is practically not found.

How does the disease manifest itself at the cellular and tissue levels? What structures are affected first and what happens as a result?

Pathogenesis of the disease

The pathogenesis of this disease is based on the multiplication of cells of a malignant clone of plasma elements capable of producing immunoglobulins of class M. These cells penetrate the bone marrow, liver, spleen, where the pathogenic macroglobulin begins to multiply and secrete. Thus, Waldenstrom's macroglobulinemia develops.

Accumulation of pathogenic protein in the blood leads to the development of its viscosity. As a result, the rate of blood flow through the vessels decreases, which leads to its stagnation. In addition, plasma clotting factors are suppressed (by enveloping and inactivating them with macroglobulins). Because of this, normal thrombus formation is disrupted, which ultimately leads to increased bleeding.

Visually, if you study under the microscope the cells of the bone marrow, you can see there clusters of "plasma" lymphocytes, a large number of mature B-lymphocytes and secreting mediators of inflammation of the mast cells. All these cells indicate that Waldenstrom macroglobulinemia takes place.

Symptoms

How is it clinically possible to suspect the development of this disease?

First of all, patients will complain about nonspecific symptoms - general weakness, low-grade fever for a long time, sweating, weight loss for no apparent reason.

The main symptom, on the basis of which we can suspect that the development of Vandelstrom's macroglobulinemia, is increased bleeding from the nose and mucous membrane of the gums. Much less frequently observed subcutaneous bruises and bruises.

Over time, the development of hepatosplenomegaly and lymphadenopathy (enlarged lymph nodes) is possible. It is also possible to develop complications of macroglobulinemia.

If there is no timely medical assistance, there is a risk of coma in the patient and even death (however, patients usually die not so much from the development of Waldenstrom's macroglobulinemia). The causes of their deaths are the result of developed complications.

Complications of the disease

What can complicate the disease?

First of all, the cardiovascular system is involved in the pathological process, namely small vessels - capillaries, arterioles and venules. Due to reduced blood flow, retinopathy and nephropathy are observed. The kidneys are affected. In this case, the development of occlusion of glomerular vessels and urolithiasis with deposition of urates is characteristic.

Waldenstrom's macroglobulinemia is characterized by a decrease in immunity and the addition of an opportunistic infection that complicates the course and diagnosis of the underlying disease.

As the process progresses, oppression of virtually all germs of the hemopoiesis and the development of pancytopenia are noted. Characteristic development of amyloidosis and damage to this pathological protein of the blood vessels of the liver and spleen, which further worsens their already disturbed function.

Diagnostics

What indicators will help to understand that macroglobulinemia has developed?

First of all, you should pay attention to the general blood test. The main indicators that characterize the disease will be an increase in ESR and the formation of specific "coins" - stuck together erythrocytes. The leukocyte formula usually indicates an increased number of lymphocytes and the appearance in the analysis of immature forms of leukocytes.

Immunoelectrophoresis is indicated for confirmation of the diagnosis. After carrying out of the given research it is possible to reveal the raised quantity in a blood of immunoglobulins of class M.

Monoclonal immunoglobulins are detected in the blood after the addition of labeled sera.

Additional but not specific symptoms are enlargement of the liver and spleen, detection of amyloid in renal capillaries with biopsy, and a decrease in the number of plasma clotting factors (in particular, factor 8).

Treatment

In the early stages of the disease, if there is no significant lesion of internal organs, a specific treatment is not indicated. Often such patients are on dispensary supervision at a local hematologist.

With the appearance of the first symptoms and confirmation that the disease - Waldenstrom's macroglobulinemia, begin a specific therapy with cytostatics. For treatment use such drugs as "Chlorbutin", "Cyclophosphanum". They have a cytostatic effect and suppress the activity of the malignant B-lymphocyte clone.

Assign in the first place "Chlorbutin" for 6 mg daily inside for 3-4 weeks. The increase in dose is fraught with the development of bone marrow aplasia. After passing the main course of treatment appoint maintenance doses of the drug (2-4 mg) every other day.

To improve the rheological parameters of the blood, plasmapheresis is used. The course of treatment with plasmapheresis is carried out during the use of cytostatics. The procedure shows the removal of up to 2 liters of plasma, replacing it with a donor, inactivated.

Prevention

Since the disease is hereditary, it is difficult in any way to affect its development, because it is already embedded in the genes. The only way to avoid its development is the timely diagnosis of the disease and a well-designed treatment plan.

Indirect influence on the disease can be observed with a healthy lifestyle, quitting smoking and alcohol, restricting smoked and spicy dishes.

Since the disease is genetic, then some harmful conditions can also provoke its development - work with aniline dyes, paints, varnishes.

Frequent viral infections are also capable of altering the human genome. Timely treatment of such diseases will help prevent changes in genes and prevent the development of macroglobulinemia.

Preventive measures include familiarizing patients with the characteristics of the disease and agitating them to follow healthy lifestyle activities.

Prognosis of the disease

What awaits the patients who developed Waldenstrom macroglobulinemia? The prognosis of the disease depends on the severity of the disease, the development of complications and the timeliness of the treatment begun.

If the disease is at an early stage of development, in most cases it is possible to prevent its progress. Such patients, even if they do not have a chance for a complete cure, use of maintenance doses of cytostatics still allows to significantly increase the duration of their life.

Much worse things are in those who have had a complicated Waldenstrom macroglobulinemia. Symptoms, the prognosis for which is extremely uncomfortable - amyloid damage to the liver and kidneys, frequent bleeding and the development of paraproteinemic coma. If you do not provide timely help to such patients, the likelihood of a fatal outcome is high.

The average life expectancy in patients with this disease is about 4-5 years. With a properly designed treatment plan, it is possible to increase it to 9-12 years.

Danger of disease

Given that the disease develops quite rarely, it is extremely difficult to suspect its development to a person who has not met with him. Given that the district therapists come into contact with the patient first of all, it is on their shoulders that they are responsible for timely and suspected Waldenstrom macroglobulinemia. What is this disease, not all doctors will remember, but to think that the patient has this particular pathology, considering all its clinical manifestations, should any therapist.

In the future, this patient will be hematologists, but the primary diagnosis lies solely on the shoulders of doctors at polyclinics.

The untimely determination of this disease leads to severe consequences when chemotherapy is no longer effective. That's why you should know about this disease all, so as not to miss it and not bring it to a run-down state.