Hereditary blood diseases are quite rare, but they pose a great danger to humans. One such disease is Vandelstrom's macroglobulinemia.
What is it characterized by?
Under this disease in modern medicine is understood the hereditary hematological syndrome, accompanied by the presence of macroglobulin in the blood. This protein is formed as a result of the activity of monoclonal B-lymphoid blood elements (B-lymphocytes).
Normally, these cells are responsible for the synthesis of M-globulin in the blood. When bone marrow function is impaired (often with the development of a tumor process), a change in the amino acid composition and gene sequence occurs, which leads to the synthesis of macroglobulin, i.e. Valdenstrom 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 practically does not occur.
How is the disease manifested 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 reproduction of cells of a malignant clone of plasma elements capable of producing class M immunoglobulins. These cells penetrate the bone marrow, liver, and spleen, where pathogenic macroglobulin begins to multiply and secrete. Thus, Waldenstrom macroglobulinemia develops.
The accumulation of pathogenic protein in the blood leads to the development of its viscosity. As a result, the blood flow velocity through the vessels decreases, which leads to its stagnation. In addition, plasma coagulation factors are inhibited (due to enveloping and inactivation of them with macroglobulins). Because of this, normal thrombosis is disrupted, which ultimately leads to increased bleeding.
Visually, if you examine bone marrow cells under a microscope, you can see there clusters of "plasma" lymphocytes, a large number of mature B-lymphocytes and secreting mediators of mast cell inflammation. All these cells indicate that Waldenstrom macroglobulinemia occurs.
Symptoms
How clinically can the development of this disease be suspected?
First of all, patients will complain of 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 Vandelstrom's macroglobulinemia has developed, is increased bleeding from the nose and mucous membrane of the gums. Subcutaneous bruising and bruising are much less common.
Over time, the development of hepatosplenomegaly and lymphadenopathy (swollen lymph nodes) is possible. It is also possible the development of complications of macroglobulinemia.
If timely medical care is not provided, there is a risk of coma in the patient and even death (however, patients usually die not so much because they developed Valdenstrom's macroglobulinemia). The causes of their death are the result of developed complications.
Disease complications
What can complicate this 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, the development of retinopathy, nephropathy is observed. The kidneys are affected. In this case, the development of occlusion of glomerular vessels and urolithiasis with the deposition of urates is characteristic.
Waldenstrom macroglobulinemia is characterized by a decrease in immunity and the addition of an opportunistic infection, complicating the course and diagnosis of the underlying disease.
As the process progresses, inhibition of almost all sprouts of hematopoiesis and the development of pancytopenia are noted. The development of amyloidosis and damage to this pathological protein of the vessels of the liver and spleen is characteristic, which further worsens their already impaired 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 characterizing the disease will be an increase in ESR and the formation of specific "coin columns" - adhering red blood cells. The leukocyte formula usually indicates an increased number of lymphocytes and the appearance of immature forms of leukocytes in the analysis.
To confirm the diagnosis, immunoelectrophoresis is indicated. After this study, it is possible to identify an increased amount of class M immunoglobulins in the blood.
Monoclonal immunoglobulins are detected in the blood after the addition of labeled sera.
Additional, but not specific symptoms are an increase in the liver and spleen, the detection of amyloid in the renal capillaries during biopsy, as well as a decrease in the number of plasma coagulation factors (in particular, 8 factors).
Treatment
In the early stages of the disease, if there is no significant damage to the internal organs, specific treatment is not indicated. Often, such patients are under observation at a local hematologist.
When the first symptoms appear and confirmation that this disease is Waldenstrom macroglobulinemia, specific therapy with cytostatics begins. For treatment use drugs such as Chlorobutin, Cyclophosphamide. They have a cytostatic effect and inhibit the activity of the malignant clone of B-lymphocytes.
First of all, “Chlorbutin” is prescribed, 6 mg daily orally for 3-4 weeks. Increasing the dose is fraught with the development of bone marrow aplasia. After passing the main course of treatment, maintenance doses of the drug (2-4 mg) are prescribed every other day.
To improve the rheological parameters of blood, plasmapheresis is used. A course of plasmapheresis treatment is carried out during the use of cytostatics. During the procedure, the removal of up to 2 L of plasma is indicated with its replacement with a donor inactivated one.
Prevention
Since the disease is hereditary, it is difficult to influence its development in any way, because it is already in the genes. The only way to avoid its development is the timely diagnosis of the disease and a well-designed treatment plan.
You can indirectly influence the disease if you follow a healthy lifestyle, stop smoking and drinking alcohol, and limit smoked and spicy foods.
Since the disease is genetic, 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.
To preventive measures include the familiarization of patients with the characteristics of the disease and their agitation to compliance with measures of a healthy lifestyle.
Disease prognosis
What awaits patients who have developed Waldenstrom macroglobulinemia? The prognosis of the disease depends on the severity of the disease, the developed complications and the timeliness of the treatment started.
If the disease is at an early stage of development, then in most cases it is possible to prevent its progress. Such patients, even if they have no chance of a complete cure, the use of maintenance doses of cytostatics can still significantly increase their life expectancy.
Things are much worse for those who have complicated Waldenstrom's macroglobulinemia. Symptoms in which the prognosis is extremely disappointing - amyloid damage to the liver and kidneys, frequent bleeding and the development of paraproteinemic coma. If you do not provide timely assistance to such patients, a high probability of death.
The average life expectancy in patients with this disease is about 4-5 years. With a correctly drawn up treatment plan, it is possible to increase it to 9-12 years.
Danger of disease
Given the fact that the disease develops rather rarely, it is extremely difficult to suspect its development to a person who has never met with him. Considering that first of all, local therapists are in contact with the patient, it is on their shoulders that they are responsible for ensuring that Waldenstrom's macroglobulinemia is suspected and diagnosed in a timely manner. What kind of disease this is, far from all doctors will remember, however, any therapist should think about the fact that the patient has this particular pathology, given all its clinical manifestations.
In the future, hematologists will conduct this patient, however, the primary diagnosis lies purely on the shoulders of clinics.
Untimely determination of this disease leads to grave consequences when chemotherapy will no longer be effective. That is why you should know everything about this disease so as not to miss it and not bring it to a neglected state.