Hereditary blood diseases are quite rare, but they pose a great danger to humans. One such disease is Vandelström macroglobulinemia.
What characterizes it?
This disease in modern medicine is understood as a 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 the bone marrow function is impaired (often during the development of a tumor process), a change occurs in the amino acid composition and gene sequence, which leads to the synthesis of macroglobulin, i.e. Waldenström's macroglobulinemia develops.
The disease is quite rare, about 3 cases per million people. It develops mainly in men over the age of 55 years. Until the age of 40, this pathology practically does not occur.
How does the disease manifest itself at the cellular and tissue levels? What kindstructures are affected first and what happens as a result?
Pathogenesis of 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 into the bone marrow, liver, spleen, where they begin to actively multiply and secrete pathogenic macroglobulin. Thus, Waldenström's macroglobulinemia develops.
The accumulation of pathogenic protein in the blood leads to the development of its viscosity. As a result, the speed of blood flow through the vessels decreases, which leads to its stagnation. In addition, plasma coagulation factors are inhibited (due to their envelopment and inactivation by 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 clusters of "plasmatized" lymphocytes, a large number of mature B-lymphocytes and secreting inflammatory mediators of mast cells. All these cells indicate that Waldenström's macroglobulinemia is taking place.
Symptoms
How can one clinically suspect the development of this disease?
First of all, patients will complain of non-specific symptoms - general weakness, subfebrile fever for a long time, sweating, weight loss for no apparent reason.
Main symptom based onwhich we can suspect that Vandelstrom's macroglobulinemia has developed, is increased bleeding from the nose and gum mucosa. Subcutaneous bruising and bruising are much less common.
Hepatosplenomegaly and lymphadenopathy (swollen lymph nodes) may develop over time. It is also possible to develop complications of macroglobulinemia.
If timely medical care is not provided, there is a risk of a patient developing a coma and even death (however, patients usually die not so much from the fact that they have developed Waldenström's macroglobulinemia). The causes of their death are the result of complications that have developed.
Complications of the disease
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 urate deposition 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, inhibition of almost all hematopoietic germs and the development of pancytopenia are noted. Characterized by the development of amyloidosis and damage to datapathological protein of the vessels of the liver and spleen, which further worsens their already impaired function.
Diagnosis
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" - stuck together erythrocytes. The leukocyte formula usually indicates an increased number of lymphocytes and the appearance of immature forms of leukocytes in the analysis.
Immunoelectrophoresis is indicated to confirm the diagnosis. After conducting this study, it is possible to detect an increased amount of M class immunoglobulins in the blood.
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 on biopsy, and a decrease in plasma clotting factors (particularly factor 8).
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 dispensary observation at the district hematologist.
When the first symptoms appear and it is confirmed that this disease is Waldenström's macroglobulinemia, specific cytostatic therapy is started. For treatment, such drugs are used,like Chlorbutin, Cyclophosphamide. They have a cytostatic effect and inhibit the activity of a 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 completing the main course of treatment, maintenance doses of the drug (2-4 mg) are prescribed every other day.
Plasmapheresis is used to improve the rheological parameters of blood. 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 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 affect the disease if you follow a he althy lifestyle, quit smoking and alcohol, 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 changing the human genome. Timely treatment of such diseases will help prevent changes in genes and prevent the developmentmacroglobulinemia.
Preventive measures include familiarizing patients with the characteristics of the disease and encouraging them to follow a he althy lifestyle.
Disease prognosis
What awaits patients who have developed Waldenström's 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. Although such patients do not have a chance for a complete cure, the use of maintenance doses of cytostatics can still significantly increase their life expectancy.
The situation is much worse for those who have complicated Waldenström's macroglobulinemia. Symptoms, the prognosis for which is extremely disappointing - amyloid damage to the liver and kidneys, frequent bleeding and the development of paraproteinemic coma. If such patients are not treated in a timely manner, the probability of death is high.
The average life expectancy for patients with this disease is about 4-5 years. With a properly drawn up treatment plan, it is possible to increase it up 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 practically never met him. Considering that, first of all, district therapists are in contact with the patient, it is on their shoulders that the responsibility is placed for ensuring thatWaldenström's macroglobulinemia was diagnosed. Not all doctors will remember what kind of disease it is, however, any therapist should think that the patient has this particular pathology, taking into account all its clinical manifestations.
In the future, this patient will be managed by hematologists, however, the primary diagnosis lies solely on the shoulders of polyclinic doctors.
Untimely definition of this disease leads to serious consequences when chemotherapy is no longer 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.
