Hemolytic anemia of Minkowski-Schofar: diagnosis and treatment

With anemia in the blood, the level of hemoglobin is sharply reduced. With this disease throughout life, many people have to face. Moreover, it does not bypass even small children. Most types of illness are caused by poor nutrition, vitamin deficiency or some medications. After eliminating the provoking factor, all the symptoms stop. Among all the variety of pathological processes one complex and very dangerous one stands out. This is the hemolytic anemia of Minkowski-Schoffar. It's about her that will be discussed in today's article.

What is anemia?

By anemia, it is customary to understand the state of the organism, characterized by a sharp decrease in the numbers of erythrocytes and hemoglobin. Some varieties of the disease lead to a change in the shape of red blood cells. Over time, they lose their primary functions.

Anemia often accompanies various diseases, but it is never primary. That's why you should not leave the disorder without attention. It is necessary to find its cause as soon as possible and try to eliminate it.

Features of hemolytic anemia

The concept of "hemolytic anemia" includes an extensive group of diseases. All of them are characterized by a common pathogenesis. The increased destruction of erythrocytes leads to an increase in the products of their decay and to an increase in erythropoiesis. The cycle of formation of red bodies is disrupted. The processes of their destruction gradually begin to prevail over the mechanisms of appearance and maturing.

All hemolytic anemia is conditionally divided into two groups: hereditary and acquired. In this article, we will dwell in more detail on the first version. To be more precise, we will consider what is the hereditary anemia of Minkowski-Schoffar.

In medical reference books, you can find several names describing the pathological process. These include microspherocytic anemia, hereditary spherocytosis, and Minkowski-Schoffar disease. Most often, the last name is used for the surnames of pioneer scientists.

This disease is considered very common (1 case for every 5 thousand people). Diagnosed mainly by residents of Northern Europe. The first signs become noticeable in children at an early age. If you do not start treating the disease in a timely manner, its course will negatively affect the functioning of the entire body.

Causes and mechanism of disease development

Minkowski-Schoffar anemia is accompanied by a breakdown in the structure and functions of the cell membrane of erythrocytes. As a result of the ongoing processes, they change their shape to a round one, become brittle. Appear the first signs of hemolysis - the destruction of red blood cells with the simultaneous release of hemoglobin.

In a healthy person, the erythrocytes resemble a biconcave disk in their shape, so that they can move freely through the vessels. With anemia in the membrane of these elements, protein synthesis is disrupted. This leads to the penetration of fluid into the cells. For this reason, they change their form. Passing through the vessels, the erythrocytes strongly deform, and after a while they begin to break down. Against the background of the processes occurring, the level of red blood cells drops sharply, hemolytic anemia develops.

If one of the parents has previously been diagnosed with this ailment, he will necessarily inherit the child. Very seldom sick children are born with perfectly healthy mothers and dads. In this case, anemia develops against a background of changes in DNA. The primary gene mutation occurs even during intrauterine development of the fetus. An obligatory condition for the development of the disease is the effect on the mother's body of the following factors:

• Radiation, X-ray radiation;
• Intoxication with salts of heavy metals, narcotic substances, nicotine;
• Virus attack.

Under the influence of the above factors, not only Minkowski-Schoffar anemia may occur, but also more serious pathologies. Therefore, during pregnancy, a woman should try to protect her body.

The first symptoms

The clinical picture is largely determined by the degree of severity of the pathological process and the number of altered red blood cells. Its first symptoms can be observed in preschool and early school children. The course of anemia of this species is usually wavy. Attacks of hemolytic crisis, when there is a simultaneous destruction of a large number of erythrocytes, are replaced by periods of calm. However, the symptoms may be slightly different.

For example, the interictal period of the disease manifests itself as signs of anemia. Among them, one can distinguish the pallor of the skin, mucous membranes and sclera of the eyes. In hemolytic crisis, the clinical picture is modified and is accompanied by the following symptoms:

1. A fever of 38 degrees, a headache, a general malaise.
2. Development of jaundice.
3. Pain in the abdomen, characterized by a spastic character.
4. Discomfort in the area of the liver due to its increase.
5. Inflammation of the spleen.

Hereditary hemolytic anemia of Minkowski-Schoffar is also found in adults. The most frequent reason for going to the doctor in this case is the yellowness of the skin. However, in most cases this ailment is asymptomatic. Patients learn about its existence by chance and usually during a preventive examination.

Medical Examination

The diagnosis of Minkowski-Schoffar anemia is quite simple. If you suspect a disease and the appearance of its initial signs, you should seek help from a doctor. Pathologies of the hematopoietic system are in the competence of the hematologist. After examining the patient's complaints and his family history, a specialist should examine the skin and sclera, and perform a palpation of the abdomen. Mandatory ultrasound of the liver and spleen, as one of the symptoms of an ailment is an increase in the size of these organs.

At the same time, the hematologist gives direction to a number of laboratory tests. The hemolytic anemia of Minkowski-Schoffar is confirmed by the following changes:

1. Urine: hemoglobinuria, increased protein and urobilin.
2. Biochemistry of blood: reduction of cholesterol, growth of lactate dehydrogenase, increase in indirect bilirubin.
3. Study of erythrocytes: pronounced reticulocytosis, reduction of cell size, reduction of their osmotic resistance.
4. General analysis of blood: acceleration of ESR, a slight decrease in platelets and white blood cells, a reduction in the color index.

Final confirmation of the preliminary conclusion is facilitated by electrophoresis of the erythrocyte membrane proteins in combination with their quantitative determination.

Differential diagnostics

Hemolytic anemia Minkowski-Schoffar in children sometimes causes difficulties during diagnosis. This disease has similar symptoms to other autoimmune pathologies. Therefore, doctors should know some distinctive and characteristic features for this type of anemia.

First of all, we are talking about a hereditary predisposition. Only in exceptional cases, both parents are absolutely healthy. On the other hand, the patient's child has obvious changes in the bones of the skull. In doubtful cases, the Coombs test is additionally prescribed . If the analysis is negative, the patient is confirmed with Minkowski-Schoffar anemia. Diagnosis is considered complete.

Conservative methods of treatment

Therapy of anemia is selected taking into account its severity. In the period of calm, as a rule, intervention is not required. During the next attack the patient immediately hospitalized.

Conservative treatment of anemia Minkowski-Schoffar includes the following measures of exposure:

1. Replacement therapy with erythrocyte mass, if the level of hemoglobin in the blood drops to 70 g / l.
2. Treatment with albumin is prescribed at high bilirubin indices.
3. Infectious therapy is used to detoxify the body.
4. In the absence of a pronounced hemolytic crisis, the use of cholagogue preparations is indicated.

The duration of such therapy, specific drugs and their dosage - all these issues are decided by the doctor individually.

Operative intervention

If the microspherocytic hemolytic anemia of Minkowski-Schofar proceeds in severe form, conservative treatment does not cope with the stated tasks, the patient is recommended an operation to remove the spleen. This approach does not completely cure the disease. On the other hand, after intervention, the number of destroyed erythrocytes is markedly reduced, and their life cycle is prolonged.

Hemolytic crises after the operation are not repeated, but it has a number of contraindications. For example, removal of the spleen is not recommended for children under 5 due to the high mortality rate in the postoperative period. Negative side of the procedure is considered to decrease the body's resistance to viral and fungal infections.

An alternative option for removal of the spleen is endovascular occlusion. This is another method of treatment, which is often used for the diagnosis of "microspherocytic anemia Minkowski-Schoffar." During the procedure, the doctor enters into the body a medicine that provokes a spasm and leads to a spleen infarction. Some of it after that retains a full blood supply and does not lose the ability to resist infections.

Possible complications

Hemolytic anemia Minkowski-Schoffar in preschool children often leads to a lag in mental and physical development. Especially if the parents did not seek medical help for a long time or ignored the doctor's recommendations.

In adult patients, the most common complication is cholelithiasis against a background of bilirubin metabolism. The whole point is that the hemolytic crisis is often perceived as the beginning of the development of mechanical jaundice, so correct treatment is postponed. In the presence of gallstones, cholecystectomy with splenectomy is recommended.

Prognosis for recovery

With a mild course of the disease and a timely surgery to remove the spleen, the prognosis is favorable. Remission usually occurs immediately after hemolytic crisis. Its duration may vary, but in most cases it is about two years.

Methods of prevention

The Minkowski-Schoffar anemia is hereditary. Therefore, it is not possible to prevent the onset of the disease. In order to prevent severe forms of ailment, it is recommended that patients with anemia are periodically examined by a hematologist.

When planning a pregnancy, it should be understood that the probability of developing a disease in a future child is 50%. Therefore, the newborn is also shown constant observation by the doctor for the detection of pathology at an early stage.