Minkowski-Shoffar hemolytic anemia: diagnosis and treatment

With anemia in the blood, the hemoglobin level decreases sharply. Many people have to deal with this disease throughout their lives. Moreover, it does not bypass even small children. Most varieties of the disease are caused by poor nutrition, vitamin deficiency, or certain medications. After eliminating the provoking factor, all symptoms stop. Among the whole variety of pathological processes, one complex and very dangerous one stands out. This is Minkowski-Shoffar hemolytic anemia. It is about her that will be discussed in today's article.

What is anemia?

Under anemia, it is customary to understand the state of the body, characterized by a sharp decrease in the indicators of red blood cells 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 is why you should not leave the disorder unattended. 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. Enhanced destruction of red blood cells leads to an increase in their decay products and to an increase in erythropoiesis. The cycle of the formation of red bodies is broken. The processes of their destruction gradually begin to prevail over the mechanisms of appearance and maturation.

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

In medical guides you can find several names that describe the pathological process. This is microspherocytic anemia, and hereditary spherocytosis, and Minkowski- Shoffar disease. Most often, the last name is used according to the names of pioneering scientists.

This disease is considered very common (1 case for every 5 thousand people). It is diagnosed mainly in residents of Northern Europe. The first signs become noticeable in children at an early age. If you do not start treatment of the disease in a timely manner, its course will adversely affect the functioning of the whole organism.

Causes and mechanism of the development of the disease

Minkowski-Shoffar anemia is accompanied by a violation of the structure and functions of the red blood cell membrane. As a result of ongoing processes, they change their shape to round, become fragile. The first signs of hemolysis appear - the destruction of red blood cells with the simultaneous release of hemoglobin.

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

If one of the parents has previously been diagnosed with this ailment, he will certainly pass on to the child. It is extremely rare for sick children to be born to perfectly healthy moms and dads. In this case, anemia develops against a background of changes in the DNA. The primary gene mutation occurs even during fetal development. A prerequisite for the development of the disease is the impact 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 these factors, not only Minkowski-Shoffar anemia can occur, but also more serious pathologies. Therefore, during pregnancy, a woman should try to protect her body.

First symptoms

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

For example, the interictal period of the disease is manifested by signs of anemia. Among them, one can distinguish the pallor of the skin, mucous membranes and sclera of the eyes. With a hemolytic crisis, the clinical picture changes and is accompanied by the following symptoms:

1. Fever up to 38 degrees, headache, general malaise.
2. The development of jaundice.
3. Abdominal pain characterized by a spastic nature.
4. Discomfort in the liver due to its increase.
5. Inflammation of the spleen.

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

Medical examination

Diagnosis of Minkowski-Shoffar 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 the responsibility of a hematologist. After studying the patient's complaints and his family history, the specialist should examine the skin and sclera, and palpate the abdomen. Ultrasound of the liver and spleen is mandatory, since one of the symptoms of the disease is an increase in the size of these organs.

At the same time, the hematologist gives direction to a number of laboratory tests. Hemolytic anemia of Minkowski-Shoffar is confirmed in the presence of the following changes:

1. Urine: hemoglobinuria, increased protein and urobilin.
2. Blood biochemistry: decrease in cholesterol, growth of lactate dehydrogenase, increase in indirect bilirubin.
3. The study of red blood cells: pronounced reticulocytosis, a reduction in cell size, a decrease in their osmotic resistance.
4. Complete blood count: accelerated ESR, a slight decrease in platelets and white blood cells, a decrease in color.

Electrophoresis of erythrocyte membrane proteins in combination with their quantitative determination helps to confirm the preliminary conclusion.

Differential diagnosis

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

First of all, it is a hereditary predisposition. Only in exceptional cases will both parents be completely healthy. On the other hand, in a sick child there are obvious changes in the bones of the skull. In doubtful cases, an additional Coombs test is prescribed . If the analysis is negative, the patient confirms Minkowski-Shoffar anemia. Diagnostics on this is considered complete.

Conservative treatments

Anemia therapy is selected according to its severity. During a lull period, as a rule, intervention is not required. During the next attack, the patient is immediately hospitalized.

The conservative treatment of Minkowski-Shoffar anemia includes the following exposure measures:

1. Red blood cell replacement therapy if the hemoglobin level in the blood drops to around 70 g / l.
2. Albumin treatment is indicated for high bilirubin levels.
3. Infusion therapy is used to detoxify the body.
4. In the absence of a pronounced hemolytic crisis, choleretic drugs are indicated.

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

Surgical intervention

If Minkowski-Shoffar microspherocytic hemolytic anemia occurs in a severe form, conservative treatment does not cope with the stated tasks, the operation is recommended for the patient to remove the spleen. This approach does not completely cure the disease. On the other hand, after the intervention, the number of destroyed red blood cells is markedly reduced, and their life cycle is lengthened.

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 years of age because of the high mortality rate in the postoperative period. The negative side of the procedure is the decrease in the body's resistance to viral and fungal infections.

An alternative option for removing the spleen is considered endovascular occlusion. This is another treatment method that is often sought after with a diagnosis of Minkowski-Shoffar microspherocytic anemia. During the procedure, the doctor introduces a medicine into the body that provokes a spasm and leads to spleen infarction. Some of it after that maintains full blood supply and does not lose its ability to resist infections.

Possible complications

Minkowski-Shoffar hemolytic anemia 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, cholelithiasis is considered the most common complication due to a violation of bilirubin metabolism. The thing is that the hemolytic crisis is often perceived as the onset of obstructive jaundice, so proper treatment is delayed. If there are stones in the gallbladder, cholecystectomy is recommended along with splenectomy.

Prognosis for recovery

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

Prevention Methods

Minkowski-Shoffar anemia is hereditary. Therefore, it is not possible to prevent the occurrence of the disease. In order to prevent severe forms of the disease, patients with a diagnosed form of anemia are advised to periodically undergo a full examination by a hematologist.

When planning pregnancy, it should be understood that the probability of developing a disease in an unborn child is 50%. Therefore, the newborn is also shown constant monitoring by a doctor to identify pathologies at an early stage.