Hereditary spherocytosis is a hemolytic anemia that occurs as a result of damage to the cell membrane of red blood cells. At the same time, the permeability of the membrane for sodium ions becomes excessive, and therefore the erythrocytes become spherical, they become brittle and easily damaged.
This disease is widespread and occurs in most ethnic groups, but northern Europeans suffer.
Feature of the disease
Hereditary microspherocytosis (Minkowski-Choffard disease) is a violation of the surface or membrane of erythrocytes. As a result of the lesion, they are formed in the form of a sphere instead of flattened discs, which are slightly bent inward. Spherical cells are much less flexible than regular red blood cells.
In a he althy person, the spleen responds with an immune response to invading pathogens. However, with hereditaryspherocytosis greatly hinders the passage of red blood cells through the tissues of the spleen.
The irregular shape of red blood cells leads to the fact that this organ destroys them much faster. This pathological process is called hemolytic anemia. Normal blood cells live up to 120 days, and affected by spherocytosis - 10-30 days.
Main types and forms
In the absence of external anomalies, the initial signs of microspherocytosis appear mainly in childhood and adolescence. For some time, the only manifestation may be prolonged jaundice, growing in waves.
Sometimes a child's disease is determined after the parents are examined. Relapses occur with an increase in the intensity of the color of the skin and mucous membranes. In addition, symptoms of anemia may appear. There are no characteristic signs outside the period of exacerbation.
In infants, the liver cells are not yet well matured, which is why the bilirubin index reaches quite high values. In addition, they have a much more pronounced toxic brain damage. At an older age, the course of the disease may coincide with the manifestation of cholelithiasis. Possible clinical course in such forms as:
- light;
- medium;
- heavy.
Anemic syndrome largely depends on the level of hemoglobin. The patient's well-being is largely determined by the speed of its decline, the severity of the course, as well as damage to other organs.
Causes of occurrence
Hereditary spherocytosisis inherited in an autosomal dominant manner. If one of the parents has signs of hemolytic anemia, then a similar disease is also observed in the child. Other cases of the disease are also possible, which are new mutations.
It has been established that Minkowski-Choffard disease occurs not only due to a genetic predisposition. There are also other factors that increase gene mutations. These include such as:
- pregnancy;
- intoxication of the body;
- tanning and prolonged exposure to the sun;
- overheating and hypothermia;
- taking certain medications;
- infectious diseases;
- surgeries and injuries;
- stress conditions.
Knowing all these provoking factors, it will be possible to recognize the Minkowski-Choffard disease in a timely manner and treat it. This will prevent the development of possible complications.
Feature of the development of the disease
The pathogenesis of the development of hereditary spherocytosis is associated with the presence of a genetic abnormality of proteins and erythrocytes. All patients have a lack of spectrins in the erythrocyte membrane. Some have a change in their functional qualities. It has been established that the lack of spectrin is directly related to the severity of the disease.
Genetic damage to the structure of erythrocytes leads to an increase in their permeability for the accumulation of fluid and sodium ions. This causes an increased metabolicload on cells and spherocyte formation. When moving through the spleen, these cells begin to experience some mechanical difficulty, being exposed to all kinds of adverse effects.
It is possible to detect hereditary spherocytosis in children and adults during electron microscopic studies. This makes it possible to determine the existing ultrastructural changes in erythrocytes. The erythrocytes die in the spleen. If their structure is damaged, their life span is 2 weeks.
Damage of erythrocytes during the course of hereditary spherocytosis (Minkowski-Choffard disease) is caused by a genetic factor. At the same time, existing defects are significantly aggravated, a hemolytic crisis begins to develop. Such crises can be triggered by various kinds of infections, certain chemicals and mental disorders.
Clinical manifestations
Hereditary spherocytosis in children and adults can occur in different forms and stages. The symptomatology of the disease largely depends on this. Most people suffer from pathology of moderate severity. With a mild course, many may not even be aware of the presence of pathology. Hereditary spherocytosis is characterized by the presence of such signs as:
- anemia;
- gallstones;
- jaundice.
Each of these states have their specific manifestations. Spherocytosis provokes a more rapid destruction of red blood cells than he althy cells, which can lead to the development of anemia. In this case, the skin becomes much paler thanusually. Among other common signs of anemia during the course of hereditary spherocytosis, the following should be highlighted:
- shortness of breath;
- fatigue;
- dizziness;
- irritability;
- palpitations;
- headache;
- jaundice of the skin.
Hemolytic anemia in hereditary spherocytosis can have quite serious consequences, so it is necessary to consult a doctor in a timely manner in order to be able to prevent the development of complications.
When blood cells are destroyed, pyridine bilirubin is rapidly released. If red blood cells break down very quickly, then this leads to the fact that a lot of bilirubin is formed in the bloodstream. Its excess can provoke the development of jaundice. It leads to the fact that the skin becomes yellowish or even bronze. The whites of the eyes may also turn yellow.
An excess of bilirubin also provokes the formation of gallstones, which can accumulate in the gallbladder if too much bilirubin enters the bile. In this case, a person may not have any symptoms at all until the stones provoke a blockage of the bile ducts. In this case, the following symptoms may be observed:
- severe pain in the abdomen;
- nausea;
- loss of appetite;
- fever.
Minkowski-Choffard disease in infants may present with slightly different symptoms. The most common sign isjaundice, not anemia. This is especially acute in the first week of a newborn's life. Be sure to contact your pediatrician if you have signs such as:
- yellowing of the skin and eyes;
- irritability and restlessness;
- baby sleeps too much;
- feeding difficulties observed;
- have to change more than 6 diapers a day.
In children with a similar pathology, the onset of puberty may be delayed. In adolescence, the disease manifests itself in the form of an enlarged spleen, jaundice and anemia. Hereditary spherocytosis can be noticeable from the very birth of the baby, but the most pronounced symptoms are observed at preschool and school age. Early manifestations of the disease predetermine a much more complex course. Boys often suffer from this pathology.
In a child with early manifestations of spherocytosis, deformation of the skeleton and especially the skull is possible. Patients show pathological changes in the heart and blood vessels, which is due to the course of anemia.
An increase in the size of the spleen is also characteristic. The organ becomes tight and painful. During an exacerbation, the color of the feces is quite saturated.
Carrying out diagnostic measures
Diagnosis of Minkowski-Choffard disease implies a blood test. Often it turns out to determine the presence of signs of the carriage of the disease on the part of the parents. In the absence of pronounced clinical manifestations, an insignificant part of microspherocytes and their transitional forms can be detected. However, in some cases, even a thorough examination does not reveal links with parents.
When conducting a blood test, you can detect a violation of the ratio of leukocytes and erythrocytes. If normally there should be 3 times more leukocytes, then an equal number of white and red blood cells will be a sign of the course of the pathological process. The content of platelets in the blood often does not change.
The level of indirect bilirubin during a biochemical study is directly proportional to the severity of hemolysis. In the remission stage, this figure is approximately 55-75 mmol / l, but during a crisis it increases sharply.
If the disease proceeds in the mildest form, then the bilirubin indicator remains within the normal range. This indicates the normal functioning of the liver cells. Blockage of the bile ducts by stones also increases the level of bilirubin, since it immediately enters the bloodstream instead of the gallbladder.
Urine analysis generally shows equal amounts of urobilin and bilirubin. Normally, urobilin should be absent. When conducting a study of feces, an increase in stercobilin is detected, but when obstructive jaundice occurs, it may not be. When examining a patient, the doctor pays attention to signs such as:
- combination of strong pallor of the skin with a slight icteric tint;
- rapid heart rate;
- low blood pressure;
- enlarged liver and spleen.
On the ECG, the presence of tachycardia is noted, intoxication is accompanied by a sign of myocardial dystrophy, and in some cases, arrhythmia occurs. Ultrasound examination helps to determine the size of the enlarged spleen and liver, the presence of gallstones.
The direct Coombs test will help determine the presence of Minkowski-Choffard disease, which allows you to detect autoantibodies fixed on erythrocytes in hemolytic autoimmune anemia.
Differential diagnosis is important to make a correct diagnosis. X-ray examination is aimed at determining the presence of bone deformities. Difficulties in diagnosis arise when combined with acute viral hepatitis.
Feature of treatment
It is not possible to eliminate the disease in a conservative way. Some of the symptoms may improve with corticosteroid therapy. Duodenal sounding is also recommended to prevent the accumulation of bile stones.
Minkowski-Choffard disease can be treated by removing the spleen, as this organ destroys red blood cells. This allows you to achieve a stable normalization of the course of the pathology, as well as a decrease in hyperbilirubinemia. Children are mostly operated after the age of 10.
In Minkowski-Choffard disease, clinical recommendations include a special diet. To do this, it is recommended to introduce beans, cereals, soybeans, chopped raw vegetables, cottage cheese, mushrooms, and beef liver into your usual diet. Alsoincreased intake of folic acid is required.
Feature of treatment during pregnancy
Clinical guidelines for Minkowski-Choffard disease during pregnancy include the usual measures to preserve the fetus and ensure its normal development.
For he alth reasons, a blood transfusion, removal of the spleen, caesarean section or premature induction of labor is required. After delivery, the issue of splenectomy is decided on a strictly individual basis.
Surgery
Removing the spleen will help cure anemia. The pathological form of blood cells will remain, but they will no longer be destroyed in the spleen. Bone marrow transplantation allows you to partially replace it in a patient with an impaired cell structure with a he althy donor.
Splenectomy is the removal of the spleen. This is the main method of treatment of hereditary microspherocytosis. After the operation, the patient is almost completely cured, despite the fact that the erythrocytes retain their spherical shape. In addition, this will extend the life of red blood cells, since the main organ in which they die will be removed.
Removal of the spleen is performed in conditions such as:
- frequent hemolytic crises;
- significant decrease in hemoglobin;
- Spleen infarction.
However, it is worth noting that this operation is not performed in case of mildthe course of the disease. Cholecystectomy involves the removal of the gallbladder in the presence of stones in it. Some patients undergo simultaneous removal of the spleen and gallbladder. The main indication for splenectomy and cholecystectomy is the presence of gallstones with severe pain.
When hereditary spherocytosis occurs, clinical recommendations relate to the specifics of preparation for the operation, as well as the correct rehabilitation process. A few weeks before splenectomy, the introduction of a hemophilic, meningococcal and pneumococcal vaccine is required. After surgery, lifelong penicillin is recommended to prevent the development of dangerous infections.
Surgery is not recommended for children under 5 years of age. Light therapy is used to treat severe jaundice in infants. In hereditary spherocytosis in children, the clinical guidelines are for prophylaxis to prevent the development of life-threatening infections.
An important step in treatment is to replenish the number of red blood cells. For this, a transfusion of erythrocyte mass or washed erythrocytes is performed. Washing of erythrocytes can reduce the frequency and severity of negative reactions to blood transfusions. This procedure is carried out according to vital indications, that is, if there is a threat to the life of the patient. A threat to the life of a person with the presence of hereditary microspherocytosis is an anemic coma and severe anemia.
Anemic coma is characterized bya sharp loss of consciousness with a complete lack of response to external stimuli, as a result of insufficient oxygen supply to the brain. This occurs as a result of a rapid and significant decrease in the level of red blood cells.
After stabilization of hemoglobin levels, as well as the composition of human blood, sanitary treatment is recommended. This is best done at resorts with mineral springs, as this will prevent the subsequent formation of stones in the bile ducts.
Possible Complications
Complications of Minkowski-Choffard disease can be directly related to the course of pathology or splenectomy. The most severe consequences are anemic coma, as well as damage to some internal organs. This is mainly characteristic of older people with comorbidities.
After removal of the affected spleen, various complications may also occur, in particular such as:
- thrombosis;
- bleeding from damaged splenic arteries;
- adhesive processes;
- immunodeficiency condition.
When the pathology occurs, the accumulation of platelets occurs, so there is a possibility of thrombosis after the operation. Adhesive disease is provoked by intervention in the peritoneum. As a result, fibrous bands and scarring of intestinal loops develop.
Prevention and prognosis
Prognosis for hereditary spherocytosis is generally favorable. However, in the most difficult and dangerous casesthe course of a hemolytic crisis, with incorrect or untimely therapy, there may even be a fatal outcome. Since the disease is inherited from parents, it must be taken into account that there is a high degree of risk of having an already sick child. When hereditary spherocytosis occurs in only one of the parents, the probability of developing pathology is 50%. In this case, the child is under permanent dispensary registration.
It is currently impossible to prevent the occurrence of a hereditary disease in children whose parents suffer from microspherocytosis. The probability of having a child with the disease in this case is very high. Since parents must take into account the likelihood of the manifestation of the disease not immediately, but in a longer period, it is imperative to protect the baby from provoking factors.
However, work is underway to identify the pathological gene that provokes the occurrence of this disease. It may be possible to deal with this problem soon.
Adult patients are also advised by doctors to avoid significant hypothermia, stressful situations, sun tanning, and poisoning.
The development and course of the disease is based on a genetic defect in red blood cells. This leads to the penetration of a large amount of water and sodium ions into the red blood cells. It occurs with a frequency of approximately 1 case per 4500 people.
