Symptoms of Minkowski-Schoffar disease

Hereditary microspherocytosis clinically appears in 50% of cases already in the neonatal period; in the vast majority of patients, the disease begins before adolescence. It is established that the early appearance of the symptoms of the disease predetermines a more severe course.

The central place in the clinical picture is occupied by three leading symptoms, caused by intracellular localization of hemolysis: jaundice, pale skin and mucous membranes, splenomegaly.

The intensity of jaundice can be different and is determined by the level of indirect bilirubin. In a number of patients, skin ichthyosis and sclera may be the only symptom that they refer to a doctor. It is to these patients that the well-known expression of Schoffar relates: "they are more jaundiced than sick". A distinctive feature of jaundice is its aholorichnost, that is, the absence of bile pigments in the urine, but there is urobilinuria.

Pale skin and mucous due to the presence of anemia and its severity depends on the degree of anemia, outside the hemolytic crisis, pallor is less pronounced, during the crisis - sharply.

The degree of severity of splenomegaly is variable, at the height of the crisis the spleen is significantly enlarged, with palpation dense, smooth, painful. There is an enlarged liver. In the compensation period, splenomegaly persists, but is less pronounced.

Children aged 4-5 years often have gallstones, but cholelithiasis is diagnosed most often in adolescents. Gallstone disease occurs in approximately 50% of patients who have not undergone splenectomy.

Patients often show a tower skull, a Gothic sky, a broad bridge of nose, anomalies of the teeth, syndactyly, polydactyly, iris of the iris. With a severe, progressive course of the disease, growth retardation, mental underdevelopment, hypogenitalism are possible.

Depending on the severity of the three forms of the disease. With a mild form of general condition is satisfactory, hemolysis and splenomegaly expressed slightly. With a moderate form, mild or moderate anemia with uncompensated hemolysis and episodes of jaundice, expressed by splenomegaly, is noted. In severe form, pronounced anemia is observed, in which repeated blood transfusion is necessary, mayor regeneration crises may occur, and growth retardation is observed.

Classification of hereditary spherocytosis and indications for splenectomy

Symptoms	Norm	Classification of spherocytosis
		Easy	Moderate Gravity	Heavy
Hemoglobin (g / l)	110-160	110-150	80-120	60-80
Number of reticulocytes (%)	<3	3.1-6	> 6	> 10
Reticulocyte index	<1.8	1.8-3	> 3
The content of spectrin in the erythrocyte (in% of the norm) 2	100	80-100	50-80	40-60
Osmotic stability	Norm	Normal or slightly reduced	Sharply reduced	Sharply reduced
Auto-hemolysis without glucose (%) in the presence of glucose	> 60 <10	> 60> 10	0-80> 10	50> 10
Splenectomy		Usually there is no need	It is necessary to perform before the onset of puberty	It is shown, it is better to perform after 3 years
Clinical symptoms		None	Pallor, igeneratornyj a crisis, splenomegalia, ZHB	Pallor, igeneratornyj a crisis, splenomegalia, ZHB

The regenerative crisis is a serious complication of the hemolytic crisis, during which the symptoms of bone marrow hypoplasia with selective lesion of the erythroid sprout appear. It is believed that the development of an aregeneric crisis is usually due to the addition of a viral infection caused by parvovirus B19. The regenerative conditions of the bone marrow last from several days to 2 weeks, cause severe anemia and can be the main cause of death of the patient. Clinically, there is a marked paleness of the skin and mucous membranes with complete absence of skin ichthyresis and sclera, an increase in the spleen is absent or not very pronounced, and the severity of splenomegaly of severity of anemic crisis is not observed. There is no reticulocytosis, up to complete disappearance of reticulocytes from peripheral blood. A number of children have thrombocytopenia. Aregenerator crises are observed mainly in children aged 3-11 years and, despite their severity, are reversible.

The course of anemia Minkowski-Shoffar wavy, after the development of the crisis, clinical and laboratory indicators improve and remission occurs, lasting from several months to several years.

Complications

Hemolytic crisis - a sharp increase in hemolysis, often against the background of infection.

Erythroblastopenic (aplastic) crisis - the arrest of erythroid cell maturation - is often associated with megaloblastic changes. It is usually provoked by parvovirus infection B19, as parvovirus B19 affects developing normoblasts, causing a transient cessation of their production.

Deficiency of folates due to accelerated turnover of erythrocytes can lead to the development of pronounced megaloblastic anemia.

Gallstone disease occurs in about half of untreated patients, the likelihood of its development increases with age.

Secondary iron overload is rare.

[1]