Kazabah-Merritt syndrome is a vascular tumor, which doctors also call hemangioma. Such a neoplasm can be located on the internal organs and under the skin. The disease is always accompanied by a sharp decrease in platelet count and anemia, which is characterized by too small a volume of hemoglobin and red blood cells.
Against the background of thrombocytopenia, the blood coagulation process is disturbed, because of which sudden external and internal bleeding often appears. Most often, newborns experience anomalies.
The ICD-10 hemangioma code is P83.
Features
The disease is considered quite rare. The most common hemangioma of the kidney, but even today it is successfully treatable.
The formation of tumors and the occurrence of bleeding is primarily associated with abnormalities in the structure of the blood. Thrombocytopenia and excessive activation of fibronolysis lead to the accumulation of shaped blood particles in the neoplasm, where they are destroyed by natural factors.
Reasons for the development of pathology
According to doctors, Kazabah-Merritt syndrome is a genetic disease and is inherited, mainly by an autosomal dominant type.
In addition, there are a number of assumptions regarding the causes of this disease:
- Squeezing the child at the time of passage through the birth canal, various birth injuries. With a genetic predisposition to this disease, even minor hematomas can lead to the development of hemangiomas.
- Future mother taking medications prohibited during pregnancy.
- An unfavorable environmental situation, for example, irradiation of a future mother with radiation - these conditions directly affect DNA, provoking the formation of mutations and, therefore, various anomalies in the body's work.
These are the main causes of Kazabah-Merritt syndrome. However, it is worth saying that this disease has not yet been fully studied.
Clinical picture
The main symptom of the syndrome is the presence of hemangiomas. What are they? These are vascular tumors that occur most often immediately after birth. True, hemangiomas may already be on the baby’s body in the womb.
Gradually, vascular tumors increase in size, spreading to nearby structures. If they are localized on the internal organs, the diagnosis is significantly difficult. Undetected in time, the disease is fraught with sudden thrombocytopenia, which entails internal and external bleeding.
Diagnosis of Kazabah-Merritt syndrome
To detect this disease is not at all difficult if it affects the skin and is visually noticeable. If the anomaly covers the tissues of the internal organs, the diagnosis becomes difficult. Examination of newborns in this case is carried out by all available methods:
- Peripheral blood test. Necessarily indicated for infants with the appearance of abnormal bleeding. The test can show a strong decrease in platelet count and fibrinogen levels. In some cases, doctors recommend that parents use the prothrombin time test. Such monitoring allows you to accurately determine the rate of blood coagulation in vivo.
- Chromosomal tests. This is a genetic study aimed at identifying a pathological gene that actually leads to the development of the disease.
- Angioma biopsy. One of the most effective methods, which involves taking biological material for research. A large volume of destroyed platelets, fibrin, and other shaped blood particles can be detected in the collected fluid.
- Magnetic resonance imaging.
- Angiography.
- Isotope study.
- CT scan.
Specific features
It is worth saying that Kazabah-Merritt syndrome always appears immediately after birth or in the first weeks of a child’s life, but not later than 4-5 months. In addition, the disease is always characterized by the occurrence of hemangiomas, anemia and thrombocytopenia. If the clinical picture is incomplete, the presence of another pathology can be suspected. Only instrumental and laboratory diagnostic methods can accurately determine the diagnosis and features of the disease.
Therapy Features
The treatment of this complex disease must necessarily be comprehensive. Moreover, the sooner you start therapy, the greater success can be achieved in the process.
Doctors can recommend several optimal treatment tactics, depending on the severity of the pathology and the features of its course. Modern medicine offers several ways to treat Kazabah-Merritt syndrome:
- drug therapy;
- surgical intervention;
- radiation therapy;
- pneumatic compression.
Clinical recommendations for children with Kazabah-Merritt syndrome
If conservative treatment is chosen, then the child is assigned a standard therapeutic regimen. It includes several different groups of drugs:
- Prednisone tablets. What do they help from? It is a steroid hormone produced under normal conditions by the adrenal glands. It is actively used by doctors to maintain the normal functioning of internal organs in autoimmune pathologies. This drug is prescribed as adjuvant therapy. Pills can cause side effects in the form of bleeding, obesity, disturbances in the digestive tract, the appearance of a hump, suppression of hormonal activity. The cost of the drug ranges from 100-130 rubles.
- "Metipred" is a corticosteroid, almost similar to prednisone. The composition also contains an additional radical - methyl, which has a supportive effect. It can be prescribed as a substitute for Prednisolone because it is easier to tolerate by children and has fewer side effects. The cost is approximately 240-260 rubles.
- Prednisone is an exact analogue of Prednisone from another manufacturer. The price of the drug reaches about 120 rubles.
- "Methotrexate" is a domestic medicine that, according to its mechanism of action, corresponds to a folic acid antagonist. This drug prevents the growth and development of the tumor. Side effects include: disturbances in the digestive tract, detrimental effects on the reproductive organs, liver, kidneys, immunosuppressive effect. The cost of Methotrexate is 160-180 rubles.
- "L-asparaginase" is an effective enzymatic agent designed to combat tumors of various origins. It breaks down the amino acids needed for a tumor to grow and grow. To side effects, doctors include: hemostasis, a violation of the central nervous system, allergic reactions, ulcers in the digestive tract. The price of the drug is approximately 220 rubles.
- "Daunorubicin" is a solution in the form of a solution for intramuscular administration. Helps fight various neoplasms, preventing the process of cell division of the tumor. The development of adverse reactions is not ruled out: blood stasis, phlebitis, allergic reactions, reproductive dysfunctions, heart failure. The cost of the drug reaches about 520 rubles.
- "Cytarabine" - inhibits the activity of tumor cells and inhibits the metabolic processes in them. It is given to children in the form of tablets. The side effects of doctors include: fatigue, apathy, baldness, depression, the appearance of bronchospasm, suppression of the immune system, the appearance of spots on the skin. The cost of the drug is not more than 60 rubles.
Additional recommendations
Among other things, doctors prescribe babies interferons - special solutions that are administered to children intramuscularly or intravenously dropwise. They prevent the self-destruction of altered blood cells and strengthen the immune system of a newborn child, making it easier to feel healthy. These drugs significantly help the weakened body, which suffers from pathological processes, recover.
If the baby’s condition suddenly worsens and disseminated intravascular coagulation syndrome develops, the child is prescribed antiplatelet agents and other medications that promote blood thinning. Such drugs are selected individually for each baby.
Surgical intervention
If hormonal conservative therapy is ineffective or a hemangioma of the kidney is found that can lead to the development of DIC, a tumor is removed surgically. The same applies to cases in which neoplasms put pressure on the internal organs and interfere with the normal blood flow in them.
Surgical removal is carried out only in extreme cases, while the resulting neoplasm is completely removed. Usually, the condition of the child after surgery quickly returns to normal. During the rehabilitation period, doctors prescribe hormonal drugs to the baby, thanks to which he recovers quite quickly.
It is not worth delaying the decision to carry out the operation, because this can cause internal organs damage irreversibly.
Physiotherapy
Pneumatic compression is a modern effective treatment for thrombocytopenia and hemangiomas. Such therapy is allowed for children who are contraindicated in anticoagulants.
Pneumatic compression leads to increased venous outflow from places of accumulation of blood. This procedure most often allows you to completely eliminate the resulting tumor.
Radiation therapy can also be indicated for small patients with the ineffectiveness of conservative methods of treatment. The mechanism of this procedure is quite simple: under the influence of radiation, tumor cells simply collapse.
Cryodestruction can be used if the hemangioma is located outside. To eliminate the tumor in this case, the lowest possible temperatures are applied, which lead to cell destruction.
Forecast
Hemangioma (ICD-10 code - P83) is a pathology that can be completely cured. The only dangerous consequence of the disease is the development of DIC and subsequent hemorrhage in the brain or vital organs. Indeed, against the background of such a pathology, they can completely fail.
In addition, children who have had Kazabah-Merritt syndrome are often exposed to the development of chronic diseases.
So, it is very important to conduct therapy on time and, in the absence of the necessary effect, proceed to neutralize hemangiomas in a radical way.