Neonkologická hematologie a vnitřní lékařství

Jaroslav Čermák

Vnitr Lek 2018, 64(5):465  

Differential diagnosis of anemia

Jan Válka, Jaroslav Čermák

Vnitr Lek 2018, 64(5):468-475 | DOI: 10.36290/vnl.2018.067  

Anemia, defined as hemoglobin level under lower normal limit, is a symptom of different pathologic conditions and the accurate differential diagnosis is necessary to determine the cause of anemia. The article uses the morphological classification of anemia to distinguish macrocytic, normocytic and microcytic types of anemias and divides anemias with increased amount of peripheral blood reticulocytes as a special group. It describes commonly known clinical units as iron deficiency anemia or anemia of chronic disease, as so as rare clinical units, which are always need to think about in a differential diagnosis of an anemic patient. There is an increasing...

Hemoglobinopathies

Karel Indrák, Martina Divoká, Dagmar Pospíšilová, Jaroslav Čermák, Monika Beličková, Monika Horváthová, Vladimír Divoký

Vnitr Lek 2018, 64(5):476-487 | DOI: 10.36290/vnl.2018.068  

This article summarize molecular-genetic basis of hemoglobinopathies, their classification and phenotypic manifestations. The description of individual subgroups is supplemented with a case reports of patients diagnosed in the Czech population. This paper provides an overview of 14 types of α-thalassemic mutations, 34 β-thalassemic alleles, 4 δβ-thalassemic alleles and 22 hemoglobin variants identified in the Czech population in 876 persons from 579 families. In more detail are described hemoglobinopathies, that have been diagnosed and described as novel: β-thalassemic mutation CD 38/39 (-C); Hb Olomouc; Hb Hana; Hb Hradec...

Rare anemias from the group of congenital bone marrow failure syndromes

Dagmar Pospíšilová

Vnitr Lek 2018, 64(5):488-500 | DOI: 10.36290/vnl.2018.069  

This review summarizes the pathophysiology, genetic background and clinical symptoms of anemias belonging to the group of inherited bone marrow failure syndromes with unilineage failure of erythropoiesis. It sums up the current knowledge of three diseases: Diamond-Blackfan anemia, congenital dyserythropoietic anemia and Fanconi anemia whose pathophysiology was elucidated in detail during the last decade, owing to the rapid development of new molecular-genetic techniques, especially next-generation sequencing. Fanconi anemia is included in this overview because of macrocytosis and/or anemia detected in the majority of the patients before they develop...

Aplastic anemia

Jaroslav Čermák

Vnitr Lek 2018, 64(5):501-507 | DOI: 10.36290/vnl.2018.070  

Aplastic anemia - bone marrow failure (AA) is defined as pancytopenia with hypocellular bone marrow without signs of marrow fibrosis or of presence of abnormal cells. Recent studies showed that most of AA cases might be mediated by immune mechanisms. Toxic agent leads to expression of neoantigens or cryptic antigens on the surface of pluripotent hematopoietic stem cells with subsequent activation of immune effector cells and induction of stem cell apoptosis. Histopathological findings obtained from bone marrow biopsy are crucial for diagnosis of AA. Hypoplastic MDS, PNH, hairy cell leukemia and late manifestation of congenital cytopenias must be excluded...

Paroxysmal nocturnal hemoglobinuria

Jaroslav Čermák

Vnitr Lek 2018, 64(5):508-513 | DOI: 10.36290/vnl.2018.071  

Paroxysmal nocturnal hemoglobinuria (PNH) results from a deficiency in inhibitors of activated complement. This lack leads to complement mediated intravascular hemolysis, to activation of coagulation system with increased risk of thrombotic complications and to various degree of bone marrow failure. A molecular basis of PNH is a somatic mutation of PIGA gene causing a lack of glycosyl phosphatidyl inositol which binds many important antigens to cell surface membrane including inhibitors of activated complement CD59 and CD55 antigens. Presence of CD59 and CD55 deficient cells in peripheral blood detected by flow cytometry is essential for diagnosis...

Autoimmune hemolytic anemia

Jaroslav Čermák, Martin Písačka

Vnitr Lek 2018, 64(5):514-519 | DOI: 10.36290/vnl.2018.072  

Autoimmune hemolytic anemia (AIHA) is caused by auto-antibodies directed against self red blood cell (RBC) surface antigens. A consequence may be an intravascular hemolysis mediated by activated complement or extravascular hemolysis caused by destruction of complex of RBC with autoantibody in spleen and liver. The basic classification subdivides AIHA in primary/idiopathic and secondary with known underlying disease. A classification according to the thermal range of antibody recognizes warm AIHA, cold aglutinin disease (CAD), mixed AIHA and paroxysmal cold hemoglobinuria. Pathogenesis of AIHA consists of a defective antigen presentation to immunocompetent...

Granulocytopenia

Jaroslav Čermák

Vnitr Lek 2018, 64(5):520-525 | DOI: 10.36290/vnl.2018.073  

Granulocytopenia is defined as a decrease of peripheral blood granulocytes below lower limit of normal range. Patients with severe granulocytopenia - agranulocytosis exhibit < 0.5 × 10⁹/l granulocytes in peipheral blood. Granulocytopenia may result from congenital or acquired defective production of granulocyte precursors or it may be a consequence of increased destruction of mature granulocytes, most frequently caused by immune mechanisms. Investigation of origin of granulocytopenia must be connected with exclusion of etiological agents causing secondary neutropenia (infections, autoimmune disorders, drugs, LGL syndrome). Patients with...

Diagnosis and treatment of immune thrombocytopenia

Libor Červinek

Vnitr Lek 2018, 64(5):526-529 | DOI: 10.36290/vnl.2018.074  

The diagnosis of immune thrombocytopenia consists in the combination of laboratory and clinical pictures of thrombocytopenia while eliminating other disorders characterized by low levels of thrombocytes. The treatment initiation in patients with ITP is recommended when the thrombocyte count has dropped below 20-30 × 10⁹/l, when hemorrhagic manifestations occur and depending on the patient's risk profile. Corticoids and IVIG are used as first-line treatment. Second-line treatment includes splenectomy, immunosuppressive therapy and administration of thrombopoietin receptor agonists. A new drug in the treatment of ITP is fostamatinib.

Hematopoietic stem cell transplantation for non-malignant hematological disorders

Renata Formánková, Jan Starý

Vnitr Lek 2018, 64(5):530-536 | DOI: 10.36290/vnl.2018.075  

Allogeneic hematopoietic stem cell transplantation (HSCT) is currently successfully used in the treatment of many non-malignant hematopoietic disorders, including acquired and inherited bone marrow failure. HSCT from a HLA-identical sibling donor (MSD) is the treatment of choice, better results are achieved using bone marrow graft. Conditioning regimens and graft-versus-host disease prophylaxis are different in dependence on the underlying disease, age and clinical condition of the patient, type of donor and stem cell graft. Transplantation from MSD is the first-line treatment for children and young adults with SAA. Patients with hemoglobinopathies...

Diagnostic strategies in disorders of hemostasis

Ingrid Hrachovinová

Vnitr Lek 2018, 64(5):537-544 | DOI: 10.36290/vnl.2018.076  

Hemostasis is a complicated biological system, where the balance between procoagulation and anticoagulation processes maintains fluidity of blood through intact blood vessels and creates thrombi when it is needed to prevent bleeding from the impaired vessels. The modern model of hemostasis is divided into 2 principal phases, the first being defined as primary hemostasis which involves the platelet-vessel interplay, while the second, defined as secondary hemostasis, mainly involves coagulation factors and surfaces of activated cells. The activation and amplification of the coagulation cascade is regulated by natural inhibitors of coagulation. The blood...

Congenital and acquired bleeding disorders

Peter Salaj

Vnitr Lek 2018, 64(5):547-558 | DOI: 10.36290/vnl.2018.077  

Hemostasis can be characterized as an array of physiological mechanisms providing both blood fluidity in the intact blood vessels and hemostasis in the event of impaired continuity of the blood vessel wall. The impaired hemo-static balance may lead on the one hand to an increased tendency to bleed, either spontaneously or only in response to an external stimulus. At the opposite end of bleeding are thrombophilic conditions characterized by an increased tendency to blood coagulation and thereby to the development of venous or arterial thrombosis. The hemostatic balance is the result of normal functioning of the blood vessel wall, platelets and plasma...

Investigation of congenital thrombophilic conditions: when, in whom, focusing on what or not at all?

Petr Dulíček, Eva Ivanová, Zuzana Fiedlerová

Vnitr Lek 2018, 64(5):559-563 | DOI: 10.36290/vnl.2018.078  

Venous thromboembolism is a multifactorial disease. Inherited thrombophilia is linked with increased risk of VTE and we know about them more than 50 years. Through a robust thrombophilia work-up in the end of millenium, the criteria for testing have significantly gone down. It is associated with increased amount of information about clinical consequence of testing. We discuss current recommendations not only in the literature, but also in our clinic.

Antithrombotics today

Miloslava Matýšková, Jana Michalcová, Miroslav Penka

Vnitr Lek 2018, 64(5):565-574 | DOI: 10.36290/vnl.2018.079  

Over the last 10 years some new drugs affecting blood clotting - antithrombotics - were invented. For more than half a century only warfarin and heparin were available. A better understanding of the pathways involved in activation of blood clotting, the links between these systems, and the impact of thrombosis on inflammation, have led to identification of new targets and development of new drugs, especially new antiplatelet drugs and anticoagulants. With the advent of new drugs into clinical practice, treatment options of thrombotic complications are expanding. However, it is always necessary to get familiar with the drug and its properties and to...