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Background. Paroxysmal nocturnal hemoglobinuria is a rare clonal disease of the hematopoietic system, with the key manifestations of hemolytic anemia, a high thrombosis rate, and bone marrow failure. Despite the high efficacy of C5‑inhibitors in intravascular hemolysis cessation, a significant proportion of patients remain anemic. Causes of a sub‑optimal response may include C3‑mediated extravascular (intracellular) hemolysis, residual intravascular hemolysis, or bone marrow failure.Aim. To analyze the results of pathogenetic therapy in patients with paroxysmal nocturnal hemoglobinuria.Materials and methods. The study included 55 patients with paroxysmal nocturnal hemoglobinuria receiving complement C5 inhibitors for at least 6 months. Results. Suboptimal hematological response was observed in 31/55 (56 %) patients. The most common cause of anemia in the partial response group was C3‑mediated extravascular hemolysis in 8/10 (80 %), while bone marrow failure predominated (57 %) in the minor response group.Conclusion. The study showed a high frequency of suboptimal response to pathogenetic therapy and necessity of ac‑curate determination of leading cause of persistent anemia in order to modify therapy or switch to other drugs.

This article presents the results of studies on high prevalence of left ventricular noncompaction (LVNC) in patients with secondary hemochromatosis (SH). We also included case reports of patients with SH and LVNC and compared imaging data using modified modern criteria for LVNC and molecular genetic testing (MGT). In patients with cardiac hemochromatosis, left ventricular noncompaction is noted, the nature of which is most likely secondary. In order to confirm this hypothesis, a prospective observational study, including family screening and MGT, is required.

Enzyme replacement therapy (ERT) is the standard for the treatment of Gaucher disease (GD). A lifelong intravenous administration of a recombinant analogue of human glucocerebrosidase compensates for the functional deficiency of its own enzyme. The use of ERT has changed the clinical phenotype of GD, a severe progressive disease has been turned into the status of an asymptomatic metabolic defect. At the same time, a reduced dosing ERT regimen applied in Gaucher patients who had achieved therapeutic goals has not yet been developed.

Differential diagnosis of bone involvement in patients with Gaucher disease can be challenging. Other diseases with similar radiological signs should be ruled out. Here we present a clinical case of tuberculous sacroiliitis in the patient with type I Gaucher disease. Advanced radiological methods of examination are described. Our case report proves the necessity of an individual approach to the management of such cohort of patients.

Constrictive pericarditis (CP) is the final stage of a chronic inflammatory process characterized by fibrous thickening and calcification of the pericardium that impairs diastolic filling, reduces cardiac output, and ultimately leads to heart failure. We present a clinical case of CP in a patient with rare inherited bleeding disorder - factor VII deficiency. Heart failure due to CP was suspected based on clinical symptoms, results of ultrasonic and radiological investigations. The diagnosis was verified by the results of cardiac magnetic resonance imaging. Pericardectomy was performed resulting in significant improvement in the patient’s condition.

Gaucher disease is the most common form of hereditary enzymopathies combined into a group of lysosomal storage diseases. The basis for the disease is a hereditary deficiency of the activity of acid β-glucosidase, a lysosomal enzyme involved in the catabolism of lipids, which results in the accumulation of nonutilized cellular metabolism products in the macrophage lysosomes. The main clinical manifestations of type 1 Gaucher disease are cytopenia, hepatomegaly, and splenomegaly, and bone lesion. One of the atypical clinical manifestations of Gaucher disease is damage to the lungs with the development of pulmonary hypertension, which is usually considered within the underlying disease — the development of pneumosclerosis due to macrophage dysfunction. The paper describes a case of progressive pulmonary hypertension in a patient with type 1 Gaucher disease.