Antiphospholipid syndrome (APS) is a hypercoagulation condition associated with the incidence of heterogenic antiphospholipid antibodies (aPLs), which non-specifically affect hemostasis processes. APS is clinically manifested by recurrent arterial and venous thromboses and reproduction losses. The aPL antibodies, which may induce clinical manifestations of APS, include criteria antibodies anti-cardiolipin, anti-β2-glycoprotein-I, and lupus anticoagulant, but also non-criteria antibodies, for example anti-β2-glycoprotein-I domain I, anti-phosphatidylserine/prothrombin, anti-annexin V, and many others. APS occurs mostly in patients of younger and middle age, most frequently in females. Laboratory diagnostics of APS are quite difficult, as they include a wide spectrum of examining methods, which are based on various principles of detection and are performed using various laboratory techniques. The objective of the review is to describe the current state of potentially examined biomarkers and methods in APS diagnostics. The aforementioned biomarkers are lupus anticoagulant, anti-β2-glycoprotein-I, anti-cardiolipin, anti-β2-glycoprotein-I domain I, anti-phosphatidylserine/prothrombin, anti-β2-glycoprotein-I IgA, anti-cardiolipin IgA, anti-annexin V and II, anti-prothrombin, anti-cardiolipin/vimentin, anti-protein S/protein C, and antibodies against phospholipid antigens for whose diagnostics we may use some of the methods established for a long time and some of the modern methods—the coagulation method for the determination of lupus anticoagulant (LA), enzyme-linked imunosorbent assay (ELISA), chemiluminescence analysis (CLIA), multiplex fluorescence flow immunoassay (MFFIA), fluorescence enzyme immunoassay (EliA), line immunoassay (LIA), multiline dot assay (MLDA), and thin-layer chromatography (TLC). Conclusion: Antibodies against phosphatidylethanolamine, phosphatidic acid, phosphatidylserine, phosphatidylinositol, cardiolipin/vimentin complex, and annexin V are currently the most studied new markers. However, these assays have not been standardized until now, both from the laboratory and clinical point of view. In this review we summarize the evidence of the most studied aPL markers and their potential clinical significance in seronegative APS (SN-APS).

III. interní klinika -nefrologická, revmatologická a endokrinologická, FN a LF UP Olomouc 2 Ústav imunologie, FN a LF UP Olomouc 3 Klinika chorob kožních a pohlavních, FN a LF UP Olomouc Systémová sklerodermie (SSc) je systémové imunitně mediované onemocnění pojiva charakterizované fibroproduktivními změnami v pojivové tkáni a mikrovaskulárními poruchami. Onemocnění postihuje kůži, pohybový aparát a vnitřní orgány. Jedná se o onemocnění s vysokou mírou morbidity a mortality, výrazně zhoršující kvalitu života pacientů. Pro zabránění progrese choroby je nutné včasné zahájení terapie. Tento přehledový článek se věnuje současným možnostem časné diagnostiky systémové sklerodermie.Klíčová slova: diagnostika, časné formy sklerodermie, systémová sklerodermie. Early diagnosis of systemic sclerodermaSystemic scleroderma (SSc) is a systemic immune-mediated connective tissue disease characterized by fibroproductive changes in connective tissue and microvascular disorders. The disease affects the skin, musculoskeletal system and internal organs. It is a disease with a significant rate of morbidity and mortality, significantly worsening the quality of life of patients. Early initiation of therapy is necessary to prevent disease progression. This review article discusses the current possibilities of early diagnosis of systemic scleroderma.

Antiphospholipid syndrome (APS) is a hypercoagulable state accompanied by the presence of heterogeneous antiphospholipid antibodies (aPL), which nonspecifically affect hemostasis by the presence of lupus anticoagulans (LA), anticardiolipin antibodies (aCL), antibodies against β2-glycoprotein-I (anti-β2GPI), but also non-criteria antibodies such as antibodies against β2-glycoprotein-I domain I (anti-DI), anti-phosphatidylserine/prothrombin (anti-PS/PT), anti-annexin V, and many others. The main target of the antibodies is the activated protein C (APC) system, the elimination of which can manifest itself as a thrombotic complication. The aim of this study was to determine the thrombogenicity of antibodies using a modified protein C-activated thrombin generation assay (TGA) on a group of 175 samples suspected of APS. TGA was measured with/without APC and the ratio of both measurements was evaluated (as for APC resistance), where a cut-off was calculated ≤4.5 (90th percentile) using 21 patients with heterozygous factor V Leiden mutation (FV Leiden heterozygous). Our study demonstrates the well-known fact that multiple positivity of different aPLs is a more severe risk for thrombosis than single positivity. Of the single antibody positivity, LA antibodies are the most serious (p value < 0.01), followed by aCL and their subgroup anti-DI (p value < 0.05). Non-criteria antibodies anti-annexin V and anti-PT/PS has a similar frequency occurrence of thrombogenicity as LA antibodies but without statistical significance or anti-β2GPI1 positivity. The modified TGA test can help us identify patients in all groups who are also at risk for recurrent thrombotic and pregnancy complications; thus, long-term prophylactic treatment is appropriate. For this reason, it is proving increasingly beneficial to include the determination antibodies in combination with modified TGA test.

III. interní klinika -nefrologická, revmatologická a endokrinologická, FN a LF UP Olomouc Obrovskobuněčná arteriitida (GCA -Giant Cell Arteritis) je autoimunitně podmíněné systémové vaskulitické onemocnění postihující velké tepny -aortu a její větve. Je to nejčastěji se vyskytující systémová vaskulitida, manifestuje se prakticky pouze v populaci starší 50 let. Má řadu nespecifických i specifických příznaků, mezi něž se řadí bolesti hlavy, žvýkací klaudikace či příznaky revmatické polymyalgie, nezřídka se vyskytující závažnou komplikací vyžadující rychlý diagnosticko -terapeutický zásah je pak ischemicky podmíněná porucha zraku. V diagnostice onemocnění se kromě klinického a laboratorního nálezu uplatňuje celá škála zobrazovacích vyšetření vč. PET/CT a též histologické vyšetření biopsie temporální arterie. Terapie onemocnění je založena na podávání imunosupresivní medikace -základem terapie jsou glukokortikoidy, doplňkově se uplatňuje methotrexát a tocilizumab. V současnosti též probíhá pro tuto indikaci řada prospektivních klinických hodnocení moderních biologických léčiv.