Thrombotic thrombocytopenic purpura (TTP) is a life-threatening, often immune-mediated disease that affects 2–13 persons per million per year. Hemolytic anemia, thrombocytopenia, and end-organ damage due to the formation of microthrombi are characteristic of TTP. ADAMTS13 is a disintegrin, metalloproteinase, cleaving protein of von Willebrand factor (VWF) that processes the VWF multimers to prevent them from interacting with platelets and, in turn, to microvascular thrombosis. Prompt diagnosis of TTP is critical yet challenging. Thrombotic microangiopathies have similar clinical presentation. Measurement of ADAMTS13 activity helps in the differential diagnosis. Less than 10% ADAMTS13 activity is indicative of TTP. Laboratory ADAMTS13 activity assays include incubating the test plasma with the substrate (full-length VWM multimers) and detection with direct or indirect measurement of the cleavage product. The purpose of this study is to examine the diagnostic potential, advantages, and weaknesses of the ADAMTS13 potency in TTP.

Invasive fungal diseases (IFDs) have been documented among the causes of post-chimeric antigen receptor-T (CAR-T) cell immunotherapy complications, with the incidence of IFDs in CAR-T cell therapy recipients being measured between 0% and 10%, globally. IFDs are notorious for their potentially life-threatening nature and challenging diagnosis and treatment. In this review, we searched the recent literature aiming to examine the risk factors and epidemiology of IFDs post-CAR-T infusion. Moreover, the role of antifungal prophylaxis is investigated. CAR-T cell therapy recipients are especially vulnerable to IFDs due to several risk factors that contribute to the patient’s immunosuppression. Those include the underlying hematological malignancies, the lymphodepleting chemotherapy administered before the treatment, existing leukopenia and hypogammaglobinemia, and the use of high-dose corticosteroids and interleukin-6 blockers as countermeasures for immune effector cell-associated neurotoxicity syndrome and cytokine release syndrome, respectively. IFDs mostly occur within the first 60 days following the infusion of the T cells, but cases even a year after the infusion have been described. Aspergillus spp., Candida spp., and Pneumocystis jirovecii are the main cause of these infections following CAR-T cell therapy. More real-world data regarding the epidemiology of IFDs and the role of antifungal prophylaxis in this population are essential.

Hematopoietic stem cell transplantation (HSCT) remains a cornerstone in the management of patients with hematological malignancies. Endothelial injury syndromes, such as HSCT-associated thrombotic microangiopathy (HSCT-TMA), veno-occlusive disease/sinusoidal obstruction syndrome (SOS/VOD), and capillary leak syndrome (CLS), constitute complications after HSCT. Moreover, endothelial damage is prevalent after immunotherapy with chimeric antigen receptor-T (CAR-T) and can be manifested with cytokine release syndrome (CRS) or immune effector cell-associated neurotoxicity syndrome (ICANS). Our literature review aims to investigate the genetic susceptibility in endothelial injury syndromes after HSCT and CAR-T cell therapy. Variations in complement pathway- and endothelial function-related genes have been associated with the development of HSCT-TMA. In these genes, CFHR5, CFHR1, CFHR3, CFI, ADAMTS13, CFB, C3, C4, C5, and MASP1 are included. Thus, patients with these variations might have a predisposition to complement activation, which is also exaggerated by other factors (such as acute graft-versus-host disease, infections, and calcineurin inhibitors). Few studies have examined the genetic susceptibility to SOS/VOD syndrome, and the implicated genes include CFH, methylenetetrahydrofolate reductase, and heparinase. Finally, specific mutations have been associated with the onset of CRS (PFKFB4, CX3CR1) and ICANS (PPM1D, DNMT3A, TE2, ASXL1). More research is essential in this field to achieve better outcomes for our patients.

Background/Objectives: Antiphospholipid syndrome (APS) is a systemic autoimmune disease characterized by thrombosis or obstetric complications and the laboratory detection of antiphospholipid antibodies. Although vascular thrombosis is the main manifestation of the disease, other rarer complications have also been described. Avascular necrosis (AN) is considered a rare manifestation of APS. The aim of our case series is to study patients with APS and AN. Methods: A retrospective study was performed on 80 patients diagnosed with APS. Results: AN was observed in 3 patients out of 80 diagnosed with APS. AN of the femoral head was observed in all cases. Case (1): A 54-year-old woman presented due to multiple ischemic infarctions in the brain, as detected in magnetic resonance imaging of the brain, Raynaud’s phenomenon, and AN of the femoral head. In laboratory testing, a prolongation of activated partial thromboplastin time was recorded. A heterozygous mutation was also found in the gene MTHFR C677T, and the patients was positive for lupus anticoagulant (LA). The patient was given clopidogrel and acenocoumarol. Case (2): A 52-year-old man was diagnosed with APS, based on the clinical presentation (stroke) and positivity for LA and anti-β2GPI (anti-β2 glycoprotein I antibody). In his medical history, episodes of vertigo and an episode of AN of the femoral head 2 years ago were described. Case (3): A woman aged 43 years presented due to AN of the femoral head. Due to suspected APS, immunological testing was performed, and positivity for LA and IgM anticardiolipin antibodies was detected. She was treated with acenocoumarol. Conclusions: AN is a rare clinical manifestation of APS, which may precede the diagnosis of APS for many years.

(1) Background: Antiphospholipid syndrome (APS) is associated with thrombotic events and the laboratory identification of antiphospholipid antibodies (aPL), in which lupus anticoagulant (LA), anticardiolipin (aCL), and anti-β2 glycoprotein I antibodies are included. The aim of the current retrospective study is to examine clinical characteristics and risk factors of ischemic stroke as a clinical manifestation of APS. (2) Methods: Adult patients diagnosed with APS between 1 January 2009 and 1 June 2024 were retrospectively enrolled in this study. Sydney-revised Sapporo criteria were used for the diagnosis of APS, while ischemic stroke was diagnosed based on the acute onset of focal neurologic deficits and confirmed with radiological findings. (3) Results: We studied 115 patients with APS. Specifically, 28 (24.35%) patients, with a mean age (standard deviation) of 54 (±12.5), had ischemic stroke as a clinical manifestation of APS. In univariate analysis, stroke development was associated with the following factors: age (p < 0.001), livedo reticularis (p = 0.046), avascular necrosis (AVN) (p = 0.046), hypertension (p < 0.001), dyslipidemia (p = 0.013), aCL IgG (U/L) antibodies title (p = 0.035), and adjusted global APS score (aGAPSS) (p = 0.047), while in multivariate analysis, it was associated with age (p = 0.006), hypertension (p < 0.001), AVN (p = 0.006), livedo reticularis (p = 0.035), aCL IgG title (p = 0.004), and aGAPSS (p = 0.002). (4) Conclusions: Stroke is a common initial manifestation of APS, with cardiovascular risk factors, particularly hypertension, being highly prevalent.

This study evaluates the health-related quality of life (HRQoL) among patients with hemophilia A currently undergoing prophylactic treatment at the Hemophilia Center of Northern Greece. Using the Haem-A-QoL questionnaire, we assessed various HRQoL dimensions in a cohort of 29 adult male patients, analyzing the impact of age, disease severity, and treatment regimens. The results revealed that younger patients (18–30 years old) exhibited significantly better overall HRQoL scores (total score of 25.36) compared to older age groups (37.81 for the 31–45 group and 43.71 in the 45+ group), particularly in the physical health (29.16 vs. 48.43 vs. 58.57) and mental well-being domains (25 vs. 37.11 vs. 41.07). Interestingly, moderate hemophilia patients reported lower HRQoL (42.31) than those with severe form (34.85), suggesting unique challenges in managing their condition. The ’Sports/Free Time’ domain had the highest scores (65.81), indicating significant limitations in physical activities in the everyday lives of affected individuals. However, better outcomes were observed in the mental dimension (36.09), work/study (34.88), family planning (10.68), and relationships aspects (16.67), where our cohort reported very low scores compared to similar studies, indicating a significantly better quality of life in these domains. These findings highlight the importance of personalized psychosocial support and targeted interventions to address the specific needs of hemophilia patients, particularly in enhancing physical activity opportunities and managing the psychological burden of moderate hemophilia. The study contributes valuable insights into the HRQoL of hemophilia patients and underscores the necessity for tailored approaches to improve patient outcomes across all dimensions of life.