IntroductionCardiac surgery is the most challenging major invasive procedure in haemophilia. It involves the use of coagulation factor replacement, heparin therapy, antifibrinolytics, platelet antiaggregants, and is associated with surgical trauma, extracorporeal circulation, cardioplegia, and hypothermia, making it highly complex.MethodCase presentation.ResultsWe present our experience managing a 64-year-old patient with severe haemophilia A (SHA) without inhibitors who underwent open aortic valve replacement and reduction plasty of the dilated ascending aorta under cardiopulmonary bypass (CPB). His history included SHA complications and cardiac failure due to severe aortic regurgitation. In accordance with international guidelines, the following have been decided: surgical intervention, complex medical therapy, a rigorous multidisciplinary team approach, and accurate, proper laboratory monitoring. The biological valve was successfully implanted, and the aorta was tubularly reduced to a 35 mm diameter, while maintaining its symmetry. The patient was cared for in the intensive care unit for 2 days, with CPB weaned after 1 h and 20 min; he was discharged after 10 days, with a recommendation for continuous prophylaxis with FVIII, combined with fractionated heparin for 3 months, and thereafter switched to aspirin for another 3 months. Immediate and long-term outcomes were good, with no bleeding, thrombotic events, or other complications.Discussion/conclusionBalancing conflicting hemostatic factors in a controversial biological environment was a challenging life-saving task. It required accurate, continuous lab monitoring as a key prerequisite for personalised therapy. The immediate and long-term evolution was good, free of complications.

Immune thrombocytopenia (ITP) is an autoimmune disorder often triggered by prior viral infections. Although there is considerable evidence suggesting platelets act as passive bystanders during viral illnesses, they are increasingly recognised as active participants in their interactions with viruses. Our descriptive observational retrospective study, conducted at a tertiary hospital in Romania, aimed to evaluate the impact of viral infections on the incidence and outcomes of ITP. This cohort study focused on newly diagnosed ITP cases over a 10-year period, comparing two patient groups: the first group (I-306 patients) from the viral outbreak period (2020–2024) and the second (II-213 patients) from an epidemic-free period (2015–2019). Despite non-pharmacological measures implemented to prevent respiratory infection spread, the number (p = 0.05) and incidence (p = 0.001) of newly diagnosed ITP cases in hospitalised children increased significantly, mainly associated with severe acute respiratory syndrome coronavirus 2 (r = 0.967, p = 0.007), Epstein–Barr virus (r = 0.974, p = 0.004), and influenza (r = 0.901, p = 0.037), with mild thrombocytopenia (p = 0.028). The severity and persistence or chronicity of ITP remained unchanged. The rise in newly diagnosed ITP cases, even without increased severity or chronic evolution, may impose a substantial burden of medical and non-medical costs, highlighting the need for preventive measures during risky viral infection outbreaks.

Introduction Patients with myeloproliferative neoplasms (MN) have the complication in both side of hemostasis – related to bleeding and thrombosis. The major goal of therapy is to reduce thrombosis risk, which impacts MN morbidity and mortality. However, in lifelong evaluating quality of life during the disease course, the bleeding has also important role. Acquired von Willebrand disease (AvWD) may result from increased proteolysis together with platelet activation, which leads to reduced von Willebrand factor activity (vWFact). Holding hemostatic balance in prophylactical management to prevent complications is challenging, and understanding predicting factors valuable for physician. Approximately 60% of patients with MN carry a genetic mutation: it's suggested that in MPN thrombocytosis has a higher risk of bleeding than thrombosis, aspirin may exacerbate this risk of bleeding in CALR-mutated essential thrombocythemia (ET) and JAK2 V617F mutation increases risk of thrombotic complications. We analyzed our MN patient cohort to lab analysis related to hemostasis and genetic testing in order to have better understanding in the patient's profile [1] [2] [3].

Despite the controversies regarding the appropriateness and justification of simultaneous bi- and multi-concomitant surgical procedures, this operative technique is increasingly undertaken for economic reasons. This paper discusses three cases of simultaneous interventions: two involving osteoarticular procedures and one involving a complex approach encompassing general and plastic surgery. The indications in emergency-driven cases are mandatory, life-saving, and limb-saving, and not subject to debate.

A coincidental occurrence of severe haemophilia A and Turner syndrome in a female person is extremely rare (less than 10 cases published). In such challenging cases, a multidisciplinary approach based on medicine of precision with full access to genetic and bio-molecular exploration is indispensable. The article presents an eight-year-old girl, with a family history of haemophilia, without significant disease signs (only post-dental extraction bleeding and a shorter stature). Discordantly, however, the investigations revealed a challenging condition: a genotype of 46,X,i(Xq), with an Isochromosome Xq responsible for the Turner syndrome and simultaneously, for the detrimental transformation, interfering with X chromosome inactivation, of an obligate hemophilia carrier into a severe hemophilia case—two distinct and provocative diseases.

(1) Background: Mild and moderate hemophilia, synonymous with non-severe hemophilia (NSH), are of constant interest for the clinicians. Bleeding occurs usually after trauma, injury, surgery, or inhibitor development, sometimes leading to a shift of the clinical phenotype from mild to severe, even with life-threatening and unexpected outcomes. (2) Methods: We performed a retrospective observational study conducted on 112 persons with congenital coagulopathies, 26 of them with NSH, admitted to our clinic in the period 2000 to 2022. For the diagnosis, we used laboratory studies (complete blood cell count, coagulation assays, biochemistry, thromboelastography, genetic tests) and imaging investigations (X-ray, ultrasound, CT, MRI). We selected four cases confronted with pitfalls of diagnosis and evolution in order to illustrate the sometimes provocative field of NSH. (3) Results: Confronted with challenging cases with under-, missed or delayed diagnosis and severe consequences, we aimed at presenting four such selected cases with mild or moderate hemophilia, real pitfalls in our clinical activity. (4) Conclusions: In the field of NSH, if not timely recognized, tending sometimes to remain ignored by caregivers and patients themselves, we can be confronted with challenging diagnostic situations and life-threatening bleeds.

Hemophilia is a congenital, hereditary, rare bleeding disorder, which fortunately has nowadays an optimal therapeutical solution, namely a life-long replacement therapy (RT) with the missing coagulation factor VIII (hemophilia A) or IX (hemophilia B). Inappropriate treatment results in secondary morbidity, dominated by the chronic hem arthropathy, with high medical and socioeconomic burden. Objectives: As in our country, RT has been started only in 1997 and a real prophylactic replacement (PR) only in 2016/2017, we aimed at conducting a study of persons mainly with prophylactic RT and of those mainly with on-demand (OD) regimen for obtaining a comparative evaluation of the medical and socio-economic outcomes. Material and methods: This observational cross-sectional patient-reported outcome (PRO) survey included 122 patients with a severe form of the disease, willing to answer to a large questionnaire with 56 items focused on 4 domains: socio-demographic, medical, quality of health and life, and direct costs of care. Results: There have been assessed striking, statistically different results, concerning the markers which reveal clinical severity (annualized joint and non-joint bleeding rate, target joints, hem arthropathy), the need for chronic analgesic therapy and orthopedic interventions, frequency of deficiency, disability, handicap and social assistance in the group of persons with OD treatment vs. PR. The high costs related to surgical interventions and occurrence of inhibitors have been underlined, related to a secondary morbidity of hemophilia. Conclusions: The favorable effects of PR are evident also in our country; its high costs are counterbalanced by the deleterious health and quality of life results of OD treatment, and also by its high costs for the specific secondary morbidity, pleading in the favor of PR, in accordance with the principles of care in Europe.

Introduction: Lupus anticoagulant (LAC) belongs to a heterogeneous group of antibodies directed against negatively charged phospholipid-binding proteins, inhibiting phospholipid-dependent reactions. We assessed the frequency, etiological background, clinical and biological expression as well as the appropriate management and outcome of LAC in a pediatric population. Patients and methods: We included 19 pediatric patients diagnosed with a positive LAC test during a period of 1 year. LAC detection was carried out according to the ISTH/SCC guidelines 2012. Coagulometric assays were performed in order to check for coagulation factor activities. The presence of specific inhibitors has been tested by the Bethesda assay. Results: LAC was positive in 0.4% of the patients monitored for increased activated partial thromboplastin time (aPTT) during the study period of 1 year. In contrast to the asymptomatic clinical image presented by the majority of our patients, the biological picture was dominated by an elevated aPTT (79 %), the aPTT ratio correlating significantly with the strength of LAC. In 58 % of the patients LAC became negative within 12 weeks, in another 4 (21%) patients within 20 weeks, whereas in 4 (21%) patients LAC remained positive throughout the follow-up. Conclusion: Albeit usually innocent in asymptomatic patients, LAC needs to be seriously taken into consideration from the diagnostic point of view in order to avoid dangerous therapeutic attitudes..

Neutropenia is commonly diagnosed in pediatric clinics. Due to the special vulnerability of neutropenic patients, the assessment of the etiopathogenic background of neutropenia is mandatory. In this retrospective cross-sectional cohort study, we aimed to establish the status of primary autoimmune neutropenia (AIN) from the point of view of its clinical and biological features and its outcome in a cohort of pediatric patients. We recorded all of the 3,488 cases consecutively admitted to our hospital for different diagnoses but presenting neutropenia, during a period of 3 years (January 2016 to December 2018). We had to exclude 224 patients from the analysis due to incomplete data. Our study focused on patients with AIN or chronic benign neutropenia of infancy and childhood. In these patients, a granulocyte antibody screening by granulocyte immunofluorescence test (GIFT) and the granulocyte agglutination test (GAT) were performed. Regarding their pathogenic background, 0.1% of the patients presenting neutropenia were congenital forms, the rest being acquired forms. Primary AIN was encountered in 18 cases, representing approximately 0.5%. The median age at onset for primary AIN was 7.5 months. Male/female ratio in AIN was 1.94. In 72% of the patients with AIN, neutropenia was severe during the course of disease. In 3 patients, both GIFT and GAT were positive and in 8 patients, only GIFT was positive. For the remaining 7 patients (39%), both GIFT and GAT revealed negative results. 50% of the patients needed hospitalization, but only 3 patients presented severe infections. On-demand G-CSF was administered in 22% of the patients. Our study provides insight with regard to neutropenia, showing the high frequency and etiological diversity in childhood. Primary AIN is usually diagnosed by exclusion of the other causes of neutropenia. GIFT and GAT are useful, but rarely available diagnostic tools for the confirmation of primary AIN.

Comorbidity in hemophilia, a pathology non-related to the primary disease, is a relatively new chapter, catching interest along with the revolutionary improvement of the outcomes of this coagulopathy. Aim: As prophylactic replacement therapy has been only recently introduced in our country, we aimed at assessing the frequency and the medical and financial impact of the surgical life-saving interventions of some challenging comorbidities of hemophilia. Material and methods: In the frame of a retrospective observational PRO (Patient Reported Outcomes) model survey conducted on 122 persons with severe congenital coagulopathies in the period of 2019-2020, we focused our attention on surgical comorbidities compared with surgical secondary morbidity. Results: There were performed 17 surgical interventions on 16 patients, 35.95% of them being for comorbidities. The comparative analysis of the two cohorts of patients, with comorbidities versus secondary morbidity, revealed some significant discrepancies: heterogeneity of the pathologic conditions claiming surgery and the modality of its performance, emergency or elective decision. There were registered also some similarities: age of patients and quality of outcomes. What concerns the financial impact, the medical direct costs were also similar. Conclusions: Surgical comorbidities are a high medical and economic burden for hemophilia care, claiming a comprehensive analysis of their approach in order to prospectively find out the best cost-effective and cost-efficient solution on country level for these unexpected, unpredictable diseases.

Hemophilia, a congenital X linked disease, has the serious burden of bleeding, requiring life-long replacement with coagulation factors (CF). In the present day, there is a continuously improving treatment for this condition. Objective: Our observational, cross-sectional study aims at finding out whether a prophylactic replacement with CF is affordable from the point of view of its cost-effectiveness in our country. Material and methods: A cohort of 122 persons with Hemophilia were included in this patient-reported outcome survey, and they answered a questionnaire consisting of 56 items, focused on 4 domains—socio-demographic, medical, quality of health/life and cost/cost-effectiveness. Results and discussion: The markers for quality of health/life were correlated with the direct and indirect costs of care, comparing subgroup 1 of patients with prophylactic vs. subgroup 2 with on-demand replacement. Based on the incremental quality adjusted life years and the incremental costs, we calculated the incremental cost-effectiveness ratio (ICER) proving that prophylaxis is more cost-effective than on-demand replacement on a long time basis. Conclusions: The ICER is a threshold recommending the reimbursement of costs for a life-long prophylactic replacement in our country.

Aim. To evaluate the dental health status and its relationship with the replacement therapy in persons with haemophilia (PwH). Material and methods. In this descriptive non-interventional cross-sectional study we included a number of 47 patients, divided in 2 distinct age groups: 12 patients under- and 35 above 18 years of age. Demographic information, laboratory findings and dental health status were recorded in a standard form. Dental health was evaluated by means of the decay -missing- filling teeth (DMFT) index and plaque index (PLI); these parameters were correlated with the quality of replacement therapy and compared to a matched control group. Results and discussions. The image offered by our descriptive cross-sectional study revealed a dental status in hemophilic children comparable with that of the children from the matched control group. On the contrary, adult PwH have a dismal DMFT and PLI indexes; they are in significant correlations with the quantity and frequency of replaced coagulation factors. Conclusions. The findings highlight the need of comprehensive oral examinations including preventive dental treatment and follow-up care in the PwH connected to an adequate replacement therapy.