A Case of Myosin Heavy Chain 9-Related Disorder Following Splenectomy Due to Misdiagnosis of Idiopathic Thrombocytopenic Purpura.

This case study reports a patient with Myosin Heavy Chain 9 (MYH9)-related disorder (MYH9-RD) which is characterized by congenital macrothrombocytopenia, Döhle-like bodies, sensorineural hearing loss, cataracts, and glomerulopathy. Often misdiagnosed as idiopathic thrombocytopenic purpura (ITP), MYH9-RD requires accurate identification to avoid inappropriate treatments like steroids, rituximab, or splenectomy. Platelet transfusions were traditionally the only therapeutic option, but thrombopoietin receptor agonists (TPO-RA), specifically eltrombopag, have shown success in MYH9-RD treatment. The case report involves a 27-year-old male with chronic ITP post-splenectomy, revealing thrombocytopenia, mild anemia, giant platelets, kidney failure, and hearing loss. Genetic testing identified a c.287C>T; p.(Ser96Leu) variant associated with MYH9-RD. Eltrombopag treatment, initiated before the definitive diagnosis, exhibited clinical and laboratory success. The study discusses the evolving landscape of treatments for inherited thrombocytopenias, emphasizing eltrombopag's efficacy, especially post-splenectomy, and its potential application in short-term preparations for elective surgeries. The study underscores the importance of timely MYH9-RD diagnosis, preventing misdiagnoses and inappropriate treatments. Eltrombopag stands out as a potential therapeutic option, offering effective platelet count management, especially post-splenectomy, with ongoing research exploring alternative TPO-RAs. As MYH9-RDs are rare, increased awareness among healthcare professionals is crucial to ensure accurate diagnoses and optimal patient care.

Lactate level is an independent predictor of mortality in patients with hematologic malignancy receiving urgent chemotherapy in intensive care unit.

BACKGROUND: Intensive care unit (ICU) survival of cancer patients has improved. Urgent chemotherapy has become feasible in critically ill patients with specific organ dysfunction due to hematological malignancies. OBJECTIVE: The aim of the study was to assess ICU mortality rates and the factors associated with mortality in patients with hematologic malignancies receiving urgent chemotherapy in the ICU. METHODS: We retrospectively included all patients admitted to the ICU who received chemotherapy due to hematologic malignancy in 2012-2022. RESULTS: Of the 129 patients undergoing chemotherapy in the ICU, 50 (38.7 %) died during the ICU follow-up. The following conditions were significantly more common among nonsurvivors: presence of infection at the time of ICU admission (p < 0.001), the requirement for mechanical ventilation during ICU stay (p < 0.001), the need for noninvasive mechanical ventilation during ICU stay (p = 0.014), vasopressor support (p < 0.001), and sepsis (p < 0.001). Logistic regression analysis revealed that among laboratory parameters on ICU admission, lactate (p = 0.008), albumin (p = 0.022), C-reactive protein (p = 0.046), baseline sequential organ failure assessment (SOFA) score (p < 0.001), newly developed heart failure (p = 0.006), and the requirement for vasopressor agents during ICU stay (p < 0.001) significantly influenced the risk of mortality in the univariate analysis. The multivariate analysis revealed lactate levels (p = 0.047) on ICU admission as an independent predictor of mortality. CONCLUSION: The development of heart failure and lactate levels on admission were the main predictors of mortality. Additionally, higher SOFA scores revealed that illness severity was closely associated with mortality. Future studies should focus on strategies to further reduce these risks and achieve the best outcomes for these patients.

The assessment of health-related quality of life in patients with polycythemia vera.

Previous studies have shown that patients with polycythemia vera (PV) have poor quality of life (QoL). Similarly, it has been shown that survival is influenced by QoL. We aimed to evaluate QoL in 88 Turkish patients with PV. This cross-sectional study included cases diagnosed with PV between January 1995 and August 2019 who attended follow-up studies in the hematology department of a tertiary hospital in Türkiye between August 2019 and July 2020. Beginning in August 2019, subjects who approved study participation applied the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire (EORTC QLQ-C30) questionnaire during their routine follow-up-given that they met inclusion/exclusion criteria. Individuals with comorbidities or factors influencing QoL and those with secondary PV-related conditions were excluded. Recorded data included age, sex, history of bleeding, thrombosis, erythrocytosis, leukocytosis, thrombocytosis, obesity or splenomegaly, and cytogenetic mutation profiles such as JAK2, BCR and MPL. We also assessed whether they needed phlebotomy or erythrocyte suspensions. Data concerning comorbidities and medication use were obtained from medical records. The median age of patients was 52 (44-61) years. The majority of participants were male (67.05%). Global health status score was 75 (66.67-83.33). PV patients who had required phlebotomy demonstrated higher social functioning scores (P = .004) and lower scores for loss of appetite (P = .013) and financial difficulties (P = .020) than patients without phlebotomy. PV patients who had suffered from leukocytosis demonstrated lower physical functioning scores compared to those without leukocytosis (P = .001). Patients without JAK2 exon 14 mutations had better physical (P = .016) and cognitive functioning scores (P = .048). It was found that PV patients with splenomegaly demonstrated lower physical functioning (P = .019) and higher appetite loss scores (P = .005) than those without splenomegaly. Higher leucocyte counts were associated with decreased physical functioning and greater fatigue. In conclusion, we demonstrated deterioration of physical and emotional QoL in patients diagnosed with PV. Patients with PV require individualized, patient-specific and integrated approaches in order to minimize symptoms, improve QoL, and increase survival.