Background: Hereditary hemorrhagic telangiectasia (HHT) is a disease characterized by arteriovenous malformations and telangiectases, in which the endothelium and immune system play a role in the pathophysiology. Therefore, treatments with antiangiogenic properties which are also regarded as immunomodulators were demonstrated to play an important role in treatment. This systematic review aimed to gather the accumulated information of the use of thalidomide and its analogs in the treatment of HHT. Methods: In this systematic review, publications that were published up to March 2024 and met the inclusion criteria were compiled using the keywords ‘thalidomide’, ‘lenalidomide’, ‘pomalidomide’, ‘immunomodulatory drugs’ and ‘HHT’ in Medline and Scholars databases. Results: A total of 53 articles were evaluated and 15 were included in the study. Thalidomide was the predominant used agent and was observed to be used in patients with ages ranging from 37 to 77 years, with doses ranging from 50 to 200 mg daily, and the mean follow-up period was observed to be 6–60 months. Assessments regarding efficacy were based on the epistaxis severity score (ESS), hemoglobin level, and transfusion independence. While thalidomide showed significant efficacy, it also had an adverse event rate of any severity of up to 85% of patients. Use of lenalidomide to control bleeding in HHT was reported in a single case report, while the use of pomalidomide was observed to be investigated in Phase 1 and Phase 2 studies in patients aged 48 to 70 years, with doses ranging from 1 to 5 mg daily for 6–24 months. This treatment was reported to provide significant improvement in hemoglobin levels and ESS. Adverse events of any severity were observed at a frequency of 60–66%. Conclusions: Antiangiogenic agents such as thalidomide, lenalidomide, and pomalidomide may be effective in managing HHT. However, further studies are needed to optimize the timing, dose, and sequence.

Aims JAK2V617F (JAK2), calreticulin (CALR) and MPL515L/K (MPL) mutations are important in essential thrombocythemia (ET) and may be associated with various clinical consequences of the disease. This study aimed to compare the clinical and haematological parameters of ET patients regarding the mentioned mutations and the role of plateletcrit (PCT). Methods Seventy patients who were diagnosed with ET between 2005 and 2017 in a single centre were included in this descriptive study. The initial symptoms and clinical findings were retrieved from the electronic database. JAK2 gene V617F mutations, MPL gene exon 10 mutations and CALR gene exon 9 DNA sequence analyses were performed. Forty-one healthy volunteers were included to perform ROC curve analysis for interpreting PCT value. Results The distributions of patients according to the mutations were as follows: Thirty-seven (52.9%) patients were JAK2-positive, 15 (21.4%) were CALR-positive, 2 (2.8%) patients were positive for both CALR and JAK2, and 1 (1.4%) was only MPL-positive. Fifteen (21.4%) patients were triple-negative. The ET patients with JAK2 mutation showed a higher level of haemoglobin at the time of diagnosis. The ET patients with CALR mutation presented with higher platelet and LDH levels (P = .002 and P = .001, respectively). The PCT level was higher in the CALR-positive group when compared to the others (P = .026). A sensitivity value of 97.6% and specificity value of 98.6% were determined regarding PCT% at a cut-off value of 0.37 in ET patients. In CALR-positive patients, the sensitivity and specificity values were 100% for the PCT at a cut-off value of 0.42%. Conclusion We determined that the platelet count and blood LDH level was high in the ET patient group with CALR mutation. Besides, we found that the blood haemoglobin level was higher in the ET patient group with JAK2 mutation. Additionally, the PCT level was higher in the CALR group when compared to the other patient groups.

Bruton's tyrosine kinase (BTK) inhibition in cardiac tissue causes inhibition of the PI3K-AKT signaling pathway, which is responsible for protecting cardiac tissue during stress. Therefore, there is an increase in the risk of arrhythmia. This risk can be predicted with the Age-Creatinine-Ejection Fraction (ACEF) score, which is a simple scoring system that can be calculated from age, creatinine and ejection fraction components. Patients diagnosed with Chronic Lymphocytic Leukemia (CLL) and receiving Ibrutinib treatment for at least 1 year were evaluated with echocardiography and holter electrocardiography, and the results were compared with the control group of CLL patients who did not receive treatment. When arrhythmia development of the patients was evaluated, no statistically significant difference was found between the control and Ibrutinib groups in terms of other types of arrhythmias exact Paroxismal Atrial Fibrillation (PAF). PAF was found to be 8% versus 22% (p-value: 0.042) in the Ibrutinib non-users and users groups. In patients receiving ibrutinib, ACEF score of >1.21 predicted the development of PAF with 77% sensitivity and 75% specificity (Receiver Operating Characteristic [ROC] area under curve: 0.830, 95% CI: 0.698-0.962, P<0.001). The ACEF risk score can be used as a risk score that predicts the development of PAF in patients diagnosed with CLL and planned to start ibrutinib.