PB0915 - Association Between MEFV Gene Mutation and Thrombotic Events: Insights from a Cohort of 39 Patients Revealing a Prevalence of Hyperhomocysteinemia

Monday, June 24, 2024

13:45 – 14:45 ICT

Room: Exhibition Hall

Co-Author(s)

CS

Clodet Stepanians

Hematologist
Hemophilia and Thrombosis Center, Yeolyan Hematology and Oncology Center, Yerevan, Armenia
Yerevan, Yerevan, Armenia

Presenting Author(s)

Nelli S. Sargsyan

Hematologist
Hemophilia and Thrombosis Center, Yeolyan Hematology and Oncology Center, Yerevan, Armenia
Yerevan, Yerevan, Armenia

Co-Author(s)

SS

Sajee Siva

Student
Yerevan State Medical University
Yerevan, Yerevan, Armenia
Liana G. Hambardzumyan, Master's degree

Hematologist
Hemophilia and Thrombosis Center, Yeolyan Hematology and Oncology Center, Yerevan, Armenia
Yerevan, Yerevan, Armenia
AS

Arakelyan Samvel

hematologist
Armenian Hemophilia and Trombosis center
Yerevan, Yerevan, Armenia
LP

Lilit S. Petrosyan

hematologist
Hemophilia and Thrombosis Center, Yeolyan Hematology and Oncology Center, Yerevan, Armenia
Yerevan, Yerevan, Armenia
AM

Alisa Movsisyan

Hematologist
Yeolyan Hematology and Oncology Center
Yerevan, Yerevan, Armenia
Heghine S. Khachatryan, MD, PhD

Head of Hemophilia and Thrombosis Center
Hemophilia and Thrombosis Center, Yeolyan Hematology and Oncology Center, Yerevan Armenia YSMU, department of Hematology and Pediatric oncology
Yerevan, Yerevan, Armenia

Background: Familial Mediterranean Fever (FMF), traditionally associated with recurrent fevers, may harbor broader implications. Our study delves into revealing a potential link to thrombotic events, urging a reevaluation of its systemic impact.

Aims: This study aims to investigate the prevalence of thrombotic events and hyperhomocysteinemia in individuals with familial Mediterranean fever (FMF) mutations, shedding light on potential non-genetic factors contributing to a prothrombotic state in this population.

Methods: We conducted a retrospective analysis involving 39 patients referred to the Hemophilia and Thrombosis Center of Armenia for hematologist consultation. All participants were confirmed to have MEFV gene mutations (specific homozygote/heterozygote information unavailable). Comprehensive clinical and laboratory data were collected from patient records to assess the prevalence of thrombotic events and hyperhomocysteinemia within this cohort.

Results: Out of the 39 patients (97.4% female, 2.6% male) with familial Mediterranean fever (MEFV) mutations, aged 18-65 (mean age 41.5 years), only two individuals experienced thrombotic events. One had venous thrombosis (DVT), and the other had arterial thrombosis. Interestingly, none of these thrombotic cases were associated with hereditary thrombophilia. Among all patients, 3 had FII heterozygous mutation, 2 had FV heterozygous mutation, and 1 had a FII, FV heterozygous mutation, yet none of them experienced thrombotic events. Among the 39 patients, 8 patients (20.5%) exhibited hyperhomocysteinemia. Notably, 6 out of these 8 patients with elevated homocysteine levels showed mutations in folate metabolism genes, including MTHFR C677T and A1298C, MTRR, and MTR.

Conclusion(s): Our study reveals a modest incidence of thrombotic events and a notable prevalence of hyperhomocysteinemia in patients with MEFV mutations. While the observed incidences are modest, the absence of hereditary thrombophilia mutations in those with thrombotic events raises intriguing questions. Further research is needed to comprehensively explore the interplay of genetic and non-genetic factors influencing thrombotic risk in FMF patients, guiding future interventions and personalized care strategies.