JAK2V617F Mutation in Patient with Splanchnic Vein Thrombosis

Area of Science:

• Hematology
• Vascular Medicine
• Genetics

Background:

• Splanchnic vein thrombosis (SVT) is a rare but severe form of venous thrombosis, frequently associated with myeloproliferative neoplasms (MPNs).
• The prevalence of the JAK2V617F mutation in SVT patients varies significantly across studies, particularly between Western and Indian populations.
• Understanding the genetic and thrombophilic risk factors in Indian SVT patients is crucial for accurate diagnosis and management.

Purpose of the Study:

• To investigate the frequency of the JAK2V617F mutation in North Indian patients with splanchnic vein thrombosis.
• To identify other common thrombophilic risk factors, both inherited and acquired, in this patient cohort.
• To compare the prevalence of JAK2V617F mutation with other thrombophilia markers in Indian SVT patients.

Main Methods:

• A prospective case-control study involving 52 SVT cases and 40 controls.
• Screening for JAK2V617F mutation using molecular methods.
• Assessment of routine thrombophilic risk factors, including Factor V Leiden (FVL) mutation, Protein C (PC) and Protein S (PS) deficiency, and Antiphospholipid antibodies (APA).

Main Results:

• The JAK2V617F mutation was detected in 3.8% of SVT patients (2 out of 52) and in none of the controls.
• Other thrombophilia markers were more prevalent, identified in 18% of cases (FVL mutation in 2, PC deficiency in 3, PS deficiency in 1, and APA in 3).
• Eight cases exhibited deranged risk factors (5 inherited, 3 acquired), though repeat testing was not feasible due to loss to follow-up.

Conclusions:

• The frequency of JAK2V617F mutation in North Indian SVT patients is lower than previously reported in some Indian studies.
• Inherited and acquired thrombophilia markers are more common in this cohort and should be routinely screened for.
• Comprehensive screening for diverse thrombophilia markers is essential for managing SVT patients in this region.