[Primary myelofibrosis with Factor V Leiden diagnosed following portal vein thrombosis]

Area of Science:

• Hematology
• Genetics
• Oncology

Background:

• Primary myelofibrosis (PMF) is a myeloproliferative neoplasm linked to thrombosis, often via JAK2 V617F mutation.
• Factor V Leiden (FVL) mutation is a common hereditary thrombophilia in Caucasians but rare in Japan.
• Portal hypertension and esophageal varices can be presenting symptoms of PMF.

Purpose of the Study:

• To report a rare case of PMF with concurrent FVL mutation in an American patient in Japan.
• To illustrate the diagnostic and therapeutic challenges of this rare comorbidity.
• To emphasize the importance of thorough thrombophilia screening in specific patient populations.

Main Methods:

• Case report of an American patient diagnosed with PMF presenting with portal hypertension.
• Genetic testing confirmed the JAK2 V617F mutation and FVL carrier status.
• Treatment involved ruxolitinib for PMF symptoms and perioperative management for surgery.

Main Results:

• Ruxolitinib treatment led to significant improvement in splenomegaly and portal hypertension symptoms.
• The patient underwent successful fracture surgery with effective thrombosis risk management.
• This case highlights a rare co-occurrence of PMF and FVL in Japan.

Conclusions:

• Comprehensive evaluation for MPN driver mutations and thrombophilic factors is crucial for atypical thrombosis, especially in Caucasian patients.
• Early diagnosis and appropriate management, including targeted therapies like ruxolitinib, can improve outcomes in PMF.
• This case underscores the need for increased awareness of rare genetic thrombophilias in diverse patient populations presenting with myeloproliferative neoplasms.