# A 27-Year-Old Female With JAK2 Mutation: A Case of Budd-Chiari Syndrome Secondary to Prolonged Oral Contraceptive Pill Use

## TL;DR

A 27-year-old woman with a JAK2 mutation and a history of blood clotting issues developed severe liver vein blockage after using birth control pills, highlighting the risks of such medications in patients with genetic clotting disorders.

## Contribution

This case highlights the thrombotic risks of OCPs in patients with JAK2 mutations and emphasizes the need for cautious medication management.

## Key findings

- The patient developed Budd-Chiari syndrome due to thrombosis in multiple hepatic veins.
- A transjugular intrahepatic portosystemic shunt improved venous flow after failed initial attempts.
- The case underscores the importance of avoiding estrogen-containing OCPs in patients with JAK2 mutations.

## Abstract

Individuals with Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) such as polycythemia vera and essential thrombocythemia (ET) demonstrate an increased thrombotic risk associated with JAK2 mutations. Physicians must take heed when treating these patients, to mitigate this pro-thrombotic state as much as possible. Failure to do so, or exacerbating the state, can lead to dire consequences. We present the case of a 27-year-old female with a history of ulcerative colitis (UC) and ET, currently taking estrogen-containing oral contraceptive pills (OCPs). She presented to the emergency department with rapid weight gain, jaundice, nausea, and diarrhea and was found to have obstructive jaundice and thrombotic burden that extended into the portal, mesenteric, splenic, and hepatic veins. On the second attempt, a successful transjugular intrahepatic portosystemic shunt procedure was performed, resulting in improved venous flow. This case underscores the importance of cautious medication use, especially OCPs, in patients with hypercoagulable states due to JAK2 mutations, for example, the V617F mutation in JAK2. It emphasizes the need for vigilant monitoring, individualized management, and a multidisciplinary approach to mitigate thrombotic complications. Increased awareness and continued research are crucial for optimizing treatment strategies for patients with MPNs and associated genetic mutations.