# ABCB1-Mediated Colchicine Transport and Its Implications in Familial Mediterranean Fever: A Systematic Review

## TL;DR

This review explores how variations in the ABCB1 gene affect colchicine transport and treatment outcomes in Familial Mediterranean Fever.

## Contribution

The paper systematically reviews the role of ABCB1 gene polymorphisms in colchicine response and resistance in FMF patients.

## Key findings

- ABCB1 gene polymorphisms influence colchicine transport and treatment outcomes in FMF.
- Variants in ABCB1 may lead to drug resistance or altered toxicity in FMF patients.
- Understanding ABCB1 variants could improve personalized treatment strategies for FMF.

## Abstract

Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder characterized by recurrent fevers and inflammation of the serous membranes in the abdomen, lungs, and joints. Currently, the standard treatment of FMF includes colchicine, which is an alkaloid, derived from Colchicum autumnale. Colchicine’s efficacy in FMF is well-established as it is used both to prevent acute attacks and reduce the risk of long-term complications. However, despite these available treatments, 5–10% of patients exhibit resistance to the drug. It has been demonstrated that polymorphisms in several genes involved in inflammation can influence treatment outcomes and the risk of FMF complications like amyloidosis. Among them, some research focused on polymorphism affecting adenosine triphosphate (ATP)-binding cassette sub-family B member 1 (ABCB1) gene encoding for P-glycoprotein. P-glycoprotein is considered a key transporter protein as it regulates the absorption, distribution, and excretion of several drugs, including colchicine. In diseases like FMF, ABCB1 polymorphisms have been shown to affect the response to colchicine, potentially leading to treatment resistance or altered toxicity. Based on this evidence, this systematic review aims to analyze available evidence on ABCB1-mediated colchicine transport and its clinical implications in FMF, showing how relevant ABCB1 variants are in response to therapy.