FACTOR V LEIDEN HETEROZYGOUS MUTATION AND HYPERHOMOCYSTEINEMIA PRESENTING WITH VASCULAR REJECTION AND GRAFT INFARCTION IN KIDNEY ALLOGRAFT RECIPIENT: A CASE REPORT

Introduction:

We are presenting a case report of a kidney allograft recipient, with prior history of unprovoked deep vein thrombosis (DVT), who presented with haematuria and graft dysfunction. On evaluation he was found to have acute T cell mediated rejection (TCMR) followed by acute cortical necrosis (ACN). He was investigated for causes of ACN and was found to have heterozygous Factor v leiden (FVL) mutation and hyperhomocyteinemia. We are presenting this case to emphasize upon the importance of history taking for venous thrombosis (VT), and to investigate for the possible causes of unprovoked DVT. Another pecularity of case is that it usually presents as venous thrombosis, arterial thrombosis as in this case is rare in FVL mutation.

Methods:

This 40-year male, was diagnosed to have end stage kidney disease in year 2020. He has history of femoral catheterisation and Rt lower limb oedema which resolved spontaneously. He underwent kidney transplant in 2022. In Oct 2023, he presented with macroscopic haematuria with graft dysfunction. After basic investigations, graft renal biopsy was done which  revealed  Acute TCMR 2A

He was treated with Methylprednisolone pulse and rabbit anti thymocyte globulin (r-ATG). After initial response to therapy, his creatinine started increasing again. Graft biopsy revealed acute cortical necrosis with residual inflammation of TCMR.   Doppler graft kidney and MRI  revealed multiple cortical wedge-shaped infarcts (Fig.1.). 

Further work up was negative for ANA, APLA and complements levels were normal. Thrombophilia work up revealed hyperhomocsyteinemia 31.3 (1-5) micromol/L, and factor v Leiden heterozygous mutation. Prothrombin gene mutation (PGM), MTHFR gene mutation were negative and Protein C and Protein S levels were normal. He was manged with oral anticoagulation (Apixaban) and folate. He stopped anticoagulation after a  month and presented with recurrent DVT right lower limb and pulmonary thromboembolism. 

Results:

Discussion

In their heterozygous forms, FVL or PGM are associated with a modest increase in venous thromboembolism (VTE) risk. FVL is the most common cause of inherited thrombophilia. It is an AD condition with incomplete penetrance. In this mutant factor V becomes resistant to inhibition by protein C. It increases risk of Venous thrombosis to 7-fold (heterozygous), 20-fold (Homozygous), arterial thrombus is however rare. Several studies reported an association between mild hyperhomocysteinemia and coronary artery disease, stroke, and peripheral arterial disease.  

Conclusions:

Conclusion

In our patient, his thrombophilia profile led to vascular rejection and ACN. Any patient with history of DVT/PTE should be properly screened before transplant as thrombophilia can lead to renal vein thrombosis, microvascular thrombosis and precipitate rejection, and this can be prevented by post transplant anticoagulation.

I have no potential conflict of interest to disclose.

I did not use generative AI and AI-assisted technologies in the writing process.