Methylenetetrahydrofolate Reductase (MTHFR) C677T Mutation and Complete Hemolysis, Elevated Liver Enzymes, and Low Platelets (HELLP) Syndrome With Rare Complications: A Case Report

A severe obstetric condition presenting with hemolysis and elevated liver enzymes, along with a low platelet count, is defined by the abbreviation HELLP, presenting hazardous complications to both mother and fetus. HELLP can be diagnosed in the antepartum period. For accurate diagnosis, biomarkers play an important role, as blood pressure is not directly linked to the severity of the disease, even though it is described as a hypertensive disorder. We detail the case of a 30-year-old primigravida from a tribal region in Jammu and Kashmir, India, presenting at 24 weeks of gestation. Although she did not have hypertension, she developed full HELLP syndrome, which included hemolysis, elevated liver enzymes, and low platelet count. Her clinical course was notably complicated by multiterritorial cerebral infarctions and bilateral exudative retinal detachment. Further tests showed normal folate and homocysteine levels but also confirmed the presence of a heterozygous methylenetetrahydrofolate reductase (MTHFR) C677T mutation. There was healing of the retinal detachment once pregnancy was terminated, thereby eliminating the need for ophthalmological surgery. Therefore, this case highlights the need to further study the contribution of the MTHFR polymorphism in persons suffering from HELLP syndrome.