Patient Information: Hemolysis, Elevated Liver enzymes, and Low Platelet count (HELLP) syndrome is one of the common and important complications of pregnancy. Also, Acute Fatty Acid Liver of Pregnancy (AFLP) is a very severe and less common complication in pregnancy with high mortality rate. In Fatty Acids Oxidation Defects (FAODs), patients cannot metabolize fatty acids. Asymptomatic carrier mothers are at higher risk for one of these diseases. A 33-year-old pregnant woman at the 22nd week of pregnancy with a 2-day history of abdominal pain, headache, blurred vision, and vomiting was referred to the hospital emergency room and hospitalized there. The patient was an agitated at the time of admission. She was worked up with the impairment of sensation, jaundice, high blood pressure, and proteinuria with the suspicion of HELLP syndrome. The patient had high LDH, high SGOT levels, and very low platelets, and despite the onset of medical and preventive measures, the embryo was aborted 24 hours later. In later maternal assessments, a genetic-metabolic disorder was diagnosed from the group of oxidation disorders of fatty acids.
Conclusion: FAODs in mitochondria are a group of genetic and metabolic diseases that are transmitted through the autosomal recessive inheritance pattern. These disorders in mothers who are heterozygous for this disease have important side effects such as severe preeclampsia, AFLP, and HELLP syndrome. These diseases are relatively common and should be taken into account in pregnancies at risk.
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