Role of Hyperhomocysteinemia causation of Foetal loss

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All about Hyperhomocysteinemia (elevated plasma homocysteine)

Role of Hyperhomocysteinemia :-Hyperhomocysteinemia can be inherited or acquired . Defects in either the trans- suplhuration pathway or remethylation pathway will lead to increased blood concentrations of homocysteine known as hyperhomocysteinemia. The thermolabiles C677T variant of the gene for MTHFR has been associated with a tendency to mild to moderate hyperhomocysteinemia especially in the presence of folic acid deficiency .

It is the phenotype of hyperhomocysteinemia that is associated with a high frequency of early onset preeclampsia rather than any associated genotype e.g. MTHFR . The severe form results from extremely rare homozygous deficiencies in either cystathionine B- synthase or Methylene tetrahydrofolate reductase enzymes.

Blood homocysteine levels are:

Severe;>100 mol/L

Moderate:25-100 mol/L

Mild: 16-24 mol/L

Incidence : Homozygosity for the 667C- T MTHFR thermolabile mutant is present in up to 11% of ethnie European populations and is the leading cause of mild and moderate hyperhomocysteinemia.

Associated Risks are many like . Early onset pre-eclampsia placental abruption,. Fetal neural tube defects ,. Stillbirth

. Intrauterine growth restriction ,.Vascular disease , e.g. coronary artery disease, .Recurrent VTE ,.fetal loss

Altogether thrombophilias may contribute to pregnancy complications including; . Repeated miscarriage usually occurring after the tenth week of pregnancy,. Stillbirth in the second or third trimesters,. Placental abruption, .Pre- eclampsia, .Poor fetal growth ,.Premature delivery .

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