Definition - What does Hyperhomocysteinemia mean?

Hyperhomocysteinemia is a condition characterized by abnormally high levels of a naturally occurring amino acid called homocysteine (Hcy) in the blood. The condition leads to recurrent pregnancy loss and infertility. Hyperhomocysteinemia is a rare condition affecting about 1 in 50,000 to 1 in 200,000 people worldwide.

FertilitySmarts explains Hyperhomocysteinemia

Hcy is a sulfur-containing amino acid that is produced from another amino acid named methionine in the body. Hcy is then converted back to methionine with the help of vitamin B12, folate, and vitamin B6. Hence, hyperhomocysteinemia can occur due to a deficiency of either vitamin B12, vitamin B6, or folate, or a combination thereof. Sometimes, genetic mutations (alterations) of an enzyme that converts Hcy back to methionine can increase the Hcy levels. Kidney disease and alcoholism can also predispose a person to hyperhomocysteinemia.

Elevated homocysteine levels make a person prone to blood vessel damage and can trigger the formation of blood clots in either the veins or arteries. Formation of blood clots in arteries of the heart and brain causes heart attack and stroke respectively. These blood clots can also develop in the uterine arteries, cutting off the blood supply to the placenta, depriving the fetus of the oxygen and nutrients that it needs to survive. High homocysteine levels can, therefore, predispose a woman to recurrent miscarriages, premature separation of the placenta, and premature labor. Preeclampsia and birth defects are also some of the known complications of this condition.

Hyperhomocysteinemia also damages the kidneys and can even impair the cognitive function and memory in severe cases.

In individuals suspected of having hyperhomocysteinemia or women who have a history of unexplained recurrent pregnancy losses, the doctor will check the blood levels of Hcy, vitamin B12, and folate. On confirmation, treatment includes supplementing vitamin B12, B6, and folic acid. Aspirin and related medications are prescribed for the prevention of stroke and heart attack. For infertility, IVF is offered; however, repeated IVF failures are common in women suffering from hyperhomocysteinemia.

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