People who inherit a defective gene for homocysteine metabolism tend to have elevated homocysteine blood levels. The piece of the puzzle we do not have is whether treating this condition in adults will prevent heart disease several years later. The study simply has not been done. Homocysteinemia can be diagnosed by either fasting blood homocysteine values or a blood level after ingesting a dose of methionine. Heart disease is often linked to disorders not detected on routine blood tests.
Family members are at risk to inherit the traits and increased heart disease risk.
Without proper treatment, heart disease is progressive . With proper treatment reduced progression and some regression is possible. Despite significant LDLC reduction, many patients continue to worsen . LDL pattern B patients respond better than pattern A. 7. Treatment needs to be custom fitted to the patient's individual metabolic problems.