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How Severe Is Hyperhomocysteinemia?
Question: I have mthfr. I'm heterozygote for 677 heterozygote for 1298 and pai-1.I was wondering how dangerous my clotting factor is and also should I be on any type of medication for these factors
Brief Answer:
Severity depends only on blood homocysteine levels
Detailed Answer:
Hi Madam,
I have read your query and understand your concern.
MTHFR gene mutation is a very rare scenario.
This is medically termed as Hyperhomocysteinemia which predisposes to blood clots causing premature stroke and heart attacks in the affected patients that is before the age of 35y.
This gene regulates the production of Homocysteine in the body.Heterozygous state implies mutation in only one of the 2 MTHFR genes that we inherit one each from our parent.
To have any detrimental effect,the mutations must be present in both copies of the genes ie;homozygous state.
Having only mutation in one copy of gene-heterozygous either 677 Or 1298 Or PAI1,is from medical perspective clinically irrelevant.
Even when all 3 mutations are present,not all people will have elevated levels of Homocysteine.
Although these genetic defects impair the regulation of homocysteine,adequate levels of folate will cancel the defect.
Regardless of whether you have mutations on one or both genes,treatment is essentially same and depends only the blood levels of Homocysteine.
Treatment is needed only in cases of elevated blood homocysteine.
Incase of normal levels of homocysteine in the blood,no treatment is required and the patient can lead an absolutely normal life.
Treatment is in the form of vit B12,folic acid and pyridoxine supplementation.
Thank you.
Severity depends only on blood homocysteine levels
Detailed Answer:
Hi Madam,
I have read your query and understand your concern.
MTHFR gene mutation is a very rare scenario.
This is medically termed as Hyperhomocysteinemia which predisposes to blood clots causing premature stroke and heart attacks in the affected patients that is before the age of 35y.
This gene regulates the production of Homocysteine in the body.Heterozygous state implies mutation in only one of the 2 MTHFR genes that we inherit one each from our parent.
To have any detrimental effect,the mutations must be present in both copies of the genes ie;homozygous state.
Having only mutation in one copy of gene-heterozygous either 677 Or 1298 Or PAI1,is from medical perspective clinically irrelevant.
Even when all 3 mutations are present,not all people will have elevated levels of Homocysteine.
Although these genetic defects impair the regulation of homocysteine,adequate levels of folate will cancel the defect.
Regardless of whether you have mutations on one or both genes,treatment is essentially same and depends only the blood levels of Homocysteine.
Treatment is needed only in cases of elevated blood homocysteine.
Incase of normal levels of homocysteine in the blood,no treatment is required and the patient can lead an absolutely normal life.
Treatment is in the form of vit B12,folic acid and pyridoxine supplementation.
Thank you.
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Vinay Bhardwaj
Answered by
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