Can a Methylenetetrahydrofolate Reductase (MTHFR) mutation cause elevated Liver Function Tests (LFTs)?

From the Guidelines

MTHFR mutations typically do not directly cause elevated liver function tests (LFTs). MTHFR (methylenetetrahydrofolate reductase) gene mutations affect the body's ability to process folate and can lead to elevated homocysteine levels, but they don't generally impact liver enzyme production or function. Elevated LFTs are more commonly caused by liver inflammation, medication side effects, alcohol consumption, viral hepatitis, fatty liver disease, or other liver disorders.

Key Points to Consider

• If you're experiencing elevated LFTs and have an MTHFR mutation, it's essential to look for other potential causes of the liver abnormalities.
• Some individuals with MTHFR mutations may benefit from supplementation with methylated forms of folate (like methylfolate) and B12 (methylcobalamin) to support proper methylation pathways, but this won't directly affect liver enzymes.
• According to the most recent guidelines, such as those from the American College of Radiology 1 and the Journal of Clinical Oncology 1, monitoring liver function tests is crucial in patients with various conditions, but MTHFR mutations are not directly linked to elevated LFTs.
• The British Thoracic Society guidelines 1 also discuss the importance of monitoring liver function tests in patients with certain conditions, but they do not establish a direct link between MTHFR mutations and elevated LFTs.
• The Arthritis and Rheumatology journal 1 provides recommendations for monitoring liver function tests in patients with juvenile idiopathic arthritis, but it does not mention MTHFR mutations as a cause of elevated LFTs. If you have both an MTHFR mutation and elevated LFTs, consult with a healthcare provider who can perform appropriate testing to determine the actual cause of your liver enzyme elevation.

From the Research

MTHFR Mutation and Elevated Liver Function Tests (LFTs)

• There is no direct evidence in the provided studies to suggest that MTHFR mutation causes elevated LFTs 2, 3, 4, 5, 6.
• The studies focus on the relationship between MTHFR mutation, homocysteine levels, and various health conditions such as recurrent pregnancy loss, renal failure, and cardiovascular disease.
• However, it is known that elevated homocysteine levels, which can be associated with MTHFR mutation, may be related to liver disease and elevated LFTs, but this is not explicitly stated in the provided studies.

Relationship Between MTHFR Mutation and Homocysteine Levels

• The MTHFR C677T polymorphism is associated with elevated serum total homocysteine (tHcy) levels 2, 3, 4, 5, 6.
• Folate and vitamin B12 deficiencies are also significant contributors to elevated tHcy levels 2, 3, 4, 5.
• Supplementation with folic acid, vitamins B6 and B12 can help lower tHcy levels in individuals with MTHFR mutations 3, 5.

Health Conditions Associated with MTHFR Mutation

• MTHFR mutation is associated with an increased risk of recurrent pregnancy loss 3.
• MTHFR mutation is also associated with cardiovascular disease and hyperhomocysteinemia 6.
• In renal transplant recipients, MTHFR polymorphism seems to have a greater effect on Hcy concentration than vitamin intake 5.