Increased liver enzymes due to gene mutations causing iron overload

Initially, the doctor suspected that Ms. Mai had viral hepatitis, but tests for hepatitis B, C, A, E were negative, and screening for autoimmune liver disease and metabolic disorders also showed no abnormalities. Prolonged high liver enzymes cause dark skin, Ms. Mai went to Tam Anh General Hospital for a check-up. BS.CKII Nguyen Thien Lu, Department of General Internal Medicine, based on a history of prolonged liver enzyme elevation accompanied by skin darkening and diabetes, suspected a group of iron metabolism disorders that can cause silent liver damage for many years.

Testing Ms. Mai’s body iron reserves showed a ferritin index of 8529 ng/ml while the normal for women is 15-150 ng/ml – indicating serious iron overload. Magnetic resonance imaging (MRI) of the liver and pancreas also showed severe iron overload. Gene mutation testing to find the root cause of increased liver enzymes found that Ms. Mai carried a homozygous mutation in the TFR2 gene. “This is a rare gene mutation that causes hereditary iron overload,” Dr. Lu said.

Hereditary hemochromatosis is a disorder that causes the body to absorb excessive iron from food, while not having an effective elimination mechanism. Excess iron is gradually deposited in organs such as the liver, heart, pancreas, joints, skin… causing damage that progresses over time. Particularly, mutations in the TFR2 gene often present late symptoms, causing many cases to be missed or misdiagnosed as common chronic liver diseases.

The treatment for hereditary iron overload is to periodically withdraw blood, similar to donating blood, to remove excess iron in the body. The patient’s blood is drawn together with monitoring of ferritin, hemoglobin, liver function, cardiovascular function, and blood sugar. Every 2-3 weeks, she has 250 ml of blood drawn after testing and assessing her physical condition to ensure her health conditions are met. After 4 months of treatment, liver enzymes returned to normal levels, ferritin levels decreased significantly, and she became less tired.

Hereditary iron overload disease is detected early, before organs are seriously damaged, with good treatment prognosis. Patients can live healthy lives if they comply with the routine blood withdrawal regimen and long-term monitoring. On the contrary, if detected late, when cirrhosis, heart failure or severe diabetes has already appeared, treatment is only to control complications.

Dr. Lu recommends that people with unexplained prolonged increases in liver enzymes, especially when accompanied by signs such as skin darkening or blood sugar disorders, should see a doctor to be screened for iron metabolism disorders. Timely detection not only helps with effective treatment but also prevents complications such as cirrhosis and heart failure due to prolonged iron overload.