Initially, doctors suspected Mrs. Mai had viral hepatitis, but tests for hepatitis B, C, A, and E viruses were negative. Screenings for autoimmune liver disease and metabolic disorders also showed no abnormalities. Prolonged elevated liver enzymes caused her skin to darken, prompting Mrs. Mai to seek examination at Tam Anh General Hospital. Doctor Nguyen Thien Lu, a level II specialist in the Department of General Internal Medicine, suspected a metabolic iron disorder based on her history of persistent elevated liver enzymes, darkened skin, and diabetes. These disorders can silently damage the liver over many years.

Tests on Mrs. Mai's body iron stores revealed a ferritin index of 8,529 ng/ml, significantly higher than the normal range for women of 15-150 ng/ml, indicating severe iron overload. Magnetic resonance imaging (MRI) scans of her liver and pancreas also showed severe iron accumulation. Genetic testing, conducted to find the root cause of the elevated liver enzymes, identified that Mrs. Mai carried a homozygous mutation in the TFR2 gene. "This is a rare type of gene mutation that causes hereditary hemochromatosis," Doctor Lu stated.

Doctor Lu advises Mrs. Mai on treatment methods. Photo: Tam Anh General Hospital

Hereditary hemochromatosis is a disorder where the body absorbs excessive iron from food without an effective excretion mechanism. This surplus iron gradually accumulates in organs such as the liver, heart, pancreas, joints, and skin, causing progressive damage over time. The TFR2 gene mutation, in particular, often presents symptoms late, leading to many cases being overlooked or misdiagnosed as common chronic liver diseases.

The treatment for hereditary hemochromatosis involves regular blood withdrawal, similar to blood donation, to remove excess iron from the body. Patients undergo blood draws while monitoring ferritin levels, hemoglobin, and liver, cardiovascular, and blood sugar functions. Every two to three weeks, Mrs. Mai had 250 ml of blood withdrawn after tests confirmed her health condition met the requirements. After four months of treatment, her liver enzymes returned to normal levels, ferritin concentration significantly decreased, and she felt less fatigued.

When hereditary hemochromatosis is detected early, before severe organ damage occurs, the treatment prognosis is good. Patients can lead healthy lives if they adhere to the regular blood withdrawal regimen and long-term monitoring. Conversely, if detected late, when cirrhosis, heart failure, or severe diabetes have already appeared, treatment primarily focuses on managing complications.

Doctor Lu advises individuals with unexplained prolonged elevated liver enzymes, especially when accompanied by signs such as darkened skin or blood sugar disorders, to seek medical examination for iron metabolism disorder screening. Timely detection not only aids effective treatment but also prevents complications such as cirrhosis and heart failure caused by chronic iron overload.

Thanh Ba