A clinical case of liver iron overload in a child with liver cavernoma and extrahepatic portal hypertension

Iron overload syndrome is a pathological condition that occurs as a result of congenital disorders of its regulation, as well as due to repeated hemotransfusions, hemolytic anemia or excessive intake of iron preparations. Accurate data on the prevalence of secondary liver iron overload are not available in the literature. Liver biopsy remains the gold standard for assessing iron overload, however, non-invasive methods, in particular magnetic resonance relaxometry, also allow for an accurate quantitative assessment of the body’s iron overload. In secondary iron overload, chelation therapy is the only therapeutic option to prevent excessive accumulation of iron in tissues, which reduces complications and improves patient survival. The presented clinical case in a 5-year-old child is interesting for a combination of factors contributing to the formation of liver iron overload, as well as the rapid development of hyperferritinemia. The boy has a history of prolonged neonatal jaundice. At 6 months old, the child was first diagnosed with grade 2 iron deficiency anemia, splenomegaly and liver cavernoma were detected during abdominal ultrasound, and therefore the child was referred for consultation to a surgeon. At the age of 1.5 years old, the boy underwent surgical treatment — the formation of splenic-renal anastomosis due to the danger of bleeding from dilated veins of the esophagus. However, in the postoperative period, the failure of the anastomosis was noted, and therefore an H-shaped mesenteric-caval anastomosis was performed. At 2 years old of age, a planned examination revealed an increase in ferritin to 1149.2 ng/ml. During the molecular genetic study, hereditary hemochromatosis was excluded. After the start of chelation therapy, there was a decrease in ferritin levels in dynamics and with its normalization in October 2023, therapy was canceled. The boy is currently under the supervision of a hematologist, a pediatric surgeon and a pediatrician. The clinical case demonstrates the peculiarities of the course of liver iron overload in a child with liver cavernoma and extrahepatic portal hypertension, which required a personalized approach to diagnosis and treatment.