Abstracts of the 2022 Annual Meeting of the ALEH
More infoHereditary hemochromatosis (HH) is a polygenic disease characterized by elevated transferrin saturation (TfS) due to progressive and systemic iron overload. T2*-weighted magnetic resonance imaging (T2*MRI) is useful for assessing hepatic and splenic iron overload (SpIO). Until now, SpIO in patients with HH has been controversial. This study aimed to evaluate splenic iron overload in HH patients.
Materials and MethodsA Retrospective analysis was made in 113 patients studied with T2*MRI 1.5 Tesla, with phenotypic and liver histologic criteria of HH, without other causes of iron overload. All of them had a hepatic iron overload. In order to evaluate differences between patients with SpIO (Group 1 - G1) or without (Group 2 - G2), age, sex, serum ferritin (SF), serum iron (SI), serum transferrin (Tf), TfS, HFE gen mutations, hepatomegaly, libido loss (LIB), cirrhosis by liver histology, oral glucose tolerance test (OGTT), diabetes (DM); cutaneous (CI), joints (JI) and cardiac involvement (CVI) were compared between both groups. Statistical analysis: median with IQ range 25-75% and Mann-Whitney test. P-value <0.05 was considered significant.
ResultsBy T2*MRI, SpIO (G1) was observed in 53 cases (46.9%) and not detected (G2) in 60 (53.1%). Median age: G1, 47 years (39-60) vs. G2: 43 (30.5-53) (p=0.074); HFE mutations, G1: 20.75% vs. G2: 11.67% (p=0.14); SF>1000 ng/ml, G1: 35.85% vs. G2: 18.33% (p=0.029); hepatomegaly, G1: 67.92% vs. G2: 46.67% (p=0.018) and AI, G1: 33.96% vs. G2: 13.33% (p=0.009). Statistical differences were not observed when comparing sex, cirrhosis, SI, Tf, TfS, OGTT, DM, CI, CVI and LIB.
ConclusionsThis study shows that nearly half of the patients with HH have splenic iron accumulation. This finding is more frequent in those with SF >1000 ng/dl, hepatomegaly and joint involvement. This preliminary data support to continue studying other polymorphisms that could be involved in HH and the impact of splenic iron overload on the disease.
