Purpose of review: Hemochromatosis is a common autosomal recessive condition characterized by increased iron absorption and tissue deposition. Recognition of this condition is important because phlebotomy can be life saving. This review examines recent studies of articular manifestations in hemochromatosis and the frequency of hemochromatosis genes in the general population and in selected patients with various types of arthritis.
Recent findings: Genetic mutations in the HFE gene are present in most patients with hemochromatosis. Several studies have shown a higher frequency of homozygous or heterozygous HFE mutations in individuals with various types of arthritis compared with unselected populations. Although important, the lack of characterization of arthritis in the controls of these studies limits their impact. One recent study compared arthritis symptoms in individuals with HFE mutations, newly identified through a large screening program, with individuals lacking such mutations from the same population. Individuals with hemochromatosis genotypes reported a higher frequency of some arthritis symptoms than did controls. Although these differences were not statistically significant, the low number of individuals with hemochromatosis genotypes limited the statistical power of this study.
Summary: Arthritis symptoms are common in individuals with hemochromatosis and can have a significant impact on their quality of life. Although the genetic defect associated with hemochromatosis is common in whites, the frequency with which these genotypes cause clinical disease remains unclear. More detailed study of arthritis symptoms and signs over time in individuals with and without mutations in the HFE gene is necessary to determine the contribution of HFE genes to arthritis in the population.