Hereditary hemochromatosis: a neglected diagnosis in orthopedics

Hereditary hemochromatosis (HH) is a not uncommon auto-somal recessive and potentially life-threatening disease. The hemochromatosis gene was identified by Feder et al. in 1996. About 1 in 200 individuals is estimated to be homozygous for the most common mutation—C282Y/C282Y. In the classical form of the disease, cysteine is substituted by tyrosine at amino acid 282 in both alleles. The so-called compound het-erozygoty is less common (representing about 10% of cases) but is also compatible with HH. Here, histidine is substituted by aspartic acid at amino acid 63 in one allele and cysteine by tyrosine at amino acid 282 in the other (C282Y/H63D). Due to increased intestinal absorption, homozygotes develop iron overload but penetrance is very variable (McCune et al. 2006). Most orthopedic surgeons meet patients with undiag-nosed HH on a yearly basis and an early diagnosis and treatment is important in order to avoid cirrhosis of the liver. Also, the risk of developing hepataocellular cancer is at least 20-fold higher than in their first-degree relatives (Elmberg et al. 2003). Fatigue and arthritis, unspecific and therefore often neglected, are common presentations whereas the classic bronze diabetes (darkened skin, diabetes, and cirrhosis) is the final stage of untreated HH that is very rarely seen (McDonell et al. 1999). A survey of 2,851 patients with hemochromatosis showed that patients had consulted a physician after an average of 2 years of symptoms, and on average it took a further 10 years before the diagnosis was made (McDonell et al. 1999). This is unfortunate, since medical treatment—i.e. regular phlebot-omy—is effective. During the period 2001–2008, I replaced 93 ankles in 86 patients and 4 of these patients proved to have hemochroma-tosis. Here I have reviewed the orthopedic manifestations in 7 patients who had one or both ankles replaced during this period, 3 of whom had had their ankles replaced elsewhere. Cases The original records from all orthopedics departments and units of gastroenterology involved were consulted and the author interviewed the patients at least twice. All but 1 patient were below the age of 45 when they had their first joint symptoms, and there was usually a long patient's and doctor's delay before diagnosis and treatment. In 4 cases the hip, knee or ankle joint, and not the MP joints, was the first joint to become symptomatic. Only in one case (patient 5) did the joint symptoms start after the time that the diagnosis of HH had …