12-25-2007, 09:31 AM
Porphyria, Hepatitis C, and Hereditary Hemochromatosis: A Surprising but Important Relationship
here have been a number of recent reports, mainly from Europe, noting the prevalence in patients with porphyria cutanea tarda (PCT) of hepatitis C (HCV) infection as well as mutations in the HFE gene responsible for hereditary hemochromatosis. Now, Bonkovsky and colleagues (1998) report similar findings in North American patients with PCT.
These authors found that of 70 patients with PCT, 56 percent had evidence of HCV. Many of these patients also had a history of alcohol abuse, illicit drug use, or multiple sexual partners. They also studied 110 HCV patients without PCT and, although 16 had an increase in uroporphyrins, unlike PCT these consisted mainly of coproporphyrins. Furthermore, 42 percent of PCT patients had the C282Y mutation of the HFE gene and 31 percent carried the H63D mutation. Thus, 73 percent of PCT patients had one of these HFE mutations. It will be recalled that (1) most patients with PCT have some degree of iron overload, (2) iron removal diminishes porphyrin overproduction and improves clinical features, and (3) ingestion of iron by patients with PCT results in relapse.
At present, the link and association between PCT, chronic HCV infection, and mutations in the HFE gene remains speculative. However, as Bonkovsky and colleagues emphasize, the initial management of PCT should continue to include the removal of possible offending agents (including alcohol, estrogens, haloaromatic compounds, and iron) and iron depletion by phlebotomy. Patients with PCT and chronic HCV may derive benefit not only from iron reduction but also from interferon and ribavirin therapy.
here have been a number of recent reports, mainly from Europe, noting the prevalence in patients with porphyria cutanea tarda (PCT) of hepatitis C (HCV) infection as well as mutations in the HFE gene responsible for hereditary hemochromatosis. Now, Bonkovsky and colleagues (1998) report similar findings in North American patients with PCT.
These authors found that of 70 patients with PCT, 56 percent had evidence of HCV. Many of these patients also had a history of alcohol abuse, illicit drug use, or multiple sexual partners. They also studied 110 HCV patients without PCT and, although 16 had an increase in uroporphyrins, unlike PCT these consisted mainly of coproporphyrins. Furthermore, 42 percent of PCT patients had the C282Y mutation of the HFE gene and 31 percent carried the H63D mutation. Thus, 73 percent of PCT patients had one of these HFE mutations. It will be recalled that (1) most patients with PCT have some degree of iron overload, (2) iron removal diminishes porphyrin overproduction and improves clinical features, and (3) ingestion of iron by patients with PCT results in relapse.
At present, the link and association between PCT, chronic HCV infection, and mutations in the HFE gene remains speculative. However, as Bonkovsky and colleagues emphasize, the initial management of PCT should continue to include the removal of possible offending agents (including alcohol, estrogens, haloaromatic compounds, and iron) and iron depletion by phlebotomy. Patients with PCT and chronic HCV may derive benefit not only from iron reduction but also from interferon and ribavirin therapy.