Porphyria Cutanea Tarda Solved by Treating HCV Infection, Study Reports

Forest Ray PhD avatar

by Forest Ray PhD |

Share this article:

Share article via email
genetoic counseling

Physicians solved a case of porphyria cutanea tarda (PCT) — with blistering lesions on the patient’s arms, neck and face — by treating an underlying infection caused by the hepatitis C virus (HCV), according to a new report.

The case was described in the study, “A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage,” published in the Dermatology Online Journal.

Porphyria is a very rare disorder, characterized by the buildup of chemicals that produce porphyrins. Porphyrins are essential for hemoglobin, which is the molecule in red blood cells responsible for carrying oxygen to where it is needed in the body.

While its symptoms vary widely, the most common type of porphyria is PCT. In PCT, an enzyme called uroporphyrinogen decarboxylase (UROD) malfunctions, leading to the buildup of porphyrins in the skin that make individuals extreme sensitive to sunlight.

PCT is nearly always caused by a combination of genetic and acquired factors. Genetic factors include a mutation in the UROD gene and a condition called hemochromatosis, in which the body absorbs excessive amounts of iron. Acquired, or environmental, factors include HCV infection, alcohol consumption, and tobacco use.

In this report, investigators at the Laser Skin & Surgery Center of New York, in collaboration with colleagues at the New York University Langone Medical Center, described the case of a PCT patient whose symptoms resolved following treatment for an underlying HCV infection.

The 69-year-old man was a smoker with a history of untreated hepatitis C and type II diabetes, who went to the NYU Langone Tisch Hospital complaining of erupting blisters that had persisted for several months.

The patient described a long history of “marks” on his forearms and hands, although they had never blistered until two months prior. His symptoms had worsened over the week leading up to his hospital visit, with increasing numbers of blisters on the backs of his hands and forearms, continuing up to his left cheek, ear, and neck. Itching, as well as a burning sensation, accompanied the eruptions.

The man had been taking varenicline to help him stop smoking, although he admitted to “cheating” with several cigarettes a day. He also had been taking tramadol, a narcotic-like pain reliever, for joint pain.

Roughly two weeks prior to his visit, however, he stopped taking all medications out of fear that the blisters might be a reaction to one of them. Finally, he reported a history of frequent dark urine, chronic joint pain, and Raynaud phenomenon, in which the fingers or toes feel numb or cold.

A complete blood count revealed slightly low levels of hemoglobin and hematocrit, the proportion of red blood cells in the total blood volume. His erythrocyte sedimentation rate and levels of C-reactive protein also were elevated, both indicative of an underlying inflammation.

As part of his examination, and to obtain a differential diagnosis, the physicians gave the man a urine fractionated porphyrin test and also measured the levels of porphyrins in his blood.

The urine test revealed high amounts of uroporphyrin, heptacarboxylate porphyrin, and pentacarboxyl porphyrins. His blood porphyrin level also was high, at 669 nmol/L, compared with a normal range of 0-15 nmol/L. These findings confirmed the diagnosis of PCT.

Although porphyria can’t yet be cured, its symptoms can be managed through medications and certain lifestyle changes. Several past case studies have shown that PCT symptoms can be resolved through treatment for the hepatitis C virus.

Following the diagnosis of PCT and the discovery of his underlying HCV, treatment for that infection was started. The physicians also recommended he quit smoking, avoid direct sun exposure, and cut down on iron-rich foods and alcohol consumption. He also was advised to stop taking any medications that could be toxic to his liver.

The man showed significant improvements at his three-week follow-up, which were sustained at six months.