PCT likely trigger of hereditary condition marked by iron overload

Blisters of common porphyria can be 'first symptom' of hemochromatosis

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by Steve Bryson, PhD |

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A 77-year-old man with porphyria cutanea tarda (PCT), the most common form of porphyria, was diagnosed with adult-onset hereditary hemochromatosis, a condition marked by iron overload that can be associated with PCT.

He was successfully treated with antibiotic skin creams and regular therapeutic blood letting (phlebotomy) to remove excess iron from the body, and told to avoid exposure to sunlight.

His case demonstrates “that cutaneous [skin-related] symptoms due to porphyria cutanea tarda may be the first presenting symptom in patients with underlying hemochromatosis,” the scientists noted.

The man’s case was described in the report, “A Rare Case of Hereditary Hemochromatosis Presenting With Porphyria Cutanea Tarda,” published in the journal Cureus.

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Mutations in gene linked with PCT also cause hereditary hemochromatosis

Hereditary hemochromatosis is characterized by the presence of excessive amounts of iron in various tissues and organs, particularly in the skin, heart, pancreas, liver, and joints. Mutations in the HFE gene are known to cause the disease, but in some cases, it can remain asymptomatic until triggered by certain events.

One such trigger can be PCT, a disorder marked by sunlight sensitivity and the formation of painful skin lesions and blisters on sun-exposed areas.

Porphyria is caused by defects in the production of an iron-carrying molecule called heme, and its forms can be associated with iron overload in the liver. Reports also indicate that up to 80% of PCT patients have mutations in the HFE gene.

Researchers described the case of a 77-year-old man with PCT who was later found to have HFE mutations and diagnosed with hereditary hemochromatosis.

“Since HH [hereditary hemochromatosis] can present as non-specific symptoms, PCT may be the first manifestation of HH that brings a patient to a healthcare professional,” the team wrote.

He initially came to a hospital in Las Vegas with painful, dry, and dark blisters on both hands, which were treated with skin creams. He returned to his primary care physician several months later with the blisters at different stages of healing.

His medical history included type 2 diabetes, an irregular heartbeat, high cholesterol, and an underactive thyroid (hypothyroidism). He also had an abnormally high red blood cell count in the past year and elevated hemoglobin — the protein that carries heme-bound oxygen in red blood cells.

Blood tests showed signs of iron overload, including high levels of iron and ferritin, a blood protein that stores iron. Blood and urine tests found elevated levels of certain porphyrins, supporting a PCT diagnosis. Given the excess iron in his blood, he was also sent for genetic testing, which revealed the presence of two different mutations in the HFE gene.

An abdominal ultrasound revealed a mildly enlarged liver, consistent with hereditary hemochromatosis, with no signs of scarring or fibrosis. When screening ruled out other causes of chronic liver disease, he also was diagnosed with HH. He was unaware of a family history for the disease.

Therapeutic phlebotomy was performed to remove excess iron from his body. He was given antibiotic creams to treat his skin blisters and told to avoid sun exposure.

About six months later, with continued phlebotomy, his existing blisters healed and no new ones had formed. Iron blood tests came back normal.

“When a blistering condition is seen and porphyria is suspected, genetic testing for HFE mutations may be considered to screen for underlying HH,” the researchers wrote, adding that “therapeutic phlebotomy may be the most effective first-line therapy in patients with [a] dual diagnosis.”