Woman’s undiagnosed hereditary hemochromatosis triggers porphyria
PCT is marked by light sensitivity that leads to painful skin lesions, blisters
Undiagnosed hereditary hemochromatosis in a 34-year old woman played a key role in her developing porphyria cutanea tarda (PCT), according to a case report.
The woman was treated with therapeutic phlebotomy, or bloodletting, to remove excess iron from the blood, which significantly eased her symptoms. Hereditary hemochromatosis is a disorder marked by iron overload, particularly in the liver.
“This case report serves to supplement the paucity of existing literature detailing the complex association between PCT and [hereditary hemochromatosis] and the diagnostic challenges of identifying these commonly coexisting conditions,” the researchers wrote.
The study, “Porphyria Cutanea Tarda in a Patient With Hereditary Hemochromatosis: A Complex Overlap Disorder,” was published in Cureus.
Porphyrias are disorders caused by disruptions in the production of heme, a molecule that’s needed for oxygen transport in cells. Producing heme involves multiple enzymes and when its production becomes impaired, intermediate molecules used to make heme build up to toxic levels in different parts of the body, causing damage.
PCT is the most common form of porphyria. It’s characterized by light sensitivity that leads to painful skin lesions and blisters in areas exposed to the sun. The condition is caused by the reduced activity of the enzyme uroporphyrinogen decarboxylase (UROD) in the liver and is often triggered by environmental factors. In PCT, there is an increased prevalence of HFE gene mutations that can lead to hereditary hemochromatosis.
A diagnosis of PCT, hemochromatosis
The woman was first seen after having blistering skin for three months, along with rash and bullous lesions in the hands and fingers. She initially received treatment at a local urgent care clinic with antibiotics and a three-week course of oral corticosteroids, which offered minimal help.
She was referred to dermatology and had a skin biopsy that revealed classic signs of PCT. Initial blood work showed elevated levels of transaminases, a type of liver enzyme, and iron overload. Further tests showed she had high blood and urine levels of certain porphyrins, supporting a PCT diagnosis. Because of the excess iron in her blood, she was sent for genetic testing, which revealed a C282Y mutation in both copies of the HFE gene, consistent with a hemochromatosis diagnosis.
The woman started therapeutic phlebotomy, or bloodletting, of 450 mL of blood every two to four weeks to reduce levels of ferritin, a protein that stores iron. She was also advised to avoid alcohol and on proper sunlight exposure and skin protection to avoid worsening her skin lesions.
After six months of treatment, she showed marked improvements. Her pain and itching eased and no new bullous lesions appeared. Her previous skin lesions also continued to heal. Laboratory results at follow-up visits showed her iron indices and liver enzymes had normalized. She remained on maintenance phlebotomy every six to 12 weeks.
“This case highlights the importance of the careful diagnostic consideration of coexisting HFE mutations and the early detection and treatment of iron overload in patients presenting with PCT,” the researchers wrote.
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