Report Describes Successful Case of PCT Diagnosis, Treatment

Report Describes Successful Case of PCT Diagnosis, Treatment
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A case report describes the successful diagnosis and treatment of porphyria cutanea tarda (PCT) in a man presenting with a history of untreated hepatitis C.

The case report, “«They Won’t Let Me Return to Work.» A Carpenter Diagnosed with Porphyria Cutanea Tarda,” was published in the journal Skin.

PCT, the most frequent type of porphyria, occurs due to deficiency of an enzyme called uroporphyrinogen decarboxylase (UROD), leading to the buildup of porphyrins that are essential to produce hemoglobin, the molecule in red blood cells responsible for carrying oxygen in the body.

The disease is characterized by light-sensitive skin that blisters on the face and hands. It can be caused by mutations in the UROD gene, but non-genetic factors such as alcohol consumption, tobacco use, excessive iron in the liver, or infection by the hepatitis C virus, also may drive disease development.

Here, researchers at Maine-Dartmouth Family Medicine Residency reported the case of a 46-year-old white man from a rural setting who worked as a carpenter, often outdoors. He presented with a clinical history of chronic untreated hepatitis C infection, alcohol abuse, and smoking.

The patient complained of recurrent, itchy, easily-ruptured blisters and small white bumps for nearly six months. He was not on any medication and denied any personal or family history of blistering or other skin disorders.

An initial physical examination revealed lesions on the back of his hands, forearms, face, and ears. These included scattered erosions and ulcerations with crusts, altered skin pigmentation, and scarring.

These findings, added to the history of hepatitis C and alcohol abuse, made the clinical team suspect of PCT. Skin biopsies, in which a small piece of tissue is removed to be examined, as well as blood and urine porphyrins testing, were conducted. The patient also was screened for hepatitis C viral load and HIV.

Analysis of skin tissue samples revealed no fungal or bacterial infections and were again consistent with PCT, as were the elevated levels of porphyrins (32.8 micrograms/deciliter). He was positive for hepatitis C — viral load 66,900 international units/L — but negative for HIV.

As a result, he was referred to different medical specialists to begin treatment for hepatitis C (gastroenterology), and therapy with phlebotomy (hematology) and hydroxychloroquine (dermatology), both commonly used in PCT. Phlebotomy is a technique used to lower iron load in people with porphyria.

The patient showed significant improvement in his skin condition and was able to resume work following treatment, alcohol cessation, lower cigarette use, and proper sun protection.

“Our patient had multiple risk factors consistent with PCT and a clear photo distribution of lesions which proved key in shaping the differential [diagnosis]. Through effective cross disciplinary communication we were able to order the appropriate studies that facilitated both a quick diagnosis and treatment plan,” the researchers wrote.

“This case illustrates a classic example of PCT and is representative of the profound response to therapy that can be achieved by a motivated patient and effective integrated care,” the team added.

Total Posts: 12
José is a science news writer with a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimer’s disease.

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