AI Article Synopsis
- Porphyrias are rare illnesses that happen when the body has trouble making a substance called haem, which can lead to different symptoms.
- Some people with acute porphyrias can have painful nerve and stomach issues, while those with skin issues can get sunburned easily.
- A study from Denmark found a total of 650 people with the most common type of porphyria and provided information on how often these conditions happen and how to treat them.
Article Abstract
Porphyrias are rare diseases caused by altered haem synthesis leading to the accumulation of different haem intermediates. Neurovisceral attacks may occur in acute porphyrias, while photosensitivity is the presenting symptom in cutaneous porphyrias. We present here an overview of symptoms and a flowchart for the diagnosis of cutaneous porphyrias, with recommendations for monitoring and an update of treatment options. From the Danish Porphyria Register, we present the incidences and approximate prevalences of cutaneous porphyrias within the last 25 years. A total of 650 patients with porphyria cutanea tarda were identified, 73 with erythropoietic protoporphyria, 9 with variegate porphyria, 4 with hereditary coproporphyria and one with congenital erythropoietic porphyria. The total incidence of all porphyrias was ~0.52/100,000 per year.
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| http://dx.doi.org/10.2340/00015555-2444 | DOI Listing |
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Article Synopsis
- Porphyria cutanea tarda (PCT) is a skin condition primarily caused by defects in the liver enzyme uroporphyrinogen decarboxylase (UROD), with type 1 PCT being the more common form associated with risk factors like alcohol use, liver disease, and hormonal therapy.
- A case study describes an elderly man with PCT who has risk factors including heavy alcohol and tobacco use, along with a novel genetic mutation affecting UROD function.
- The identified mutation, c.224 G>C; p. Arg 75 Pro, was shown to significantly reduce UROD enzyme activity by 50%, suggesting it is a pathogenic factor contributing to the patient's condition.
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