Porphyria Cutanea Tarda (PCT) is a rare type of porphyria that causes skin fragility, blistering, and photosensitivity. Here are its causes, symptoms, diagnosis, treatment, and prevention methods:
As a result of a deficiency of uroporphyrinogen decarboxylase (UROD), Porphyria Cutanea Tarda results in heme production problems in the liver. Porphyrins accumulate in the skin when exposed to sunlight because of this deficiency, disrupting their normal metabolism. Alcohol consumption, hepatitis C infection, estrogen use, iron overload, and exposure to certain chemicals or medications can exacerbate or trigger symptoms in individuals with UROD deficiency.
Skin fragility, blistering, and photosensitivity are typical symptoms of Porphyria Cutanea Tarda, particularly in sun-exposed areas such as the face, hands, and arms. There may be chronic scarring and changes in skin texture in individuals with repeated blistering episodes, along with fluid-filled blisters, redness, itching, and hyperpigmentation. Patients with PCT may also experience fatigue, abdominal pain, liver enlargement, and abnormal liver function tests, in addition to skin manifestations.
Clinical evaluation, medical history review, and laboratory tests are used to diagnose Porphyria Cutanea Tarda. The levels of porphyrins, porphyrin precursors, and enzyme activity associated with PCT can be measured by healthcare providers by blood, urine, or stool tests. To detect any underlying liver abnormalities and assess liver health, liver function tests may also be performed. While genetic testing is not routinely performed for diagnosis, it may be used to confirm the presence of mutations associated with PCT.
Porphyria Cutanea Tarda treatment aims to reduce porphyrin levels, relieve symptoms, and prevent complications. By avoiding alcohol, protecting the skin from sunlight with clothing and sunscreen, and maintaining a healthy diet, you can minimize symptoms and prevent flare-ups. In PCT, phalebotomy is a common treatment option, as it removes excess iron stores from the body to reduce iron levels and porphyrin production. Occasionally, chloroquine or hydroxychloroquine may be prescribed to inhibit porphyrin production and improve skin symptoms.
Porphyria Cutanea Tarda can be prevented by avoiding triggers that exacerbate symptoms or precipitate flare-ups. As part of this, alcohol consumption should be minimized, estrogen-containing medications or hormonal therapies should be avoided, sunscreen and clothing should be worn to protect the skin from sunlight, and healthcare providers should be consulted regularly to monitor liver function and address any risk factors or underlying liver conditions.
