Is porphyria cutanea tarda inherited?
Approximately 80% of all cases of porphyria cutanea tarda are acquired; 20% are familial, although the ratio may vary among different geographic regions and ethnic groups. Familial porphyria cutanea tarda most often arises from autosomal dominant inheritance of a single mutation of the UROD gene.
What is the treatment for porphyria cutanea tarda?
The standard treatment of individuals with PCT is regularly scheduled phlebotomies to reduce iron and porphyrin levels in the liver. This is the preferred treatment of affected individuals at many Porphyria centers regardless of whether there is confirmed iron overload.
How common is porphyria cutanea tarda?
Porphyria cutanea tarda (PCT) is the most common form of porphyria but is still rare, affecting only 1 in every 10,000 to 25,000 people in the general population. It usually develops after the age of 30 and can impact men and women of all ethnicities.
Excessive intake of iron whether through supplements or foods that are rich in iron
What causes porphyria cutanea tarda?
Porphyria cutanea tarda (PCT) typically is acquired rather than inherited, although the enzyme deficiency may be inherited. Certain triggers that impact enzyme production — such as too much iron in the body, liver disease, estrogen medication, smoking or excessive alcohol use — can cause symptoms.
What does porphyria cutanea tarda stand for?
Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis.
How is porphyria cutanea tarda diagnosed?
PCT may be clinically suspected but should always be confirmed by laboratory tests. Examination of the urine with a Wood’s lamp may reveal coral pink fluorescence due to excessive porphyrins. A skin biopsy can be helpful to distinguish PCT from other blistering conditions.