American Porphyria Foundation Purple Light Blog

Diagnosis & Management of the Porphyrias:

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Diagnosis & Management of the Porphyrias:


These resources address the diagnosis or management of porphyria: GeneReview: Acute Intermittent PorphyriaGeneReview: Congenital Erythropoietic PorphyriaGeneReview: Erythropoietic Protoporphyria, Autosomal RecessiveGeneReview: Hereditary CoproporphyriaGeneReview: Porphyria Cutanea Tarda, Type IIGeneReview: Variegate PorphyriaGeneReview: X-Linked ProtoporphyriaGenetic Testing Registry: Acute intermittent porphyriaGenetic Testing Registry: Congenital erythropoietic porphyriaGenetic Testing Registry: Erythropoietic protoporphyriaGenetic Testing Registry: Familial porphyria cutanea tardaGenetic Testing Registry: Hereditary coproporphyriaGenetic Testing Registry: PorphyriaGenetic Testing Registry: Protoporphyria, erythropoietic, X-linkedGenetic Testing Registry: Variegate porphyriaMedlinePlus Encyclopedia: PorphyriaMedlinePlus Encyclopedia: Porph…

Inheritance Pattern
Some types of porphyria are inherited in an autosomal dominant pattern, which means one copy of the gene in each cell is mutated. This single mutation is sufficient to reduce the activity of an enzyme needed for heme production, which increases the risk of developing signs and symptoms of porphyria. Autosomal dominant porphyrias include acute intermittent porphyria, most cases of erythropoietic protoporphyria, hereditary coproporphyria, and variegate porphyria. Although the gene mutations associated with some cases of porphyria cutanea tarda also have an autosomal dominant inheritance pattern, most people with this form of porphyria do not have an inherited gene mutation. Other porphyrias are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the cond…

Frequency:  The exact prevalence of porphyria is unknown, but it probably ranges from 1 in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the most common type of porphyria. For some forms of porphyria, the prevalence is unknown because many people with a genetic mutation associated with the disease never experience signs or symptoms. Acute intermittent porphyria is the most common form of acute porphyria in most countries. It may occur more frequently in northern European countries, such as Sweden, and in the United Kingdom. Another form of the disorder, hereditary coproporphyria, has been reported mostly in Europe and North America. Variegate porphyria is most common in the Afrikaner population of South Africa; about 3 in 1,000 people in this population have the genetic change that causes this form of the disorder. Genetic Changes Each form of porphyria results from mutations in one of these genes: ALAD, ALAS2, CPOX, FECH,HMBS, PPOX, UROD, or UROS. The genes …

Read& Share: Porphyria 101- https://ghr.nlm.nih.gov/condition/porphyria
Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).
Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda.
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