Porphyria

What is the prevalence of Porphyria?

How many people does Porphyria affect? Does it have the same prevalence in men and women? And in the different countries?

Porphyria refers to a group of rare genetic disorders that affect the production of heme, a vital component of hemoglobin. These conditions are characterized by the abnormal accumulation of porphyrins, which can cause a range of symptoms depending on the specific type of porphyria.

Due to the rarity and complexity of porphyria, it is challenging to determine its exact prevalence. However, estimates suggest that the overall prevalence of porphyria worldwide is relatively low, affecting approximately 1 in 10,000 to 1 in 50,000 individuals.

It is important to note that the prevalence can vary significantly among different types of porphyria. For instance, acute intermittent porphyria (AIP) is considered the most common form, with an estimated prevalence of 1 in 20,000 individuals. On the other hand, rarer forms such as congenital erythropoietic porphyria (CEP) have a much lower prevalence, affecting approximately 1 in 1 million individuals.

While porphyria is considered a rare condition, it is crucial to raise awareness about its existence and the potential impact it can have on individuals' lives. Early diagnosis and appropriate management are essential in improving the quality of life for those affected by porphyria.

by Diseasemaps

the prevalence of AIP, the most common porphyrias is 1 in every 25000 for the gen mutation and only 10% will develop symptoms in their lives. other porphyria prevalences are even less common and the rate gets as low as 1 in every 100000

3/30/19 by Marie 2500

In South Africa, Variegate Porphyria is the most common type with 1 in 300 of the population having Porphyria. Throughout the world, over 100 mutations have been shown to result in defective protoporphyrinogen oxidase activity and variegate porphyria. One mutation, the R59W mutation, represents the founder mutation in the South African population, and accounts for approximately 95% of all patients with variegate porphyria in South Africa. Testing for the R59W mutation is therefore a useful diagnostic test in the South African population. At least nine other mutations are found in South Africa Researchers in South Africa were able to trace the disease to the founding family. Gerrit Jansz van Deventer came to the Cape of Good Hope & subsequently married Ariaantje Jacobs on the 29th October 1688. South Africa Pedigrees have traced the start of porphyria in South Africa to these two individuals. They had eight children, four of whom suffered from porphyria. Researchers have been unable to determine which of the two individuals had the condition- perhaps they both had Variegate Porphyria. Women tend to suffer more attacks because of the hormonal fluctuations, especially during pregnancy or a monthly period. Biochemical testing - Biochemical tests (urine or stool porphyrin testing) is usually done after puberty as the characteristic biochemical features of AIP, VP, PCT and HCP, like the clinical features, only appear to manifest thereafter, usually from the age of 16-20 onwards.

6/1/21 by Carollynn 5770

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