What is variegated porphyria?

Variegate porphyria is a subtype of porphyria. It is an inherited disorder characterised by skin photosensitivity (reaction to light), systemic symptoms arising from neurological problems, or both.

What is the effect of porphyria?

Cutaneous porphyrias Sensitivity to the sun and sometimes artificial light, causing burning pain. Sudden painful skin redness (erythema) and swelling (edema. Blisters on exposed skin, usually the hands, arms and face. Fragile thin skin with changes in skin color (pigment)

How was porphyria discovered?

Using Paul Ehrlich’s aldehyde reagent, Waldenstorm identified 103 patients with acute porphyria by testing their urine and noting the red color. He discovered that asymptomatic family members of these patients also had the same reaction if they ingested even small amounts of barbiturates and sulphonal. 1949 Dr.

Where is porphyria found?

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.

What are the symptoms of variegate porphyria?

Blistering and fragility of sun-exposed skin are the most common skin (cutaneous) symptoms. Common neurological symptoms include abdominal pain, nausea, vomiting, constipation, extremity pain and weakness, anxiety, restlessness and convulsions.

How is porphyria treated today?

Treatment may include: Injections of hemin, a medication that is a form of heme, to limit the body’s production of porphyrins. Intravenous sugar (glucose), or sugar taken by mouth, if able, to maintain an adequate intake of carbohydrates.

Is porphyria a disability?

People who are trying to win benefits for porphyria need to meet certain criteria in the Social Security Blue Book, which outlines the disability benefits for a wide variety of conditions. People with cutaneous porphyria can gain benefits under Skin Disorders or Genetic Photosensitive Disorders.

Does porphyria make you crave blood?

People with porphyria experience the desire to drink human blood to alleviate their symptoms (the genetic disease causes abnormalities in a person’s hemoglobin, a protein found in red blood cells), declared biochemist David Dolphin.

How is variegate porphyria diagnosed?

Variegate porphyria is diagnosed based on the symptoms, clinical examination and blood, urine and stool testing. The diagnosis may be confirmed by the results of genetic testing .

What is the founder effect of variegate porphyria?

A founder effect is when a small isolated population of settlers (founders) expands over several generations leading to a high prevalence of a genetic trait. Most individuals with Variegate Porphyria in South Africa carry the same PPOX mutation and are descendents of a Dutch settler from the late 1600s.

How many people have variegate porphyria in South Africa?

Most individuals with variegate porphyria in South Africa carry the same PPOX mutation and are descendants of a Dutch settler from the late 1600s. The incidence of variegate porphyria in South Africa among Caucasians is estimated to be 1 to 3 in 1,000 individuals.

What causes the build up of porphyrins in the skin?

In cutaneous porphyria, the porphyrins build up in the skin, and when exposed to sunlight, cause symptoms. In acute porphyrias, the buildup damages the nervous system. Most forms of porphyria are inherited. Porphyria can occur if you inherit: A defective gene from one of your parents (autosomal dominant pattern)

Are there any treatments for variegate porphyria tarda?

Treatments that are effective in porphyria cutanea tarda, namely phlebotomies and low-dose hydroxychloroquine or chloroquine, are not useful in variegate porphyria because, even though the skin abnormalities are the same, the underlying abnormalities in the liver are very different.