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What is it?

The porphyrias are a group of uncommon diseases that cause signs and symptoms affecting the skin, the nervous system, or both.

Porphyria is caused by an accumulation of porphyrins either in the skin, which results in sensitivity to sunlight, or in the liver, which results in acute attacks of porphyria. Normally, porphyrins are converted from one type of porphyrin to another, in a sequence of chemical reactions, each one under the control of a specific enzyme. The end product of this sequence is haem, an essential component of haemoglobin, which is responsible for transporting oxygen around our bodies. If one of these enzymes is deficient or defective, the sequence stops at that point and the porphyrins produced up to that point accumulate. In all, there are seven types of porphyria of which four are acute porphyrias, with the remaining predominately affecting the skin. Each porphyria is caused by deficiency of a specific enzyme in the pathway.

The porphyrias are as follows:

Porphyria cutanea tarda
The most common form of porphyria in Australia and elsewhere in the world is called porphyria cutanea tarda or PCT. PCT does not usually occur until middle age and affects the skin in sun-affected areas causing fluid-filled blisters to appear. Over time the skin becomes scarred, brown and blotchy and fragile. Sometimes excess hair grows in the affected areas. PCT is mostly sporadic but can run in families. Even in cases where it appears to be inherited from a parent, another factor is usually required before it causes symptoms. The most common factor is excessive alcohol consumption but the presence of other diseases such as haemochromatosis, hepatitis C and HIV infection may trigger PCT symptoms.

Acute intermittent porphyria
The next most common form of porphyria is acute intermittent porphyria or AIP. AIP causes only neurological symptoms and does not affect the skin. AIP is inherited (autosomal dominant) but may appear to skip generations as many people who inherit the disease never get any symptoms. AIP almost never appears before puberty. Affected people get attacks that develop over hours or days and last for days or weeks if untreated.

The most common symptom is pain in the abdomen, which is often severe, but the pain may affect other areas of the body as well. Muscle weakness of the arms and legs may occur and in severe cases weakness of the breathing muscles may require the person to be placed on a ventilator. A variety of other symptoms may occur due to various parts of the nervous system being affected, these include, loss of sensation, confusion, fits, palpitations, high blood pressure and constipation or diarrhoea. AIP is often precipitated by factors such as drugs (see the drug lists in the related web pages of this article), hormones, starvation and dieting, and stress caused by infections, surgery, accidents or even psychological stress.

Erythropoietic protoporphyria
The third most common form of porphyria is erythropoietic protoporphyria or EPP. EPP is also inherited (autosomal recessive). EPP affects the skin mainly and usually starts in childhood or adolescence. Children with EPP are unusually sensitive to the sun and develop itching, burning pain and swelling in sun-exposed skin often within minutes of sun exposure. Over time the skin becomes thickened and waxy in appearance and permanent spots, scars and other changes may appear. A small number of affected children also develop liver disease and gallstones and in some cases the liver disease can be serious.

Other forms of porphyria are very rare. Variegate porphyria or VP, (more common in white people of South African ancestry) and hereditary coproporphyria or HCP can both cause neurological symptoms like AIP and skin symptoms like PCT. Most affected persons get either neurological or skin symptoms but a few unlucky persons get both. Both of these diseases are inherited as autosomal dominant conditions like AIP. There are other even rarer forms of porphyria but they all cause some combination of the symptoms described above but sometimes in a more severe manner.


Last Review Date: December 21, 2018