These symptoms indicate that

Porphyria can manifest itself in very different ways, such as severe abdominal pain or extremely light-sensitive skin. What other symptoms are there?

The term porphyria does not refer to a single disease, but rather summarizes a group of eight metabolic diseases. These have one thing in common: the body cannot properly produce a component of the blood pigment hemoglobin, the so-called heme, and only produces precursors of it.

The body produces heme in the bone marrow and liver using eight different enzymes in eight production steps. In people with porphyria, at least one of these enzymes is defective or present in insufficient amounts.

As a result, the production chain cannot run completely, but only up to a certain point. As a result, more and more heme precursors accumulate in the body: the so-called porphyrins. This can lead to health problems.

In this article you will find information about the two most common forms of porphyria:

• of acute intermittent porphyria (acute hepatic porphyria) and
• chronic hepatic porphyria (porphyria cutanea tarda).

Acute intermittent porphyria is usually the result of a hereditary genetic defect, the effects of which, however, usually only become apparent in adulthood. Chronic hepatic porphyria, on the other hand, can be hereditary or acquired as a result of liver damage.

In the following chapters you will find out which symptoms are expressed by the two forms.

People with acute intermittent porphyria (also called acute hepatic porphyria) may experience a variety of symptoms. These usually develop around the age of 30. The disease is more common in women than in men.

These are often symptoms related to the nervous system. Skin symptoms, on the other hand, never occur with this form of porphyria.

In the case of acute intermittent porphyria, the symptoms often develop quickly and sometimes very severely. The symptoms often occur in attacks that can sometimes last for days or weeks. How the disease manifests itself in individual cases can be very different.

Examples of possible complaints include:

Various factors can trigger flare-ups

In people with acute intermittent porphyria, various influences are known, which under certain circumstances can trigger a flare-up and thus symptoms of the disease in attacks. Examples of possible risk factors include:

• various medications (such as birth control pills or other estrogen-containing medications, anti-epileptic drugs, or tranquilizers)
• alcohol
• Smoking
• Fasting cures or other forms of starvation
• stress

Chronic hepatic porphyria (also called porphyria cutanea tarda) develops more frequently in men than in women and usually only after the age of 40. Typical of this form of porphyria is that the symptoms affect almost exclusively the skin, with the triggering factor being sunlight.

For example, the skin of those affected is very sensitive to daylight (especially on the back of the hand) and produces fluid-filled, painless blisters that later scar. Even windows and sunscreen can hardly protect against the effects. Because it is not the UV light that is decisive here, but the blue light component.

In people with chronic hepatic porphyria, the skin is often more fragile, prone to injury, and more pigmented. In addition, the body is often more hairy, especially in areas exposed to light, such as in the temple area or on the face in the area of ​​the cheekbones. In some cases, liver damage can also occur.

Those affected often have hepatitis C at the same time. Infection-related liver inflammation is considered a possible trigger of acquired chronic hepatic porphyria.

So far, porphyria cannot be treated causally and therefore cannot be cured in the true sense of the word. Treatment is therefore primarily aimed at relieving the symptoms and avoiding triggering factors. Exactly what the treatment looks like depends on what form of porphyria it is.

Treatment for acute intermittent porphyria

If, for example, an acute intermittent porphyria flares up, the patient receives the lack of heme as an infusion through a vein. As a result, the amount of heme precursors in the blood drops rapidly and the symptoms subside after a few days.

On the other hand, those affected usually also receive a sugar solution via a vein or gastric tube. This should provide them with the missing carbohydrates. This can be particularly advisable if the flare-up was the result of fasting or a diet that restricted carbohydrates.