E80.2: Other porphyria

You are unable to produce a certain substance in the body properly because you have certain proteins that are not working properly. You are thus probably having problems with your skin, stomach and nerves.

The substance heme has various tasks in the body. For example, heme is contained in the red blood pigment. The red blood pigment transports oxygen in the blood vessels to the organs. Various proteins are needed to create heme. In the process, precursors of heme come into being. These precursors are called porphyrins.

In your case, a particular protein is not working properly. That is usually congenital, which means you were born with it. As a result, the heme in the liver especially cannot be properly created.

The precursors are then accumulating in your body. The precursors are predominantly deposited in the nerves.

You will then often have abdominal pain and problems with your bowel movements. Sometimes your arms and legs may feel numb, tingly or painful. Your arms and legs may also be paralyzed. If your brain is affected, you may for instance get seizures and become unconscious. It is also possible that your skin will react strongly to sunlight. As a result, your skin may blister and scar.

This disease often occurs suddenly. That is especially the case when the liver has to do a lot of work. The liver has to work a lot when you drink alcohol or when you are taking certain drugs. Apart from the liver, other organs can also be damaged. If that occurs, one will often be very sick.