E80.2: Other porphyria

In the body, certain proteins ensure that processes run better or more quickly. These proteins are also known as enzymes. Porphyria is a disorder that involves certain enzymes not working properly. These enzymes normally ensure that the substance heme is formed. 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. When heme is formed, various precursors are created. These precursors are called porphyrins.

With this form of porphyria, the heme in the liver is not formed properly. If the heme is not formed properly, porphyrins will accumulate in the body. Porphyrins may also build up in the skin or nervous system. The nervous system includes all the nerves in the body, as well as the brain and the spinal cord. The nerves run from the brain and spinal cord into the body. They convey information in the body.

The symptoms of porphyria depend on where the porphyrins build up. When porphyrins build up in the skin, the skin reacts strongly to sunlight and is damaged as a result. The skin can then form blisters and become scarred. If the porphyrins build up in the nervous system, this may cause numbness. You may also not be able to move parts of your body properly. Stomach problems or circulatory problems may also occur. If the condition is very pronounced, you may be seriously ill.

Porphyria can be congenital. Other family members may therefore also be affected. It is also possible that porphyria occurs as a result of liver damage. In such cases, symptoms appear particularly when the liver is put under additional strain. This can happen especially if you drink alcohol or if you are taking specific medication.