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What is it about ?
Porphyria is a rare inherited metabolic disease characterized by a disorder in the production of heme. Heme is called a “cofactor” of hemoglobin. Hemoglobin is the main protein in the red blood cell and it is this that gives blood its red color. She is also responsible for transporting oxygen to the tissues. It is aided in this process by the heme molecule. Heme is produced in the liver by a number of enzymes (which are proteins that delay or speed up reactions in the body). In acute porphyria, the production of some of these enzymes is disrupted.
There are several types of acute porphyria. We will only deal with the most common here: acute intermittent porphyria. The adjective “acute” means that it occurs quite suddenly and “intermittently”, that is, at intervals (attacks).
What is its frequency?
Porphyria is a very rare disease. It may affect 1 to 9 people in 1 million1. The disease usually starts after puberty, especially between the ages of 20 and 40.
How to recognize it?
Almost all patients experience severe pain in the stomach, which is usually not confined to a specific location. The condition is frequently associated with nausea, vomiting and constipation. Other symptoms are also possible: pain in the limbs, rapid heartbeat, high blood pressure (hypertension), psychiatric symptoms (anxiety attacks, hallucinations and depression) and urine that is red in color (this symptom is quite characteristic) .
Symptoms are often triggered by certain medications (eg the pill, the antimalarial chloroquine, etc.), alcohol, or may start during menstruation, an infection or a fasting period.
In advanced cases, the nerves can also be affected, leading to muscle weakness and paralysis. People with porphyria are also more susceptible to developing liver cancer, especially after the age of 50. This can be combined with jaundice (yellowish discoloration of the whites of the eyes and skin) accompanied by dark discoloration of the urine and pale colored stools.
How is the diagnosis made?
Although the disease is already well known, the diagnosis remains a challenge for the doctor. Indeed, many symptoms remain rather vague. It is possible to make the diagnosis quickly by determining the presence of a substance in particular in the urine: the level of porphobilinogen. This substance is a precursor to heme. As porphobilinogen is not transformed into heme, its concentration increases in the blood and it appears en masse in the urine. In the case of porphyria, its rate is 10 to 30 times higher than normal.
If the doctor makes the diagnosis of porphyria, he or she will examine all family members for possible detection of the disease in them as well, as it is hereditary. In this way, the diagnosis can also be made with family members even before they develop the disease.
What can you do ?
If the disease occurs in your family, ask all family members to be examined for the possible presence of porphyria.
What can the doctor do?
The treatment of seizures is done in the hospital. The heme that you do not produce yourself will then be given to you intravenously. Your diet will be adapted by adding starch. Painkillers are given if necessary. The doctor also treats hypertension as well as psychiatric problems. In case of damage to the nerves, the doctor will ask you to follow a physiotherapy program. If you are over 50, the doctor will pay more attention to the risk of developing liver cancer and cirrhosis of the liver. A liver transplant is possible.
Sources
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