Porphyria: symptoms, diagnosis, treatment and cause

Porphyria is a rare condition. This metabolic disease occurs when a certain enzyme is not or insufficiently produced in the liver. The human body itself produces porphyrins. These are necessary for the production of hemoglobin (the red blood dye). If there is porphyria, the porphyrins are not converted into hemoglobin. The disease occurs in different types.

Cause

Porphyria is often a hereditary disease. The metabolic disorder is usually only discovered when the complaints manifest themselves. The hereditary transmissibility varies among the different types of porphyria. The disease can also be associated with other liver disorders, alcohol addiction or AIDS. Porphyria can also be a result of the use of certain medications.

The functions of porphyrins

Porphyrins attach to iron. This creates heme, the red pigment in the blood. In addition to the red pigment, cells can also use cells. The hemoglobin is a heme protein.

Symptoms

Porphyria is divided into acute intermittent porphyria (AIP), porphyria cutanae tarda (PCT), porphyria variegata and hereditary coproporphyria. The symptoms of these different porphyrias are different, but are often accompanied by abdominal pain, low energy and back pain.

Symptoms of acute intermittent porphyria (AIP)

Acute intermittent porphyria progresses gradually. However, an attack can occur suddenly. These are accompanied by severe abdominal pain, nausea, vomiting, constipation, fever and an increase in blood pressure. Sometimes the patient suffers from paralysis and hallucinations. The skin color may turn brown.

Symptoms of porphyria cutanae tarda (PCT)

Porphyria cutanea tarda is associated with the skin getting a brown tint. The patient has difficulty tolerating the sun and even suffers from blisters. Hair may suddenly start growing on the forehead. This form of porphyria is often accompanied by jaundice, fatty liver and iron overload.

Symptoms of porphyria variegata

Typical symptoms that occur with porphyria variegata are pain in the abdomen, sudden inability to stand the sun and the occurrence of hallucinations.

Symptoms of hereditary coproporphyia

Hereditary coproporphyria is the least severe form of porphyria. Characteristic complaints are light sensitivity and abdominal pain.
Patients with porphyria often have urine with a purplish tint. Psychological complaints can also occur during attacks of poryphoria. For example, the patient may develop delusions or become depressed.

Diagnosis

Porphyria can be easily diagnosed. If there is a suspicion, the amount of porphyrin in the urine and feces is determined. If this shows that the patient actually has porphyria, an even more extensive blood and urine test will follow. This was to determine which form of porphyria occurs. A doctor will quickly suspect porphyria if the urine turns purple-red. It may be necessary to investigate other causes as well. Various cancer types can also show higher levels of porphyrin than usual. It may therefore be necessary to make ultrasounds and/or scans. Because porphyria is a rare disease, porphyria is often not suspected when the complaint occurs and a diagnosis can take a long time.

Therapy

Currently, porphyria is an incurable disease. There is no cure, but it is possible to combat the symptoms of porphyria to improve the patient’s life. Many patients suffer from attacks with complaints such as severe abdominal pain and delusions. The drug hememarginate can then be taken to reduce these symptoms. Some people with porphyria benefit from the introduction of a glucose infusion. Attacks of porphyria are then somewhat alleviated. Patients with porphyria cutanae tarda often suffer from iron accumulation. There are treatment options for this, such as bloodletting and centrifuging blood. They also benefit from using a small dose of chloroquine or hydroxychloroquine. This should not be used too often.

Living with porphyria

To avoid an attack of porphyria, it is possible to avoid as many triggers as possible. Well-known triggers of porphyria attacks are stress, the use of alcohol, inflammation, excessive sunlight and the use of sleeping medications. Patients may benefit from a carbohydrate-rich diet. Sugars reduce the production of porphyrin in the liver. Before starting this, a diet must be put together with a dietician.

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