Porphyria – what it is, symptoms, treatment

Proven content

Porphyria is a genetic disease and one of its symptoms is photophobia. What does Vincent van Gogh have in common with King George III of England? Both are suspected of having had porphyria. Was it synonymous with vampirism in those days?

What is porphyria?

Generally speaking, porphyria is a disease, or rather diseases, the common feature of which are disorders of hemoglobin processing in the blood, precisely in the course of haem metabolism (disturbance of enzymes in the haem synthesis pathway, also known as the porphyrin pathway). It is most often hereditary and 50% of children are predisposed to inheritance in the family where the disease is detected in one of the parents.

With the so-called hepatic porphyria the most common symptom is severe and constant pain in the abdomen, which may also be felt in the back and groin area. Other common symptoms of the disease include nausea, vomiting, constipation, hypertension, tachycardia, sweating, pallor, and fever. In addition, there is a risk of developing neurological complications such as paralysis. A symptom that confirms the diagnosis of porphyria is discoloration of the urine. Urine turns reddish brown during an attack.

Porphyria and its types

Taking into account the cause of porphyria, we can distinguish seven different types. The disease classification, taking into account the location of the tissue in which the heme synthesis has been disturbed, distinguishes four types: hepatic porphyria, erythropoietic porphyria (acute and mild).

Types of porphyria:

1. porphyria from delta-aminolevulinic acid dehydratase deficiency
2. mieszana porphyria
3. late cutaneous porphyria,
4. Erythropoietic protoporphyria
5. acute intermittent porphyria
6. hereditary copropophyria
7. congenital erythropoietic porphyria

Porphyria – causes

As previously mentioned, the underlying cause of porphyria is a disturbance in the processing of hemoglobin in the blood (heme biosynthesis). According to numerous clinical studies, the disease can occur both as a result of genetics and external factors. Genetic mutations are associated with a single gene, eg FECH, which is responsible for encoding the functional protein of the ferrochelatase enzyme. These types of mutations are inherited in an autosomal, dominant manner. Genetic mutations in the remaining genes encoding heme biosynthesis are also the basis for the emergence of porphyria. About 80 percent. people, external factors are responsible for the occurrence of this ailment, e.g .:

1. medications taken (e.g. long-term therapy with non-steroidal drugs),
2. drinking alcohol,
3. stress,
4. diseases (viral liver diseases),
5. factors having a hepatotoxic effect,
6. hormonal disorders (especially in women),
7. consumption of water contaminated with heavy metals,
8. organic solvents,
9. caloric deficiencies,
10. contact with industrial paints and oils.

Some genetic mutations causing clinical symptoms show very little interaction and penetration.

Porphyria — objawy

Porphyria has many faces. In some, it is characterized by pale complexion, photophobia that allows only to leave the rooms at dusk and at night, changes in the skin – hence the comparison to vampirism. In others – with normal appearance – unidentified pain attacks that most doctors cannot explain. Even at the beginning of the last century, when the essence of the disease was not discovered, patients were actually treated like vampires …

Symptoms of porphyria may appear shortly after birth, but are more common in adolescents. Symptoms of porphyria are most often caused by sunlight (mainly UV), which accumulates energy in the porphyrin ring. Other factors are: alcohol, drugs, stress, and starvation.

Cutaneous porphyria

The most common symptoms of this type of porphyria are:

1. conjunctivitis,
2. the occurrence of blisters, scars and post-inflammatory discoloration,
3. the occurrence of erosions,
4. skin hypersensitivity,
5. blister scabs forming,
6. neoplasms formed at the site of skin lesions,
7. excessive hair – especially in women,
8. photosensitivity (especially in the elderly),
9. sometimes dark urine,
10. hypertrichosis around the cheeks and temples,
11. scleroderma-like lesions.

Additionally, porphyria may be accompanied by: diabetes mellitus, arterial hypertension and joint degeneration.

Clinical symptoms in the course of porphyria are a consequence of insufficient heme amount and the accumulation of unprocessed substrates of biochemical reactions. It should be emphasized that depending on the tissue, the effect of inappropriate amounts of components causes different symptoms. The most typical are:

1. hypersensitivity to sunlight,
2. the effects of patient exposure to UV rays.

Porphyria diagnosis

People suspected of having porphyria should contact a specialist in clinical biochemistry or a specialist dealing with metabolic errors as soon as possible. In patients with a recognized diagnosis, it is necessary to determine the triggering factor (also genetic). Equally important is the medical interview with the patient, during which the specialist should be informed about the medications taken, past infectious diseases and the stimulants used. Doctor after getting the results blood chemistry tests should choose the appropriate type of treatment and inform the doctor carefully about the type of porphyria he has been diagnosed with. In addition, the patient should be instructed how to monitor the course of treatment, what to avoid during treatment and how to respond to symptoms.

In addition to blood chemistry, fecal tests and tests for the presence of substrates of the porphyrin synthesis pathway are important in the differential diagnosis. Analysis of the fluorescence spectrum of the porphyrins contained in the plasma is also performed. Additional genetic tests are ordered in patients whose test results do not give a clear answer or if there is a suspicion that porphyria is hereditary. They are performed especially among young people in whom porphyria appeared relatively late and in the genetic history it has the character of a single event. The research determines the mutation and its possible inheritance.

Treatment of porphyria

Treatment of genetic porphyria is only symptomatic. It is impossible to completely cure congenital porphyria. In the case of a cutaneous disease, haeminine and haem arginate are administered, which reduce the synthesis of porphyrins. In addition, the goal is to reduce the level of iron in the body, thanks to which it is possible to completely eliminate the symptoms. On the other hand, in extreme cases of cutaneous porphyria, blood is released, which reduces the amount of iron.

In soothing the skin reaction to sunlight, β-carotene, N-acetylcysteine ​​and supplementation with vitamins C and E are used.

In acute hepatic porphyria, treatment is primarily aimed at relieving the symptoms of the disease. The patient should always be hospitalized. During therapy, heme arginate is administered intravenously to regulate iron levels. In patients with neurological symptoms, glucose is used, especially when the effectiveness of heme arginate decreases. An appropriate diet is also important, and in particularly dangerous cases – parenteral nutrition. Treatment for this type of porphyria can take up to several weeks.

Home treatment

It aims to alleviate symptoms using ad hoc methods. In people with skin porphyria, these may be wet compresses applied to the site of skin lesions.

Concomitant diseases, e.g. diabetes, are very often observed in patients with porphyria. In such people it is necessary to systematically control the blood sugar level. In addition, patients should constantly monitor:

1. blood pressure
2. the level of porphyrins in the blood and urine,
3. iron levels in the body
4. liver enzymes (the test allows to detect various abnormalities in its functioning),
5. the condition of existing skin changes (it may turn into neoplastic changes),
6. the liver by ultrasound (every year); it is associated with the frequent occurrence of liver cirrhosis in people with porphyria.

Can porphyria be avoided?

Prophylactic actions are much more difficult in people with porphyria of genetic origin. However, taking into account the fact that the disease is caused by many factors other than genetic, patients should adhere to the following rules:

1. absolute withdrawal from alcohol,
2. avoiding UV radiation and sunlight (you can, for example, cover the skin and protect the eyes),
3. implementation of an appropriate diet (they should not be slimming, low-calorie diets),
4. avoiding all kinds of mechanical injuries (the skin of patients with porphyria is very sensitive to mechanical factors),
5. eliminating the risk factors that may cause the disease from the environment.

Patients who require long-term pharmacotherapy should inform their physician about their disease.

The best hematologist