The erythropoietic protoporphyria (EPP) is a rare inherited disease that is counted to the porphyrias. Protoporphyrin accumulates in the blood and liver as a precursor to heme. If the liver is involved, the disease can be fatal.
What is erythropoietic protoporphyria
According to psyknowhow.com, erythropoietic protoporphyria is characterized by an accumulation of protoporphyrin in the erythrocytes. It is a very rare hereditary disease belonging to the group of porphyrias. It occurs with a frequency of 1 in 100,000 in newborns. In EPP, the chelation of an iron (II) ion with protoporphyrin is disturbed. This causes the protoporphyrin to accumulate in the blood vessels and partly in the liver. It is responsible for the strong light sensitivity of those affected.
Most patients experience burning and itching of the skin when exposed to sunlight without any visible skin changes. Since nothing is visible, those affected usually do not believe the complaints. There is a high pressure to adapt, which leads to the pain being hidden. The first symptoms appear between the first and the tenth year of life. The liver can also be involved in ten percent of the cases.
Causes
Erythropoietic protoporphyria is caused by the decreased functionality of the enzyme ferrochelatase. Ferrochelatase is responsible for the incorporation of iron (II) ions into the porphyrin ring of protoporphyrin. This creates the red blood pigment heme, which is responsible for transporting oxygen in the erythrocytes.
However, the formation of heme occurs only inadequately, with protoporphyrin simultaneously accumulating in the erythrocytes, in the blood vessels and in some cases in the liver. The enriched protoporphyrin absorbs sunlight in the wavelength range from 400 to 410 nanometers.
When the energy is released, oxygen radicals are generated that can attack the affected tissue. The result is itching and burning of the exposed skin. The reduced activity of the enzyme ferrochelatase is caused by a mutation in the gene responsible for it. The inheritance of the disease is autosomal dominant. However, there are also cases of autosomal recessive inheritance. A mutation of a gene on the sex-related X chromosome has been found in two cases so far.
Inheritance does not always follow the typical pattern of dominant / recessive inheritance. So far, around 70 mutations have been described that can cause EPP. The gene for ferrochelatase on the long arm of chromosome 18 is said to be mainly affected. However, other changes that affect the heme biosynthesis system can also lead to erythropoietic protoporphyria.
Symptoms, ailments & signs
Erythropoietic protoporphyria often manifests itself after just a few minutes of solar radiation through severe pain in the exposed areas. The tolerance limit differs from person to person. It depends on how much protoporphyrin is stored. For some patients, artificial light sources are already dangerous.
In the acute phase, however, there are no externally visible symptoms. Those affected only complain of severe and stabbing pain in the exposed areas. At the same time, patients also become very sensitive to touch.
Every tiny stimulus such as a draft or cold is perceived as extremely painful. According to patients, it feels like hot needles piercing the skin or burning ants run under the skin. If you are forced to stay in the sunlight for a longer period of time, this can lead to swelling, which only occurs after a delay of several hours. At the same time, the skin turns deep red. This condition can last for several weeks.
Permanent changes in the skin can manifest themselves in waxy scars, deviating pigmentation or coarsening of the relief of the skin. Ten percent of those affected can experience life-threatening liver changes if the liver is unable to adequately break down porphyrias. In these cases, protoporphyrin is also stored in the liver, which ultimately leads to life-threatening cirrhosis of the liver.
Diagnosis
Due to the rarity of erythropoietic protoporphyria, diagnosis of the disease is often made very late. On average, it takes 16 years after the onset of symptoms. Outsiders often do not take the children’s complaints seriously, especially since the disease is not very well known in general medicine either. A definite diagnosis can only be made through a blood test for porphyrins.
Complications
If the liver is also affected in the disease, death in most cases if treatment is not initiated. In most cases, relatively severe pain occurs on the skin after a very short exposure to the sun. The pain can become unbearable, although artificial light can also lead to pain for many people.
As a result, the everyday life of the patient is extremely limited and the quality of life decreases considerably as a result of the disease. It is no longer possible for those affected to be outdoors in daylight without pain and without wearing clothing. Even light touches can cause severe pain, which can lead to sleep problems.
The irradiated areas also show swelling and redness. Often these are also pigmented differently, so that there are aesthetic complaints. There is no cure for the disease, so the person concerned must avoid direct sunlight for their entire life. In severe cases, a liver transplant may be necessary to prevent the patient from fatality. Furthermore, the person concerned has to stay in dark and cow rooms, which has an extremely negative effect on the psyche and quality of life.
When should you go to the doctor?
In any case, this disease must be examined and treated by a doctor. Self-healing does not occur and the disease can lead to serious and, above all, dangerous complaints of the skin or internal organs. As a rule, a visit to the doctor is necessary if the person concerned suffers from severe pain after exposure to direct sunlight. Artificial light sources can also lead to these symptoms in some sufferers. The pain is burning or stabbing.
Many of those affected are also very sensitive to touch. This symptom can also indicate the disease and should be investigated. Swelling or discoloration of the skin also occurs. In addition to the symptoms, many sufferers also suffer from unusual pigmentation. To avoid damage to the liver, a doctor should always be consulted. Diagnosis of the disease can be done by a dermatologist or by a general practitioner. Since it cannot be cured, the person affected must protect himself from direct light exposure to avoid the symptoms. Furthermore, those affected are dependent on regular controls of their internal organs.
Treatment & Therapy
There is no cure for erythropoietic protoporphyria. The most important therapy when symptoms occur is that the patient stays in cool and dark rooms for some time. Then the symptoms will subside on their own. Longer exposure to sunlight should definitely be avoided as much as possible. Furthermore, liver and blood values should be checked constantly.
Liver transplantation may be required if the liver has advanced cirrhosis. Psychological support is often recommended as an accompanying measure, as the patient’s long path of suffering and social pressures can lead to severe restrictions in the quality of life. Life expectancy is normal when the liver is not involved.
Outlook & forecast
Since this disease is a hereditary disease, no causal, but only purely symptomatic treatment can be used. A complete cure cannot be achieved, so that the person affected suffers from the symptoms of the disease for his entire life.
If the disease also affects the liver, it can lead to death. The patient needs to cool down and go to dark rooms to relieve the discomfort. Regular blood tests are also necessary, as the liver must be monitored continuously. The everyday life of the person concerned is therefore significantly restricted.
If the disease is left completely untreated, the patient will usually die. The quality of life is generally severely restricted. In some cases, a liver transplant is also necessary to relieve the symptoms. If the liver is not affected by the disease, life expectancy is usually not reduced.
In some cases it can also lead to psychological complaints or depressive moods, since the patients cannot participate in everyday life and are therefore excluded from many social areas.
Prevention
Erythropoietic protoporphyria cannot be prevented because the disease is genetic. However, consistently avoiding sunlight can prevent symptoms from occurring. According to some reports, the symptoms could be prevented by giving high doses of beta-carotene. However, the effect has not been proven. Sunscreen with a high sun protection factor in the UV-A range is recommended as light protection.
Aftercare
Since this disease is hereditary, it cannot be treated causally, but only symptomatically. A complete cure cannot therefore come about either, so that the person affected is primarily dependent on an early and rapid diagnosis. Self-healing cannot occur either.
If the person concerned wishes to have children, genetic counseling and testing can be useful. This may prevent the disease from being passed on to descendants. If there is no treatment for this disease, it can, in the worst case, lead to death. With this disease, the person affected should stay in cool and dark rooms.
This is the only way to prevent the complaints and complications. Further treatment or follow-up measures are not possible. If the damage is severe, a liver transplant may be necessary. After such a transplant, the person concerned should take it easy and rest. The liver should be particularly spared. In most cases, this disease results in a reduced life expectancy for those affected.
You can do that yourself
Sick people have to learn to talk openly about their illness. Since their complaints are usually not visible, the patient’s credibility is often questioned by relatives or other people. Through their own appearance and the form of communication, the sick person can still make himself heard and should not be dissuaded even if other people have doubts. It is helpful to point out the symptoms again and again and to ask for medical assistance.
Erythropoietic protoporphyria is shown by an increased sensitivity to light. The person affected can therefore protect themselves comprehensively against the influence of light in everyday life to alleviate their symptoms. Wearing clothing that covers as many parts of the body as possible and the use of accessories such as hats, caps or scarves are particularly recommended. Since the disease is associated with severe pain, sunshades have also proven themselves in many patients in order to be able to protect the skin areas on the face well. A long stay in the open air during the day is not recommended.
Nevertheless, to maintain the quality of life, enough leisure activities should take place that bring variety and increase the joy of life. Adequate oxygen supply must also be ensured, as it is important for maintaining good health.