What is porphyria?
Porphyria is one of the rare diseases. Ultimately, it is due to a disorder that results in an inability of the body to produce the protein "heme". Because the protein, however, takes on important tasks, there are sometimes serious side effects. Thus, heme is an important component of the substance that turns the human blood red: hemoglobin. In order to produce the protein, there is a sequence of several steps.
For each process an enzyme is needed. In the context of the disease, however, there is a disorder at least on one level, so that the appropriate enzyme can not be produced and the following steps are obsolete. Instead, an accumulation of the precursors of heme, the so-called porphyrins, develops. These are increasingly excreted via stool and urine. Frequently, sufferers notice the disease only from the 30th to the 40th year of age. Generally, very few people get the defect.
The cause of the disease is thus in a defective enzyme. Overall, the production of heme occurs over eight stages. If even one is not handled optimally, porphyria is produced. Depending on which enzyme is defective, different precursors of the substance accumulate. In some patients, several disturbed enzymes can also be detected. In particular, two forms of porphyria are considered medically relevant: acute intermittent porphyria and chronic hepatic porphyria.
Thus, the disease can be acute or chronic. The acute form is a disorder of the third enzyme. The body is no longer able to handle the next steps, causing the formation of protein at that point to rest. In the chronic course, the fifth enzyme is defective. Porphyria is inherited in most cases.
Not all sufferers suffer from complaints: a large part does not even notice the defect. However, some factors can cause the symptoms in which the organism's need for heme increases. These include smoking, physical stress, intake of estrogen, alcohol abuse and increased iron levels.
Symptoms, complaints & signs
The symptoms that occur depend largely on whether it is an acute or chronic disease. Generally, the complaints vary. An acute porphyry can cause abdominal pain, nausea and vomiting. Patients report constipation, abnormal sensation, muscle weakness, sleep problems, and depressive moods. The complaints are not always noticeable. Instead, they occur in the form of spurts, which manifest themselves at different intervals.
In women, it can be observed that the symptoms accumulate before menstruation. Furthermore, certain factors contribute to making the symptoms noticeable. Some medications, infections and alcohol are responsible for the sudden onset of symptoms. Typical for patients with chronic porphyria is photosensitivity. The skin reacts with blisters and scarring. In general, the skin tends to injury, pigmentation and a stronger hair. In most cases, the chronic course is accompanied by other diseases such as diabetes and gastric ulcers.
Diagnosis & disease course
The diagnosis is usually made by examining the blood as soon as the doctor has gained a corresponding suspicion through a detailed conversation. In the blood, the porphyrins and any precursors can be detected. Furthermore, stool and urine samples provide insights. Some patients also undergo genetic testing.
Due to the porphyria sufferers suffer from different complaints, which, however, all have a negative impact on the quality of life of the person affected. In most cases, however, this disease causes nausea and vomiting. Furthermore, those affected suffer from pain in the stomach and stomach as well as constipation.
Even sensations of sensation or muscle weakness can occur through the porphyria and thereby complicate the everyday life of the patient. Most sufferers continue to suffer from sleep disorders or depression. As a rule, the complaints of porphyria do not occur permanently, but only in spurts. For this reason, an early diagnosis in many cases is not possible, so that the treatment of the disease can be delayed first.
Furthermore, those affected are sensitive to light, so that bubbles form on the skin. Also ulcers in the stomach or diabetes can occur. The treatment of porphyria is done with the help of medication. Likewise, in severe cases, the transplantation of a liver is necessary. Whether the patient's life expectancy is reduced by the disease can not be universally predicted.
When should you go to the doctor?
As a rule, porphyria should always be treated by a doctor. This disease can limit the life of the person extremely and it usually does not come to a self-healing of the disease. An early diagnosis and treatment have a very positive effect on the further course of the disease and can prevent further complications.
As a rule, a doctor should be consulted for porphyria if the patient suffers from severe abdominal pain or from vomiting and nausea. Especially with a long-term occurrence of these symptoms, the visit to the doctor is necessary. Often, depression or other mental illnesses associated with sleep disorders may indicate the condition and should be investigated. Those affected are often sensitive to light and are often irritated.
The diagnosis of porphyria can usually be made by an internist or by a general practitioner. The further treatment, however, depends on the exact causes of the disease and is therefore carried out by a specialist. Whether it comes to a reduced life expectancy can not be predicted in general.
Therapy & Treatment
The therapy is based primarily on the prevention of all triggers of porphyria. For example, women should do without birth control pills and use hormones instead. Other medications that may be responsible for a boost should be discontinued or replaced with an alternative if possible. In order to bring about no health damage, the exact action with the medicines should be clarified with a doctor.
It is also important that patients try to reduce physical and emotional stress. If it is a more serious course, however, further action must be taken. In an acute episode, glucose infusions help to normalize the synthesis of the protein. If paralysis or other life-threatening symptoms appear as a result of the condition, the antidote may aid hemarginate.
Moreover, with the chronic course, phlebotomy treatment can provide relief. In this way it is possible to extract an excess of iron. Some patients also have a positive response to chloroquine, which has come on the market as a malaria drug. In extreme cases, acute porphyria may require liver transplantation. In some chronic patients a stem cell transplantation becomes necessary. Furthermore, direct sunlight should be avoided, for example by using sunscreens with a high sun protection factor.
The disease can not be prevented. However, there are measures that can prevent the occurrence of spurts. Accordingly, sufferers should refrain from alcohol and cigarettes and go out starvation diets with a low calorie intake. With existing infections and other illnesses a physician is to be visited swiftly, so that these end quickly. If the stress can not be reduced, at least more relaxation should be integrated into everyday life.
Since the disease is often accompanied by depression that requires psychotherapeutic treatment, follow-up care is advised. Porphyria usually runs in spurts and the patient can by a proper life adjustment itself make sure to avoid recurring episodes.
If the liver is affected and already damaged, alcohol should definitely be avoided. Taking medication may only be done with medical supervision. A healthy lifestyle can have a positive effect on the disease. Patients should not smoke, move a lot, have a regular day's sleep with enough sleep and a healthy diet.
Patients with porphyria should refrain from strict diets that can trigger acute relapses and feed as much fiber as possible with plenty of vegetables and fresh fruit. Sugar and fats should be kept as low as possible. Stress relief exercises such as yoga or progressive muscle relaxation according to Jacobson help the patient against possible stress.
In some forms of porphyria, it is important to avoid extreme exposure to sunlight to prevent relapses. This support appropriate clothing and sunscreens with a high SPF. Many people also use regular bloodletting to flush out the porphyrin accumulated in the liver.
You can do that yourself
This rare condition is a great mental burden for the affected patients. Often, they also have a long history of suffering before the diagnosis could be made. Since depression often accompanies porphyria, additional psychotherapeutic treatment is recommended.
Depending on the clinical picture, of course, all triggers should be avoided, which could cause a further boost. If the liver is damaged, no alcohol should be drunk and medications should be taken only after consultation with the doctor. Which drugs are allowed and other interesting information can be found on the self-help site EPP Germany (www.epp-deutschland.de). This is also true for people who are ill with another form of porphyria.
In order not to start the disease unnecessarily, those affected should not smoke, avoid as much stress as possible and not take any hormones. Instead, they should be careful to lead a regular life with enough sleep and lots of exercise. Relaxation exercises help with stress reduction. Yoga and progressive muscle relaxation according to Jacobson are recommended here. Rigorous diets should not be taken by patients with porphyria, but should feed as healthy as possible on fresh, fiber-rich food with low fat and sugar. In addition to the medical measures, some patients also respond well to bloodletting. The idea is to rid the body of excess iron.