Porphyria is a grouping of various metabolic diseases. Their course is highly variable. While some diseases cause only mild symptoms, others can be life-threatening. Because of the numerous manifestations, the correct diagnosis is often made late.
What is porphyria?
Porphyria is one of the rare diseases. Ultimately, it is based on a disorder that results in an inability of the body to produce the protein “heme.” However, because the protein performs important tasks, sometimes severe side effects occur. For example, heme is an important component of the substance that colors human blood red: Hemoglobin. In order to produce the protein, there is a sequence of several steps. An enzyme is required for each process. In the context of the disease, however, there is a defect at least at one level, so that the appropriate enzyme cannot be produced and the following steps are invalid. Instead, there is an accumulation of the precursors of heme, the so-called porphyrins. These are increasingly excreted in the stool and urine. Affected individuals often do not notice the disease until they are between 30 and 40 years old. In general, very few people develop the defect.
Causes
Thus, the cause of the disease is a defective enzyme. In total, the production of heme occurs through eight steps. If even one is not processed optimally, porphyria results. Depending on which enzyme is defective, different precursors of the substance accumulate. In some patients, moreover, several disturbed enzymes can be detected. Two main forms of porphyria are considered medically relevant: acute intermittent porphyria and chronic hepatic porphyria. Thus, the disease can be acute or chronic. In the acute form, it is a disorder of the third enzyme. The body is no longer able to carry out the next steps, so the formation of the protein at this point comes to a halt. In the chronic course, the fifth enzyme is defective. Porphyria is inherited in most cases. Not all of those affected suffer from symptoms: a large proportion do not even notice the defect. However, some factors can cause the symptoms by increasing the organism’s need for heme. These include smoking, physical stress, estrogen intake, alcohol abuse, and elevated iron levels.
Symptoms, complaints, and signs
The symptoms that occur depend largely on whether the condition is acute or chronic. In general, the complaints vary. For example, acute porphyria may cause abdominal pain, nausea, and vomiting. Patients report constipation, sensory disturbances, muscle weakness, sleep problems and depressive moods. The symptoms are not always noticeable. Instead, they occur in the form of episodes that manifest themselves at varying intervals. In women, it can be observed that the symptoms accumulate before menstruation. Furthermore, certain factors contribute to the symptoms becoming noticeable. Some medications, infections and alcohol are responsible for the sudden appearance of symptoms. Typical for patients with chronic porphyria is a sensitivity to light. The skin reacts with blisters and scarring. In general, the skin tends to lesions, pigmentation and increased hairiness. Most often, the chronic course is accompanied by other diseases such as diabetes and gastric ulcers.
Diagnosis and course of the disease
Diagnosis is usually made by examination of the blood, once the physician has gained a corresponding suspicion through a detailed interview. In the blood, the porphyrins as well as any precursors can be determined. Furthermore, stool and urine samples provide information. In some patients, genetic testing is also performed.
Complications
As a result of porphyria, affected individuals suffer from a variety of symptoms, but all have a negative impact on the quality of life of the affected individual. In most cases, however, this disease causes nausea and vomiting. Furthermore, those affected suffer from pain in the abdomen and stomach and also constipation. Also, insensitivity or muscle weakness can occur due to porphyria, making the patient’s daily life more difficult.Most of those affected also continue to suffer from sleep problems or depression. As a rule, the symptoms of porphyria do not occur permanently, but only in episodes. For this reason, early diagnosis is not possible in many cases, so that treatment of the disease can also be delayed. Furthermore, those affected are sensitive to light, so that blisters form on the skin. Ulcers in the stomach or diabetes can also occur. The treatment of porphyria is carried out with the help of medication. Likewise, in severe cases, transplantation of a liver is necessary. Whether there is a reduction in life expectancy in the patient due to the disease cannot be universally predicted.
When should you see a doctor?
As a rule, porphyria should always be treated by a physician. This disease can be extremely limiting to the life of the affected person, and there is usually no self-healing of the disease. 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 in the case of porphyria if the patient suffers from severe abdominal pain or vomiting and nausea. Especially in case of a long-term occurrence of these complaints, the visit to the doctor is necessary. Often, depression or other psychological complaints associated with sleep problems may also indicate the disease and should be investigated. Those affected are often sensitive to light and are not infrequently irritable. The diagnosis of porphyria can usually be made by an internist or by a general practitioner. However, further treatment depends on the exact causes of the disease and is therefore carried out by a specialist. It cannot be generally predicted whether there will be a reduced life expectancy.
Treatment and therapy
Therapy is based primarily on avoidance of all triggers of porphyria. For example, women should avoid birth control pills and instead use contraception without hormones. Other medications that may be responsible for a relapse should be discontinued or replaced with an alternative, if possible. In order not to cause any damage to health, the exact course of action with the medication should be clarified with a doctor. Furthermore, it is important that patients try to limit physical and emotional stress. If it is a more severe course, however, further measures must be used. For example, glucose infusions help to normalize the synthesis of protein during an acute episode. If paralysis or other life-threatening symptoms appear due to the disease, the antidote hemarginate can have a supportive effect. In addition, in the chronic course, phlebotomy treatment can provide relief. In this way, it is possible to withdraw an excess of iron. Some patients also respond positively to chloroquine, which actually came onto the market as an antimalarial. In extreme cases, acute porphyria requires liver transplantation. In some chronically ill patients, stem cell transplantation becomes necessary. Furthermore, direct exposure to sunlight should be avoided, for example by using sunscreens with a high sun protection factor.
Prevention
The disease cannot be prevented. However, measures exist that can prevent the occurrence of relapses. Accordingly, affected persons should refrain from alcohol and cigarettes and avoid starvation diets with a low calorie intake. In the case of existing infections and other illnesses, a doctor should be consulted quickly to ensure that they subside rapidly. If the stress cannot be reduced, at least more relaxation should be integrated into everyday life.
Aftercare
Because the disease is often accompanied by depression that requires psychotherapeutic treatment, follow-up care is appropriate. Porphyria usually progresses in relapses, and patients can take care of themselves to avoid recurrent relapses by making appropriate lifestyle adjustments. If the liver is affected and already damaged, alcohol should be avoided at all costs. Medication should only be taken under medical supervision. A healthy lifestyle can have a positive effect on the disease. Patients should not smoke, get plenty of exercise, lead a regular daily routine with sufficient sleep and eat a healthy diet.Patients with porphyria should refrain from strict diets, which can trigger acute attacks, and eat a diet as rich in fiber as possible, with plenty of vegetables and fresh fruit. Sugar and fats should be kept to a minimum. Relaxation exercises such as yoga or Jacobson’s Progressive Muscle Relaxation can help the patient to counteract possible stress. In some forms of porphyria, it is important to avoid extreme exposure to the sun in order to prevent a renewed attack. Appropriate clothing and sun creams with a high sun protection factor can help. Many patients are also helped by regular phlebotomies to flush out porphyrin that has accumulated in the liver.
Here’s what you can do yourself
This rare disease is a great psychological burden for affected patients. Often, they also have a long history of suffering behind them before the diagnosis could be made with certainty. Moreover, since depression often accompanies porphyria, additional psychotherapeutic treatment is advised. Depending on the clinical picture, all triggers that could cause a further attack should of course be avoided. If the liver is damaged, alcohol should not be drunk and medication should only be taken after consultation with the doctor. Which medications are permitted and other interesting information can be found on the self-help site EPP Germany (www.epp-deutschland.de). This also applies to people who have another form of porphyria. In order not to inflame the disease unnecessarily, those affected should also not smoke, avoid stress as much as possible and not take hormones. Instead, they should make sure to lead a regular life with sufficient sleep and plenty of exercise. Relaxation exercises help to reduce stress. Yoga and Jacobson’s progressive muscle relaxation are recommended here. Rigorous diets should not be followed by patients with porphyria; instead, they should eat as healthy a diet as possible with fresh, high-fiber foods that are low in fat and sugar. In addition to medical measures, some patients respond well to bloodletting. The idea behind this is to rid the body of excess iron.
