Porphyria is a combination of various metabolic diseases. Their course is very different. While some diseases cause only mild symptoms, others can be life-threatening. Due to the numerous manifestations, the correct diagnosis is often made late.
What is porphyria?
Porphyria is one of the rare diseases. Ultimately, it is due to a disorder that results in the body’s inability to produce the protein “heme”. However, because the protein takes on important tasks, there are sometimes serious side effects. Heme is an important component of the substance that colors human blood red: hemoglobin. In order to be able to produce the protein, there is a sequence of several steps. See howsmb for LKS Definition and Meaning.
An enzyme is required for each process. Within the framework of the disease, however, there is a disorder at least on one level, so that the appropriate enzyme cannot be produced and the subsequent steps are no longer necessary. Instead, an accumulation of the precursors of heme, the so-called porphyrins, develops. These are increasingly excreted in the stool and urine. Those affected often only notice the disease from the 30th to 40th year of life. In general, very few people develop the defect.
The cause of the disease lies in a defective enzyme. Altogether, heme is produced in eight stages. If even one is not handled optimally, porphyria develops. Depending on which enzyme is defective, different precursors of the substance accumulate. Several defective enzymes can also be identified in some patients. Two forms of porphyria are considered to be medically relevant: acute intermittent porphyria and chronic hepatic porphyria.
The disease can be acute or chronic. The acute form is a disorder of the third enzyme. The body is no longer able to carry out the next steps, which means that 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 those affected suffer from symptoms: a large proportion do not even notice the defect. However, some factors can provoke the symptoms by increasing the body’s need for heme. These include smoking, physical stress, estrogen intake, alcohol abuse, and elevated iron levels.
Symptoms, Ailments & Signs
The symptoms that occur depend largely on whether the disease is acute or chronic. In general, the complaints vary. Acute porhyria can cause abdominal pain, nausea and vomiting. Patients report constipation, discomfort, muscle weakness, sleep problems and depressive moods. The symptoms are not always noticeable. Instead, they appear in the form of flare-ups that occur at different intervals.
In women, symptoms can be observed to accumulate before menstruation. Furthermore, certain factors contribute to the fact that the symptoms become noticeable. Some medications, infections, and alcohol are responsible for the sudden onset of symptoms. Sensitivity to light is typical of patients with chronic porphyria. The skin reacts with blisters and scarring. In general, the skin is prone to injuries, pigmentation and increased hairiness. In most cases, the chronic course is accompanied by other diseases such as diabetes and stomach ulcers.
Diagnosis & course of disease
The diagnosis is usually made by examining the blood as soon as the doctor has gained a corresponding suspicion through a detailed discussion. The porphyrins and possible precursors can be determined in the blood. Furthermore, stool and urine samples provide insights. Genetic tests are also performed on some patients.
Porphyria causes those affected to suffer from various symptoms, which, however, all have a negative effect on the patient’s quality of life. In most cases, however, this disease causes nausea and vomiting. Those affected also suffer from pain in the abdomen and stomach and also from constipation.
The porphyria can also cause discomfort or muscle weakness, making everyday life difficult for the patient. Most of those affected continue to suffer from insomnia or depression. As a rule, the symptoms of porphyria do not occur permanently, but only in phases. For this reason, an early diagnosis is not possible in many cases, so that the treatment of the disease can only be delayed.
Furthermore, those affected are sensitive to light, so that blisters form on the skin. Stomach ulcers or diabetes can also occur. Treatment of porphyria is carried out with the help of drugs. Liver transplantation is also necessary in severe cases. It cannot be universally predicted whether the disease will lead to a reduction in the life expectancy of the patient.
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 those affected extremely and the disease usually does not heal itself. 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. A visit to the doctor is particularly important if these symptoms occur over a long period of time. Depression or other psychological complaints combined with sleep problems can often also indicate the disease and should be examined. Those affected often react sensitively to light and are often irritated.
Porphyria can usually be diagnosed 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. Whether life expectancy will be reduced cannot generally be predicted.
Treatment & Therapy
Therapy is primarily based on avoiding all triggers of porphyria. For example, women should not take the birth control pill and instead use contraception without hormones. Other drugs that may be responsible for a flare-up should be discontinued or replaced with an alternative, if possible. In order not to cause any damage to health, the exact action with the medication should be clarified with a doctor.
It is also important that patients try to limit physical and mental stress. However, if the course is more severe, further measures must be taken. Glucose infusions help to normalize protein synthesis during an acute attack. If paralysis or other life-threatening symptoms appear due to the disease, the antidote hemarginate can have a supportive effect.
Bloodletting treatment can also provide relief in the chronic course. In this way it is possible to remove excess iron. Some patients also respond positively to chloroquine, which actually came onto the market as an antimalarial drug. In extreme cases, acute porphyria requires a liver transplant. Some chronically ill patients require a stem cell transplant. Furthermore, direct sunlight should be avoided, for example by using sunscreen with a high sun protection factor.
The disease cannot be prevented. However, there are measures that can prevent flare-ups from occurring. Accordingly, those affected should avoid alcohol and cigarettes and avoid starvation diets with a low calorie intake. In the case of existing infections and other illnesses, a doctor must be consulted quickly so that they subside quickly. If the stress cannot 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 appropriate. Porphyria usually progresses in flares and the patient can make appropriate lifestyle adjustments to avoid recurring flare-ups.
If the liver is affected and already damaged, alcohol should definitely be avoided. Medication may only be taken under medical supervision. A healthy lifestyle can have a positive effect on the disease. Patients should not smoke, exercise a lot, lead a regular everyday life with enough sleep and eat healthily.
People suffering from porphyria should refrain from strict diets, which can trigger acute flare-ups, and eat as much fiber as possible with lots of vegetables and fresh fruit. Sugar and fats should be kept to a minimum. Relaxation exercises such as yoga or progressive muscle relaxation according to Jacobson help the patient against possible stress.
With some forms of porphyria, avoiding extreme sun exposure is important to prevent recurrence. Appropriate clothing and sunscreen with a high sun protection factor will help. Regular bloodletting also helps many patients to flush out the porphyrin that has built up in the liver.
You can do that yourself
This rare disease is a major psychological burden for the affected patients. They often have a long history of suffering behind them before the diagnosis could be made with certainty. Since depression often accompanies porphyria, additional psychotherapeutic treatment is advisable.
Depending on the clinical picture, all triggers that could cause another flare-up should of course be avoided. If the liver is damaged, no alcohol should 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 EPP Germany self-help website (www.epp-deutschland.de). This also applies to people suffering from another form of porphyria.
In order not to fuel the disease unnecessarily, those affected should also not smoke, avoid any stress and not take any hormones. Instead, they should make sure they lead a regular life with enough sleep and plenty of exercise. Relaxation exercises help reduce stress. Yoga and progressive muscle relaxation according to Jacobson are recommended here. Patients with porphyria should not stick to rigorous diets, but should eat as healthily as possible with fresh, high-fiber food that is low in fat and sugar. In addition to the medical measures, some patients also respond well to bloodletting. The idea behind this is to rid the body of excess iron.