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Porphyrias are rare metabolic disorders caused by abnormal enzyme activity that affects the way the body produces heme (a substance that is vital to the function of red blood cells, liver enzymes and numerous metabolic processes). This leads to an accumulation of porphyrins, chemical compounds that occur naturally in the body but can cause problems when levels become very high.
There are numerous different types of porphyria, which can be sorted into two broad categories: acute porphyrias and cutaneous porphyrias. Acute porphyrias typically affect the nervous system and organs in the gastrointestinal system, while cutaneous porphyrias affect the skin. However, some porphyrias—variegate porphyria and hereditary coproporphyria—can cause skin, neurological and gastrointestinal symptoms. While the severity of symptoms varies from person to person, porphyrias have the potential to cause serious complications, and can even be life threatening.
While there is no cure for porphyria, there are effective diagnostic tests for these disorders that can differentiate between different types. There are also effective treatments available.
Managing porphyria
The first step in managing porphyria is to seek treatment from a healthcare provider. Because these disorders are rare, patients need evaluation and treatment through a specialist with experience treating porphyria. The American Porphyria Foundation recommends working with a porphyria specialist or porphyria clinic. Care may also be provided by a hematologist or gastroenterologist in consultation with a porphyria specialist.
Treatment will depend on the specific type of porphyria a person has and the severity of their symptoms. There are several therapies that can be used to reduce symptoms and prevent complications when attacks occur. Patients may also need treatments to address the symptoms that result from attacks—for example, pain, numbness and other neurological problems that can result from acute porphyrias, or skin lesions that result from a cutaneous porphyria.
Preventing attacks from occurring in the first place is a major focus of managing porphyria. One of the most effective ways to prevent attacks is by avoiding triggers.
Common triggers
Triggers are substances or events that precipitate an attack or porphyria symptoms. While triggers can vary from person to person—and also vary depending on the type of porphyria a person has—there are several porphyria triggers that are common. These include:
- Alcohol. People with porphyria are advised to avoid alcohol consumption, especially excessive alcohol consumption.
- Smoking. Cigarette smoking is considered a risk factor for porphyria. It also increases your risk of many other health conditions. It is also advised to avoid smoking marijuana.
- Dieting and fasting. While maintaining a healthy weight is important to overall health, people with porphyria are advised to avoid fasting, caloric restriction and low-carbohydrate diets, all which may trigger symptoms. If you need to lose weight, talk to your healthcare provider to create a plan for eating, nutrition and exercise.
- Stress. This includes psychological stress, as well as events that put stress on the body, such as illnesses, infections and surgery.
- Chronic infections. Such as HIV and Hep C.
- Menstruation. Hormonal changes during the menstrual cycle may trigger porphyria symptoms, though there is treatment available to help prevent this trigger.
- Chemicals. Such as exposure to industrial chemicals.
- Sun exposure. Patients who have a type of cutaneous porphyria will need to take steps to minimize their exposure to sunlight.
Medications
A number of medications are also known to trigger attacks in some types of porphyria. These include:
- Birth control pills and medications containing estrogen
- Barbiturates, sedatives and tranquilizers
- Diazepam, which is prescribed to control seizures
- Phenytoin, another anti-seizure medication
- Ketorolac, a prescription non-steroid anti-inflammatory drug
- Sulfonamides, which include certain antibiotics and also some treatments for ulcerative colitis
Ask your healthcare provider about medicines that are safe and medicines that may trigger symptoms. Because of the variety of drugs that can act as porphyria triggers, it is important that every healthcare provider you are seeing is aware that you have porphyria, and that your healthcare providers consult the website of the American Porphyria Foundation (or the European Porphyria Network if in Europe).
