Porphyria refers to a group of genetic disorders that can affect the nervous system or the skin.
This article explains what porphyria is, how it is diagnosed, and ways to manage and prevent its symptoms.
Porphyria is a group of relatively rare metabolic disorders.
It is an inherited condition, meaning that an abnormal gene is passed on from one or both parents. It is not contagious and cannot develop through any other means.
Porphyria affects blood composition. All forms of porphyria slow the production of heme, which is used in hemoglobin and other chemicals that transfer oxygen through the bloodstream.
Heme is made from porphyrin, but people with porphyria are unable to fully convert porphyrin into heme. This means that porphyrin can accumulate in tissues and the blood, causing problems in the nervous system, skin, and other organs.
There are two main types of porphyria: acute and cutaneous.
Acute porphyria primarily affects the nervous system.
This type of the condition causes damage to nerve cells due to the build up of raw chemicals that are typically used to make heme.
Cutaneous porphyria affects the skin and does not typically damage nerve cells.
In this type of porphyria, the build up of porphyrin causes oversensitivity to sunlight.
Cutaneous porphyria typically has less severe symptoms than acute porphyria does, but attacks tend to occur more often.
One type of cutaneous porphyria, porphyria cutanea tarda (PCT), can also be triggered by environmental factors, such as heavy alcohol consumption or iron supplements. For this reason, PCT is the most common form of porphyria.
Acute porphyria attacks can be severe and last up to 1 or 2 weeks.
Symptoms of acute porphyria may include:
- pain in the abdomen, chest, limbs, or back
- increased heart rate and blood pressure
- nausea and vomiting
- red or brown urine
- impaired movement of the limbs
- electrolyte imbalances
Attacks of cutaneous porphyria typically occur as a result of exposure to sunlight and can last several days.
Symptoms of cutaneous porphyria can include:
- burning pain on the skin
- redness and swelling on the skin
- red or brown urine
- lasting blisters
Both forms of porphyria can cause long-term complications, including:
Porphyria is usually diagnosed using blood, urine, or stool samples. In some cases, doctors may use CT scans or X-rays to help make a diagnosis.
Diagnosis is most accurate around the time of a porphyria attack, so it can take several tests to determine the type of porphyria.
It is common for a person to carry a gene for porphyria and never experience any symptoms associated with the disorder. In other cases, multiple attacks can occur, which may trigger long-term complications.
An early diagnosis is essential for handling the disorder and avoiding complications.
Unfortunately, there is no cure for porphyria, but it is possible to manage its symptoms.
Effective management of porphyria depends on which type a person has.
Ways to manage acute porphyria include:
- prescription or over-the-counter medications for pain, nausea, and vomiting
- intravenous glucose injections
- injections of hemin to reduce the production of porphyrin
Ways to manage cutaneous porphyria include:
- the removal of blood to reduce iron levels
- medications that absorb excess porphyrins
- medications that reduce skin sensitivity to sunlight
Since it is genetic, there is no way that a person can prevent porphyria from developing.
However, understanding certain environmental triggers can reduce the risk of an attack.
- certain antibiotics or medications
- excessive exposure to sunlight
- heavy consumption of alcohol
- use of recreational drugs
- dieting or fasting
- menstrual hormones
- excess iron levels
Triggers will vary from person to person. It may take time for an individual to discover their triggers for an attack.