Porphyria is a term used for a variety of disorders that affect a substance called heme. Heme is a protein-rich molecule in the blood, or, to be precise, in hemoglobin, which carries the oxygen throughout the body, where it is needed.
When there is something wrong with the production of heme, it leads to the buildup of chemicals called porphyrins, causing porphyria. Production of heme is a complex process and many different factors can contribute to abnormalities of that process, which means that there are several different types of porphyria.
Main types of porphyria
The two main types of porphyria are acute porphyria and cutaneous porphyria.
Acute porphyria and its subtypes are most often inherited and they affect the nervous system. The symptoms, which are usually sporadic, include abdominal pain, cramps, vomiting, tingling, numbness and mental problems.
Cutaneous porphyrias affect the skin, causing blisters, rash, dry and brittle skin that damages easily, pigmentation changes, redness and other skin issues, especially due to sun exposure. The most effective way to prevent and relieve the symptoms of cutaneous porphyria and its subtypes is to avoid exposure to sunlight.
A subtype of cutaneous porphyria is porphyria cutanea tarda, which is a non-inherited condition characterized by changes in production of liver enzymes that produce heme. This leads to cutaneous, rather than acute symptoms of porphyria.
Both acute and cutaneous porphyria are incurable, lifelong conditions. However, the severity of the symptoms is not always the same and it ranges from mild and almost undetected to moderate and severe. Symptoms can be triggered by a lot of different factors, depending on the precise type. The triggers may include sunlight, medications, stress, hormones, smoking, alcohol consumption and such.
Sometimes acute porphyria can cause very serious symptoms that are potentially life-threatening and require urgent medical attention, especially if they involve paralysis of the muscles that control breathing.
Symptoms of acute porphyria
Acute porphyria symptoms are associated with the nervous system and they can involve abdominal or mental symptoms. Abdominal symptoms may include pain, cramps, nausea, vomiting, constipation and bloating. Mental symptoms can be quite serious, especially if involving anxiety, dizziness, hallucinations and seizures. Severe anxiety, seizures and muscle paralysis, which are all mental symptoms of acute porphyria, can be very dangerous and should be taken seriously.
It is necessary to seek medical care if symptoms like severe mood and personality changes, seizures and hallucinations appear.
Other symptoms of acute porphyria can also include fever, behavior problems or personality changes, liver problems, difficulty breathing, numbness and tingling sensation.