Porphyria is defined as a group of inherited or acquired disorders of the enzymes which participate in the production of heme and porphyrins. These disorders are considered to be extremely rare. They often appear with neurological complications or skin problems, though it is possible for individuals to have both as well. The porphyrias are classified in two different ways, via pathophysiology and symptoms. Acute porphyrias are present within the nervous system involvement and feature vomiting, neuropathy, abdominal pain, and mental disturbances. Alternatively, cutaneous porphyrias are the result of exposure to the sun and tend to show skin manifestations.
In most cases, acute porphyria affect the nervous system, which results in muscle weakness, seizures, hallucinations, depression, paranoia, anxiety, vomiting, and other related symptoms. Constipation or diarrhea may also occur. It is important to understand that not all porphyria is considered to be genetic; some people are able to develop porphyria because they have a liver dysfunction, which may cause them to have different symptoms or additional symptoms which are not commonly associated with porphyria. Those who have acute porphyria have a greater risk of developing primary liver cancer and may require additional monitoring from their doctor.
Individuals who have cutaneous porphyria will deal with more symptoms that manifest on their skin than anything else. They will experience photosensitivity, itching, swelling, blisters, necrosis of the skin and gums, and increased hair growth. Unlike with acute porphyria, they will not experience abdominal pain or some of the more common symptoms. Sometimes the urine may change color after the individual has been exposed to sunlight, such as a dark brown color or a dark red tone. Sometimes purple tones or red tones can also be seen within the urine during this time period. Generally speaking, porphyria can be diagnosed through tests of the urine, blood, and stool of the affected individual. However, because porphyrias are considered to be rare conditions, most hospitals do not have the experience, equipment, or staff that would be required to be able to perform a proper porphyria test. As a result, most porphyria tests have to be sent out to a lab of professionals which have been trained to deal with these types of conditions.
Most of the treatments associated with porphyria relate to changing the diet of the individual and the use of medication. People with porphyria are recommended to have a high carbohydrate diet. Additionally, pain medication may be prescribed to help them deal with the constant pain that is generally associated with the disorder.