The term porphyria refers to a group of disorders. They do differ in some ways, but all share the same problem. They all have a build up of porphyrins in the body. Porphyrins help to make heme a part of the red blood cell. However, a build up of the porphyrins in the body cause damage. It most often affects the nervous system and skin.
Congenital Erythropoietic Protoporphyria—present from birth
Some types of porphyria start in early childhood, some at puberty, and others during adulthood. Attacks may be separated by long periods of time. The attacks can be triggered by drugs, infections, alcohol consumption, and dieting.
Most types of porphyrias are inherited through genes. They may be passed on by one or both parents.
Factors that may increase you chance of porphyria:
Having a family member with this disease—most common risk
Caucasians are at greater risk than Blacks or Asians
Sex: female (related to the menstrual cycle)
Most onsets happen between age 20-40
Porphyria can cause skin or nervous system problems. Urine from some may be reddish in color. This is due to the presence of excess porphyrins. The urine may darken after standing in the light. Specific symptoms depend on the type.
Acute Intermittent Porphyria (AIP)
Nervous system symptoms occur most often after puberty. Nerves of the intestines can cause gastrointestinal problems. Attacks can last from days to weeks. Symptoms of future attacks resemble the initial episode and may include:
The doctor will ask about any symptoms. A medical and family history will be taken. A physical exam will also be done.
The symptoms can be very vague. As a result, the diagnosis is often delayed.
Tests differ for the various types. They may include blood, urine, and/or stool tests. These tests check for excess porphyrin or a specific enzyme deficiency. In some cases specific genetic testing may be available as well.
For all types of porphyria, treatment includes the following:
Avoiding known triggers and drugs that can precipitate an attack
Eating a high-carbohydrate diet
Porphyria that affects the skin require special attention to protect the skin from injury and/or infection.
Specific treatment depends on the type of porphyria.
Acute Intermittent Porphyria
You may need to be hospitalized during an attack. In the hospital, you may be given the following:
Heme by vein (intravenous) in the form of hematin, heme albumin, or heme arginate
Glucose by vein
Drugs to control symptoms such as pain, nausea, anxiety, and insomnia
Genetic testing may identify people at risk for porphyria. If there are people in your family with the diagnosis of porphyria, you may be eligible for testing. If the family member has had a test that showed DNA changes, that change can be looked for in you.
A genetic counselor can review your family history. The counselor will help find the risks for this disorder in you and your offspring. They will also discuss appropriate testing for you.
Genetic mutation cannot be corrected. However, attacks can be anticipated, prevented, or controlled. Steps to avoid porphyria attacks and complications include the following:
Please be aware that this information is provided to supplement the care
provided by your physician. It is neither intended nor implied to be a
substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER
IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the
advice of your physician or other qualified health provider prior to
starting any new treatment or with any questions you may have regarding a