Porphyria is a disorder that occurs when there is a build-up of the chemicals in the body that produce a substance called porphyrin. Porphyrin is necessary for hemoglobin to function properly. When there is too much of this substance in the body, then there can be some significant health problems that follow. Exposure to sunlight is the greatest issue. It is actually believed that the legend of the vampire was created around this specific disorder.
Facts About Porphyria
1. The exact prevalence of porphyria is unknown, but it likely ranges from 1 in 500 to 1 in 50,000 people worldwide.
2. Porphyria Cutanea Tarda occurs in the Cacausian population at a rate of 1 in 25,000.
3. Fewer than 300 cases have been reported in the medical literature of Congenital Eyrthropoeitic Porphyria.
4. Only 6 cases of ALAD-deficiency porphyria (ADP) are documented.
5. Acute Intermittent Porphyria has been reported in the range of 1.5-10 per 100,000 but most carriers of a mutant allele never develop symptoms.
6. The most common erythropoietic porphyria, erythropoietic protoporphyria (EPP), is estimated to have a prevalence rate of 1 in 50,000 to 1 in 75,000.
7. The number of different types of Porphyria that are known: 8.
8. Variegate porphyria is most common in South America with an incidence rate that is as high as 3 in every 1,000 people.
9. Symptoms of acute porphyrias can develop over hours or days and last for days or weeks.
10. The recommended dietary allowance for carbohydrates is 130 g per day when Porphyria has been diagnosed. Fasting of 24 hours can promote symptom triggers, but intermittent fasting has also shown to be helpful in symptom reduction.
11. Children have a 50% chance of inheriting any of the 8 different types of Porphyria if their parents have the disorder.
12. Hepatoerythropoietic porphyria creates a greater than 90% deficiency in the needed enzyme.
13. Drugs such as barbiturates, tranquilizers, birth control pills, and sedatives are known to trigger the condition.
14. Some people may have porphyria, but have it be in remission until lifestyle circumstances change. It is not unusual for someone to be IV fasting after a surgery for several days to have porphyria symptoms develop.
15. When experiencing a porphyria attack, it is not uncommon for their to be eyesight blurring or other changes that occur because of a dysfunction in the nervous system.
16. General acute porphyria is more common in women and cutaneous porphyria is more common in men.
There are several different types of porphyria that are known and all vary in severity. It is usually an inherited disorder and both parents can pass along the abnormal gene. There are also cases of porphyria that have been known to be triggered by environmental factors. Although some types can be cured, most people who receive a diagnosis of this disorder will be managing it for the rest of their lives. That’s why having statistics like these on-hand can be so useful.
How Rare Is This Disorder?
Although the prevalence of this disease is considered rare, there is a direct connection to the diagnosis of Porphyria Cutanea Tarda and a person’s exposure to Agent Orange. Veterans who have been exposed to Agent Orange have been diagnosed with Porphyria may be diagnosed with up to a 10% disability because of this condition. It causes blisters in sun-exposed skin areas, excessive scarring, increased hair growth when the skin is exposed to sunlight, and even liver damage. These symptoms occur in 12 months or less after exposure.
Treatment options are generally to reduce symptoms. A drug called Panhematin has been approved for acute versions of Porphyria and it helps to correct the hemoglobin deficiencies that the disorder causes in the liver. 3 to 4 mg/kg of Panhematin given once daily for four days early in an attack produces a highly beneficial effect in most patients. It is the only commercially available treatment in the United States.
Avoiding the triggers is the best proactive treatment. Avoiding alcohol, smoking, and having excess iron are all beneficial. People who are under extreme emotional or physical stress may also suffer from porphyria attacks.
Only a medical provider can diagnose this condition, so if any unusual symptoms appear and do not go away, schedule an appointment right away. This is especially true if there is red or brown urine or a sudden sensitivity to sunlight. It could be a decision that makes life a whole lot easier.