Porphyria is a group of rare diseases that affect the heme production in our blood. It’s also called the Vampire disease. Most of you might know this as the part of the blood that gives it such a characteristic red color.
Aversion to sunlight, blistering skin, staying in the dark, sharp pointed teeth, pale skin, and of course, sucking blood… Sounds like a vampire to me!
Oddly enough, all of the above-mentioned conditions occur in some people, barring the blood-sucking part. In fact, these are all symptoms of a disease commonly known as, you guessed it, the vampire disease. The technical term for the condition, however, is Porphyria.
Porphyria is a group of rare diseases that affect the heme production in our blood. It’s also called the Vampire disease. Most of you might know this as the part of the blood that gives it such a characteristic red color. It is an iron-containing compound that has a number of other functions as well. It is present in our blood as hemoglobin, which is the carrier for oxygen. Heme also helps in the breakdown of chemicals in the liver, especially when it comes to drugs and hormones so that they can be easily eliminated from the body.
The production of heme is an 8-step process, with a different enzyme acting at each step. Any problem or inefficiency in any one of those enzymes would lead to a problem in heme production and thus cause porphyria. When heme isn’t produced, the raw materials required for its production, i.e., porphyrins, accumulate in the blood. Alternatively, the heme content may not be strongly affected, but there may be an increase in the production of its precursors, which are also iron compounds.
There are actually several ways of classifying porphyria. One is classification based on the enzyme that is affected during the biosynthesis of heme. Therefore, it stands to reason that this would lead to 8 different types of porphyria.
The other method of classification is the location where the precursors of heme initially originate. This leads to 2 types – Hepatic porphyria and Erythropoietic porphyria. In the former, the condition starts from the liver, while in the latter, it starts from the bone marrow.
The third type of classification differentiates the cases of porphyria based on where they show their effects. This narrows the categories to either neurologic or cutaneous porphyria. Neurologic porphyria affects the nervous system, while the cutaneous type affects the skin, with no effect on the nervous system. This is the type that we will focus on.
Information on the other types can be found here.
Symptoms of Cutaneous Porphyria
This type of porphyria, as stated above, affects only the skin, and not the nervous system. However, a number of cases have been reported where it can affect both the skin and nervous system.
Cutaneous porphyria is also called chronic porphyria, and includes the following symptoms:
- Blistering of the skin
- Swelling and itchiness of the skin
- Development of redness on the affected skin
- Permanent scarring of the skin
- Overgrowth or loss of hair
- Urine discoloration (red or orange)
Basically, the condition is an oversensitivity to the sun!
The symptoms of acute porphyria, or the type that affects the nervous system are:
- Abdominal pains
- Pain in the limbs, back, chest
- Hallucinations, etc.
Causes of Porphyria
Porphyria is a predominantly genetic condition. It could be autosomal dominant, autosomal recessive or X-linked, depending on which enzyme is affected.
There are certain factors that trigger the attacks, which include:
- Exposure to the sun
- Certain hormones and medicines
- Fasting and/or dieting
There is one type, however, that is not a genetic condition. This type is known as Porphyria Cutanea Tarda. This is also the most common type of the disease. This type can be acquired by a person based on certain factors, such as:
- Excessive alcohol consumption
- Too much iron in the body
- Liver disorders like Hepatitis C. The liver plays an important role in heme production and usage.
- HIV infection
Treatment of Porphyria
The first and the most logical step is to stay away from the triggers as much as possible, as this will reduce the frequency and severity of the attacks. Apart from this, a number of other options are available to manage the disease. These include drugs that improve sun-tolerance and drugs to absorb excess porphyrins, etc. Also, treatments in which a small amount of blood is removed from the body will help. This is because removing blood will make the body use the stored iron in the liver to produce more blood cells, thus depleting the stored iron reserves. Another treatment option is to supply a patient with heme. However, the overall disorder is not curable.
Do Vampires exist?
Some sources claim that cutaneous porphyria causes the gums to tighten and shrink, thereby giving the teeth an enlarged appearance. It is also said that the myth of vampires stems from the patients of porphyria. In lieu of the symptoms of the disease, this is a plausible explanation, but porphyria doesn’t spread through biting!
One can argue that vampires exist, depending on your description of vampires. If the description is limited to sun sensitivity, blistering of the skin, an unbalanced mental condition, hallucinations, redness and itchiness of the skin upon exposure to sun, then yes… Vampires do exist!
- National Institutes of Health (NIH)
- National Human Genome Research Institute
- Victoria Better Health Channel