Vampire Syndrome: What Are the Porphyrias?

Vampire syndrome (also known as Porphyria or the porphyrias) is actually a group of metabolic conditions caused by a deficiency of certain enzymes; as a result, the body overproduces the compounds which synthesize heme. Those compounds are called porphyrins. Heme is the red pigment which is in the red blood cells and the bone marrow. There is a multi-step process in the formation of heme, and when there aren't sufficient enzymes, the steps cannot be completed to formulate heme.

In the past, the porphyrias were sometimes referred to as Dracula disease and Vampire Syndrome or Vampire disease.

The symptoms of the porphyrias depend on which type a person has. Acute porphyrias and cutaneous porphyrias are the two major groups. There are types of porphyria within each grouping; thus, there are several diseases. The specific disease is identified by the deficient enzyme.

The symptoms of the porphyrias can be physical and psychological.

The symptoms of the different types of porphyria include:

Anemia

Back pain

Abdominal pain

Muscle pain

Neuropathy - numbness or tingling

Aggressive behavior

Depression

Hallucinations

Paranoia

Photophobia - if the eyes are affected

Photosensitivity of the skin

Cardiac arrhythmia

Red colored urine

Red colored tears

Ulceration and loss of tissue - especially on the nose, ears, and lips

It is believed that people, who suffered from porphyria, hundreds of years ago, were responsible for the legends of the vampire. The legends about vampires burning up in the sunlight, having an aversion to garlic, and drinking blood may have come from the symptoms of the porphyrias. People who suffer from the cutaneous porphyrias can suffer from severe burning and blistering on any part of their body that is exposed to sunlight. Sores on the skin can erode tissue. If tissue erosion occurs around the mouth, it might look like an individual has fangs. People suffering from the porphyrias may also suffer more when they are exposed to garlic. It is understandable how people hundreds of years ago could become afraid.

Porphyria or porphyrias, as medical terms are fairly new; however, the diseases have been around long before it was named. Prior to the present medical term, porphyria was once called blood/liver disease. The term comes from the Greek language and means purple pigment.

There are several types of porphyria and they are either of the acute form of porphyria or the cutaneous form of the disease. There are too many forms of porphyria to go into detail in this article. You may see the different types of porphyria here. Most of the types of porphyria are either caused by a genetic mutation caused by an autosomal dominant or autosomal recessive genetic trait. An autosomal dominant trait means you only need one copy of the mutant gene to have the disease. Conversely, an autosomal recessive trait requires two copies of the mutant gene to have the disease. One parent can pass on the defective gene in the autosomal dominant trait; two parents are required to pass on their defective genes in the autosomal recessive trait.

Conclusion

The porphyrias are so rare that most doctors may not think of testing for porphyria. The symptoms of porphyria can mimic many other diseases and conditions. If the patient's symptoms are abdominal pain, the doctor might look for appendicitis or some other ailment causing the discomfort. It may dawn on the physician later, when more signs and symptoms appear to test for porphyria.

Sources:

http://www.genome.gov/19016728#al-2

http://emedicine.medscape.com/article/1389981-overview#DrugstoAvoid

http://ghr.nlm.nih.gov/condition/porphyria

http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm

http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm