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Porphyria (The Vampire Syndrome): Causes, Symptoms, Diagnosis, Risk Factors And Treatment

The vampire syndrome is a rare genetic disorder of the blood which usually affects the skin and the nervous system. In medical terms, it is known as porphyria [1] . The condition is termed as 'vampire' because of its symptoms which is similar to the mythological vampire of the 18th century.

Porphyria was discovered a long time ago, much before the invention of antibiotics, sanitation and refrigeration. In those days, people with this condition were considered a 'vampire' due to their vampire-like symptoms which involve fangs, dark circles around the eyes, reddish urine and insensitivity to sunlight. However, the condition was later studied by medical experts and its treatments were invented [2] .

Scientific Theories Behind Porphyria

According to Desiree Lyon Howe, the founder of the American Porphyria Foundation and the sufferer of acute intermittent porphyria, this rare disease was prevalent among the remote communities in Europe during the middle age period when people used to live far away from the contact of the modern world [25] .

Roger Luckhurst, a professor in Modern and Contemporary Literature (London) and the editor of the book 'Dracula' by Bram Stoker mentioned several factors and incidents responsible for porphyria in the 1730s. He mentioned that during the medieval age, a catastrophe struck the remote areas of Europe and caused hunger, plague and many severe diseases like catalepsy (rigidity of the body and loss of sensation) [26] .

Due to the lack of contact with the outside world and insufficiency of medicines, people with porphyria got mentally disabled due to fear, depression and other factors and started eating themselves out of extreme hunger. Also, due to the unawareness of modern vaccination and drugs, diseases caused due to animals bite like rabies got spread in large amount during the time which caused them an aversion to water and light, hallucination and aggression.

Another cause, as mentioned by Professor Roger Luckhurst, indicates that as these European communities remained in isolation for so long, it caused malnutrition due to poor diet and more susceptible to multiple diseases due to which their genes might have mutated for worse causing the vampire-like symptoms.

As time passed by and marriages took place, the abnormalities in gene passed from parents to children and caused the spread of the condition.

Cause Of Porphyria

In humans, oxygen from the lungs is transferred to other body parts through a special protein in the red blood cells called haemoglobin which is also responsible for the red colour of the blood. Haemoglobin contains a prosthetic group called heme which comprises of porphyrin and an iron-ion at the centre. It is usually made in red blood cells, bone marrow and liver.

Heme is made in eight sequential steps each by a separate enzyme produced by porphyrin. If any of these eight steps fails during the building of heme due to genetic mutation or environmental toxin, the synthesis of the enzymes get disturbed causing its deficiency and leading to porphyria. There are around many different types of porphyria and the condition is linked to the type of enzyme which is absent [3] .

Types Of Porphyria

There are 4 types of porphyria in which two are characterised by its symptoms and the latter two are divided by pathophysiology.

1. Symptom-based porphyria

  • Acute porphyria (AP): This life-threatening condition appears quickly and affects the nervous system. Symptoms of AP last for one or two weeks and after they appear, the symptoms start improving. AP rarely occurs before puberty and after menopause [4] .
  • Cutaneous porphyria (CP): They are mainly divided into 6 types and each type denote conditions related to severe skin diseases like oversensitivity to sunlight, blisters, oedema, redness, scars and darkening of the skin. The symptoms of CP starts during childhood [5] .

2. Pathophysiology-based porphyria

  • Erythropoietic porphyria: It is characterised by overproduction of porphyrins, especially in the bone marrow [6] .
  • Hepatic porphyria: It is characterised by overproduction of porphyrins in the liver [7] .

Symptoms Of Porphyria

Symptoms of porphyria according to its types are as follows.

Acute porphyria

  • Swelling and severe pain in the abdomen
  • Constipation, vomiting or diarrhoea
  • Heart palpitation
  • Mental conditions like anxiety, hallucination, or paranoia [8]
  • Insomnia
  • Seizures [8]
  • Red or brown urine [9]
  • Muscle pain, weakness, numbness or paralysis
  • Hypertension

Cutaneous porphyria

  • Oversensitivity to sunlight [10]
  • Burning pain in sunlight or artificial light
  • Painful swelling of the skin
  • Skin redness
  • Scars and skin discolouration [10]
  • Increased hair growth
  • Blisters from a minor scrapes
  • Blue-tinged urine
  • Abnormal hair growth on the face [11]
  • Darkening of the exposed skin
  • Severe scarring of the skin resulting in exposed fang-like teeth and red lips.

Risk Factors Of Porphyria

When porphyria is acquired, it is mainly due to environmental toxins that trigger the symptoms of vampirism. They are as follows:

  • Sunlight exposure [1]
  • Eating garlic or garlic-based foods [12]
  • Hormonal medications like menstrual hormones
  • Smoking [13]
  • Physical or emotional stress [14]
  • Infection
  • Substance abuse
  • Dieting or fasting
  • Drugs like birth control pills or psychoactive drugs
  • Excessive accumulation of iron in the body [15]
  • Liver disease

Complications Of Porphyria

The complications of porphyria are as follows:

  • Kidney failure [16]
  • Permanent skin damage [5]
  • Liver damage
  • Severe dehydration [4]
  • Hyponatremia, low sodium in the body
  • Severe breathing problems [4]

Diagnosis Of Porphyria

Porphyria is sometimes hard to detect as its symptoms are similar to Guillain-Barre syndrome. However, the diagnosis is carried out by the following tests:

  • Blood, urine & stool test: To detect kidney and liver problems and the type and level of porphyrins in the body [17] .
  • DNA testing: To understand the cause behind the gene mutation [18] .

Treatment Of Porphyria

The treatment of porphyria is based on its types. They are as follows:

  • Intravenous medications: Hematin, glucose and other fluid medications are given intravenously to maintain the levels of heme, sugar and fluids in the body. The treatment is done mainly in acute porphyria AP [4] .
  • Phlebotomy: In CP, a certain amount of blood is withdrawn from the veins of a person to reduce the level of iron in the body [19] .
  • Beta carotene drugs: To improve the skin's tolerance to sunlight [20] .
  • Antimalarial medications: Drugs like hydroxychloroquine and chloroquine, which are used to treat malarial symptoms are used to absorb an excessive amount of porphyrins from the body [21] .
  • Vitamin D supplements: To improve the conditions caused due to vitamin D deficiency [22] .
  • Bone marrow transplantation: For the production of new and healthy blood cells in the body [23] .
  • Stem cell transplantation: This is carried out by using the umbilical cord blood which is a rich source of stem cells than bone marrow [24] .

Tips To Deal With Porphyria

  • Wear protective gears when outside in the sun.
  • Avoid drugs or alcohol if you have porphyria.
  • Don't eat garlic as it may trigger the symptoms of this condition [12] .
  • Quit smoking [13]
  • Don't fast for long as it may lead to the deficiency of certain nutrients in the body.
  • Perform meditation or yoga to reduce stress.
    If you get an infection, treat it as soon as possible.
  • Consider a medical expert before starting a certain medication as it may trigger the symptoms.
  • If you have the condition, don't forget to go for genetic testing to understand the cause of the mutation.
View Article References
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