Do you believe that vampires exist? I am certain you answered no to this question. Vampires are a myth in our society but that may not be entirely true. There are certain individuals who of no fault of theirs, develop a condition with behaviour similar to vampires. This condition is called Erythropoietic protoporphyria. A mouthful of words, right? Let us delve right into this mystery disease.
Erythropoietic protoporphyria (EPP) is an extremely rare blood disorder where the sufferer’s skin becomes incredibly sensitive to ultraviolet (UV) light and visible light. It is such that even on cloudy days, there’s enough sunlight to cause blisters of the exposed body parts such as the ears and nose.
Such individuals are advised to spend their entire day indoors. It happens in 1:100 000 of the population. In some cases, blood transfusion is given to alleviate some of their symptoms. In ancient times, staying indoors and drinking animal blood would have achieved a similar effect.
One may ask, what is it about their blood that makes them go through all these hardships?
One major component of the human blood is red blood cells which circulate through our body at every point in time. Red blood cells contain haemoglobin that transports oxygen from the lungs to the rest of the body and carbon dioxide from organs to the lungs. As you may have observed, haemoglobin is a compound word and it is formed from two molecules, the heme and globin group. The heme is the substance that binds with oxygen or carbon dioxide to ensure effective circulation in the body. Also, the heme group contain iron that makes the blood red and porphyrin. Globin is the protein that surrounds and support the heme group.
People with EPP have a problem with the heme group. They have a genetic mutation that disrupts the production of heme. Heme may be produced in smaller quantities as well as form other components that create the symptoms. This is how it happens:
To produce heme, the body undergoes a process called porphyrin synthesis which occurs in the liver and bone marrow. If there is a genetic defect associated with this stage, which there is in people with EPP, it will disrupt this process by interrupting the body’s ability to produce heme. This leads to a decreased reduction in their production and a buildup of the protoporphyrin component called protoporphyrin IX(9). This product accumulates in the body, plasma and sometimes the liver rather than the heme which was to be produced.
When protoporphyrin IX(9) is exposed to sunlight via the skin, their blood begins to boil and attack nerve endings. The skin rips them apart giving them the appearance of sunburn. As a result, people with EPP experience swelling, burning and redness of the skin after exposure to sunlight, even trace amounts of sunlight that pass through the window.
To avoid these discomforts, they shut the doors and windows and remain in the dark. Others may show mild complications whereas some show massive ailments. Aside from staying indoors, they require a frequent blood transfusion. The blood transfusion removes the toxins.
This explains why individuals who were suspected to be vampires from the olden days were said to have drink animal blood. Human blood cannot be broken down by the liver, thus, individuals who drink the human blood will develop liver disease and may eventually die.
So it is very likely that vampires did not exist. They might have been individuals suffering from EPP. Vampires live eternally and drink human blood which is not possible. Moreover, vampires will turn into dust on exposure to sunlight. This does not happen in EPP.
Many individuals with this condition begin experiencing symptoms in their childhood averagely at 4 years. It begins with the sunburn on their face, legs, hands and feet. Others may first experience it during their adolescence when hormones levels have been elevated. Nevertheless, the first symptom is the immediate sensitivity to light. In severe cases, individuals may feel pains and would have to be rushed indoors.
Liver failure may occur in a few of such people. This is due to the accumulation of protoporphyrin 9(toxins) in the liver. Other liver diseases from mild to severe may be observed.
In other cases, gallstones may occur.
No one would want to live their entire life indoors or in outfits covering their entire body when they go out. We would all want to escape it. To do so, we have to find the cause of this disease.
EPP belongs to a group of disorders known as porphyrias. They are caused by deficiencies in the production of specific enzymes involved in the heme biosynthesis pathway. There are about 8 stages in porphyria synthesis to form heme. Each type is determined by the stage where an abnormality happens.
In Erythropoietic protoporphyria, the mutation occurs from a deficiency in an enzyme called ferrochelatase. The mutation in the gene that forms ferrochelatase results in EPP. Ferrochelatase is needed to insert ferrous iron into protoporphyrin to form heme.
Remember, that heme is formed from iron and porphyrin.
Thus, a deficiency in the enzyme results in a build-up of only protoporphyrin which is toxic to human blood.
Thus, for a person to exhibit this condition, the individual must obtain defective genes from both parents. It is an autosomal recessive disorder. A person must receive one dominant and one recessive gene from both parents. If the patient receives only one, the individual becomes a carrier for the disease and will be free from this condition. However, if two carriers marry, it is likely to transfer their defective genes to at least one child.
There is no cure for this disease but there are ways to manage the symptoms. The best way to manage the disease is to limit exposure to sunlight and some types of artificial lighting. Incandescent and LED lighting in the soft white range produces the least problematic light.
Sun protective clothing can be worn by individuals when stepping out. Some manufacturer’s use zinc oxide in their clothing which protects the sufferers from visible light.
Window films that block UV and visible light can be applied to the home windows and automobiles of such individuals.
Blue blocking screen protectors can be used on their gadgets such as television and phones.
Afamelanotide, has been developed to prevent phytotoxicity in adults. It is an implant that is injected and placed under the skin.
Erythropoietic protoporphyria is a blood disorder that is difficult to live with. Patients have to spend their lives indoors and miss out on simple life activities like vampires even though they are not. They need your utmost love and care. It can happen to anyone so remember to be kind.
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