The aim of Porphyria Awareness Week is to do just that, raise awareness of this metabolic disease which is classed as a rare disease. Surprisingly there are still many people, including the medical profession who are unaware of what Porphyria is or how many different types of Porphyria there are or why its important to know about this disease. Porphyria is a very complex disease, to explain to the layman who doesn't have an in-depth knowledge of biology & chemistry it can be difficult to grasp. In simple, easy to understand terminology, here is a brief look into what this disease is.
Where does the name Porphyria come from?
The name Porphyria is derived from the Greek word "purple", in reference to the colour of a Porphyric's urine during an acute attack. The urine would generally take on the colour of red wine.
What is Porphyria?
Porphyria is a group of disorders of which there are several different types, however regardless of the type of Porphyria one may have, they all have the same root cause, a problem with how the body produces a substance called heme, which is made in the liver and bone marrow, there are eight different enzymes involved in this process. When there is a deficiency of one of these 8 enzymes this will determine they type of Porphyria one has.
In the cutaneous porphyria's, the porphyrins build up in the skin, and when exposed to sunlight, cause symptoms. In acute Porphyrias, the buildup of toxins damages the nervous system. In the case of the type of Porphyria which results in cutaneous and neurological one has both to contend with.
Is there a cure for Porphyria?
Unfortunately not, there may be several treatments available to manage the disease and keep attacks at bay by identifying and avoiding possible triggers. This is not always possible and often times some people will still have on going attacks without knowing what the trigger is.
How do you get Porphyria?
Most forms of porphyria are inherited, for example:-
Inheriting a defective gene from one of your parents (autosomal dominant pattern)
Inheriting defective genes from both parents (autosomal recessive pattern)
Just because someone inherits a gene or genes that can cause porphyria doesn't mean that they will have signs and symptoms of the active disease. One may have what is known as latent Porphyria and never display symptoms.
Porphyria Cutanea Tarda (PCT) typically is acquired rather than inherited, although the enzyme deficiency may be inherited. Certain triggers that impact enzyme production — such as too much iron in the body, liver disease, estrogen medication, smoking or excessive alcohol use can cause symptoms.
Triggers
In addition to the genetic risks, environmental factors may trigger the development of signs and symptoms in porphyria too. When one is exposed to the trigger, the body's demand for heme production increases which then overwhelms the deficient enzyme, setting in motion a process that causes a buildup of porphyrins in the body.
Some examples of triggers include the following but are not conclusive:
Exposure to sunlight / Ultraviolet light / Fluorescent lighting
Certain medications, including: hormone drugs, various antibiotics, anaesthetics, pain relief
Recreational drugs
Dieting or fasting
Smoking
Physical stress, such as infections or other illnesses
Emotional stress - this can affect the skin as well as neurological
Alcohol use
Menstrual hormones
Complications resulting from Porphyria
Acute Porphyrias - can be life-threatening if an attack isn't promptly treated or if drugs which are contraindicated are administered to the patient. The importance of wearing a MEDIC ALERT bracelet is of the utmost importance as this can alert medical staff in the event of an emergency where the patient is unable to communicate. During the attack one may experience any number of symptoms, due to the fact that Porphyria affects everyone differently including severity. Some of the more common symptoms are breathing problems, severe stomach pains, seizures, high blood pressure, anxiety, confusion, hallucinations, nausea, lightheaded, muscle weakness, brain fog, disorientation, unsteady gait, body pains, neurological issues ,partial paralysis etc. Sever episodes may require hospitalisation for treatment, from several days to months depending on severity. Long term complications due to recurrent acute attacks may include chronic pain, chronic kidney failure and liver damage amongst others.
Cutaneous porphyrias - can result in permanent skin damage, the skin is very fragile, care needs to be taken when doing daily tasks to avoid bumping or scrapping the skin leading to injury. The skin may blister or sting which results in pain on areas where exposure to sunlight or even ultraviolet lighting. The blisters can become infected When your skin heals after cutaneous porphyria, it may have an abnormal appearance and colouring and leave scars. The skin can often itch terribly too when triggers are present such as in the case of stress.
On a personal note I have Variegate Porphyria, the South African R59W genetic mutation, I would like to sign off with this message.......... just because someone looks perfectly healthy on the outside doesn't mean that they are, people with Porphyria, often tire easily, we may have brain fog that we deal with daily which makes it very frustrating for us to complete tasks (and no we are not stupid or lazy), we have anxiety, we may have nerve damage and suffer from peripheral neuropathy, depression or a variety of other concerns related to our disease. We need to eat small meals very often, consisting of good carbohydrates. We may feel self conscious because we have bad scaring, our skins may be very fragile and that means that we often need to miss out on some fun activities for fear we could injure our skin. Some days we have boundless energy that we can take on the world and other days we have absolutely none. Concentrating on a task is at times monumental.
I used to enjoy riding my mountain bike but my co-ordination and balance is not always so good and there were times I would end up falling off because I lost my balance, the last venture several years ago ended up with a bad knee injury, I am so wary of getting back on again so the bike is packed away now. No extreme sports for me. On the bright side, I have found other less risky activities. Life is what you make it.
By Carol-Lynn Croker (Lynn)
If you or a loved one have Porphyria or suspect that you may have please contact the BPA or your local organisations for further assistance in obtaining diagnosis.
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