WHAT IS PORPHYRIA ?

Porphyria is a fairly uncommon condition. It is not one condition, but a group of several related diseases. Most of these are inherited but some may be acquired. People with porphyria may develop skin problems or a condition known as the acute attack. In all the porphyria, the basic dilemma is that excessive amounts of porphyrins and their precursors accumulate in the body. It is under-diagnosed. Many sufferers are completely asymptomatic. All living things, including healthy people produce porphyrins. In porphyria, there is an atypical accumulation of porphyrins as the result of enzyme defects; this results in illness. Our bodies convert two simple substances, 5-aminolaevulinate (ALA) and porphobilinogen (PBG) known as porphyrin precursors, into more complicated substances called porphyrins. These are then converted from one type of porphyrin to the next to form haem. Haem is a vital substance in our bodies. Protoporphyrin together with Iron are the building blocks necessary to make haem. Each step on the pathway is completed by a special protein known as an enzyme. In each type of porphyria, a specific enzyme is deficient, and this is why porphyrins accumulate.

 ACUTE INTERMITTENT PORPHYRIA (AIP):

THE ACUTE ATTACK

People with AIP HC or VP are always at risk of an acute attack of porphyria. This may be very dangerous, and they should read this section carefully and make sure they understand how they can prevent such an attack. Those with PCT, EPP and CP are not at risk, and this section does not apply to them.

What is an acute attack?:

The acute attack takes place when the levels of the porphyrin precursors become very much raised for one or other reason. One can think of this as an overloading of the body with porphyrins and their precursors. During such an attack, the affected person may experience abdominal pain, cramps, constipation, nausea or vomiting. They may also show marked anxiety or disturbed behaviour. Such attacks can be bad enough to require admission to hospital, and the most severe cases may go on to weakness and paralysis. People have even died of such an attack. Fortunately, a fatal outcome has become rare as modern hospitals now have the facilities to treat such complications. This emphasises the need for people experiencing an acute attack to be admitted to an experienced hospital. It is more common nowadays for people with AIP or VP to develop milder forms of the acute attack with not much more than a feeling of being unwell, some pain in the stomach and, perhaps, nausea. If you are experiencing such problems, it is important that you immediately stop any medication you may be taking and consult your doctor. Yet everyone has some of these symptoms at one time or another and you cannot blame everything on your porphyria!

What may bring on an acute attack:?

Acute attacks may follow the use of many drugs. Porphyric people are unable to handle these drugs in the normal way and their bodies respond to them by overproducing porphyrins. This is the commonest cause of the acute attack. However, attacks can also be precipitated by alcohol, by an infection and even by dieting. Smoking has been shown to worsen attacks.

What can I do to avoid developing an acute attack?:

You must understand that there are many medicines that can aggravate your porphyria, possibly resulting in an acute attack. Therefore, you must never take any medicine or remedy without checking that it is safe for porphyrics. This includes drugs given to you by a doctor, pharmacist or dentist, as well as those you can buy without prescription. Always consult our list (which you will find in this booklet) before you take the medicine given to you. Note that this includes tonics, herbal remedies and even the contraceptive pill, which has been a major factor in the development of acute attacks.

If you ever need an operation, you must tell the surgeon and anaesthetist that you have porphyria, as some anaesthetic drugs in common use are very dangerous for porphyrics. Safer alternatives can be used. It is desirable to wear a Medic-Alert disc or carry a similar form of identification, so that doctors will know you have porphyria in the event of an accident.

Finally, it is wise to eat regular meals and not to go without food for long periods, or to embark on 'crash' diets. Other than this, there is no special diet that needs to be followed. If you wish to lose weight, discuss your diet with your doctor beforehand. It is also best to avoid alcoholic drinks and to stop (or never start) smoking.
 

People with VP, HC, CP and PCT may have a sensitive skin. They complain that it is easily damaged and that even the slightest knock can cause the skin to break. Often these damaged areas take a long time to heal. Sunlight is necessary to cause the skin to become fragile and people with porphyria find that the only parts of their bodies that are affected are those that are exposed to light, particularly their hands, faces, necks, legs and feet. They develop blisters and open sores. In time their skins become thin, dark, scarred and often rather hairy, particularly on the face.

EPP and CP are somewhat different to the other porphyria. Firstly, the skin may already be affected as a very young child or even in infancy, whereas the other porphyria usually only become obvious later in life. Secondly, such people often find that they react to sunlight rapidly, developing a sensation of burning or stinging shortly after going into the sun. This is unlike VP, HC and PCT, where the damage takes much longer to develop. Affected people learn to avoid too much light because of this discomfort.

Skin care:

If you have skin problems because of porphyria you should look after your skin as follows:-
 
1. Avoid sunlight as much as possible. This means remaining indoors during the sunniest part of the day, and only going out in the early morning or late afternoon.

Unfortunately, sunbathing is OUT if you have skin problems. This is definitely the worst thing a porphyric with skin problems can do. If you have a job that requires you to be in the sun a lot, you may have to consider changing your occupation. Protect sun-exposed areas by wearing long sleeves, gloves and a hat whenever you go out. These should be made of cotton, which screens out the sun better than nylon. No cream or medication is as effective in protecting your skin. The only sunscreen creams that can help are the opaque zinc or titanium oxide creams, which are unfortunately thick and greasy. Ask your pharmacist for such a cream. Note that the usual suntan lotions will not protect your skin. Though they prevent sunburn in normal people, they do not keep out the light which damages a porphyric's skin.
 
2. Protect your skin from injury: Use a silicone barrier cream and rubber gloves to protect your hands when washing clothes or dishes. Try not to knock your hands; a porphyric's skin is fragile and easily broken. For instance, wear heavy leather workman's gloves when working on your motor car. When your skin is blistered or broken, avoid scratching and keep it clean with water and a mild soap. Avoid strong antiseptics. You can avoid permanent scarring if you look after such sores properly.