Q&A on Porphyria

What is VARIEGATE PORPHYRIA?
Is a metabolic disorder. It causes overproduction of substances known as porphyrins.

Variegate Porphyria = acute porphyria

· Genetic disorder
· Affects nervous system and skin
· Body produces too much of the chemical porphyrin
· Porphyrin is used to make Heme
· Heme is the part of blood that carries oxygen
· Heme also gives blood its color
· Any circulating porphyrin the body doesn’t use is excreted in urine and stool
· In porphyria the body produces and excretes too much porphyrin and not enough Heme remains to keep a person healthy


How does having porphyria effect someones lifestyle/life?

The sun is a killer!! Modern medicine, BARBITURATES, SULPHONAMIDES especially and PENTOTHAL are to be absolutely AVOIDED at all costs!!!

In general, patients with porphyria have only two major symptoms: the acute attack and skin photosensitivity. It is important to realise that not every porphyria is associated with both problems, and you should be sure in your own mind of which type of porphyria you have and what its possible effects are.

The acute attack is a serious condition which arises during a time of particularly active porphyrin overproduction, and may follow exposure to a wide range of drugs and medications which stimulate the production of porphyrins. It is felt by the patient as an attack of severe abdominal pain, possibly with nausea, vomiting, constipation and pain in the limbs and back. It may potentially deteriorate into a state of paralysis, and is therefore dangerous. Fortunately however, there is very effective treatment available which will prevent this provided the attack is recognised and treated early.

The skin disease takes the form of easy blistering and development of sores, scabs and scars in sun-exposed areas, particularly the backs of the hands and face.

How was it discovered?

In 1939 two medical students at the University of Cape Town; Lennox Eales (Prof Eales) and Jack Chait published the first description on Porphyria in the l’nyanga journal.

The link with this founder family was identified first by Geoffrey Dean, a British physician who settled in South Africa in 1947.

Is it easily curable?

NO!
In most cases the defect is genetic, and a mutation carried within a family results in a faulty enzyme which cannot handle the normal metabolism of porphyrins, with a consequent overproduction. One form of porphyria (porphyria cutanea tarda), is however usually not genetic, but is acquired or "picked up" as a result of certain forms of liver dysfunction. In this case, the defect is found only in the patient and not in his or her family.

Do you know someone who has porphyria? If so, is there anything different about them? (emotionally)

I have Variegate Porphyria (South African Porphyria) - It’s been in our family for generations (van Niekerks). My grandmother died at the age of 26 – giving birth to her fourth child. She died of kidney failure, due to medication complications…

My DNA test confirmed a positive South African R59W gene mutation – the common defect responsible for Variegate porphyria in South Africa.
That means PORPHYRIC DRUG PRECAUTIONS need to be exercised.

It was done in the PORPHYRIA LABORATORY MRC/UCT LIVER RESEARCH CENTRE (University of Cape Town) by Prof Peter Meissner and Prof Richard Hift.
Prof Richard Hift is now the HOD of the School of Clinical Medicine at UKZN Medical School. They are doing brilliant work in this respect!

And NO there is nothing different from us, except that we get very sick when in an attack! And suffers from sun-exposed areas on our skin, but otherwise we are normal :)


What are the different types of porphyria?

Acute intermittent porphyria (AIP) and ALA dehydratase deficiency (Doss) porphyria are associated with acute attacks only, but no skin disease.
Porphyria cutanea tarda (PCT) , erythropoietic protoporphyria (EPP) and congenital erythropoietic porphyria (CEP) are associated only with skin disease, but not with acute attacks.
Variegate porphyria (VP) and hereditary coproporphyria (HCP) are associated with both.

Variegate porphyria is common in South Africa, The other forms of porphyria are also encountered in South Africa, but less frequently.

How do people treat you?

With care :) History has shown us that when we judge in ignorance we can make terrible mistakes.
The testing of porphyria is very problematic and can cause a lot of pain and hurt (emotionally). In South Africa where Variegate Porphyria is suppose to be common, it is still ignored or unknown or unheard off by certain Drs, however I think it is worse in America according to their porphyria blogs... We have great Professors at UCT in Cape Town.

What triggers the acute attack?
PENTOTHAL, BARBITURATES AND SULPHONAMIDES and should be avoided at all costs
· Other drugs, tranquilizers, birth control and sedatives
· Chemicals and exposure to the sun
· Certain foods like dried fruits containing Sulphur dioxide used as preservative and alcohol, wine containing Sulphites – Sulphur dioxide used in bleaching and as a fumigant

If in an attack the following procedure is followed:

Severe acute attacks
The patient usually experiences the following.

Severe abdominal pain - which may also be felt as a dragging discomfort in the lower back, loins and legs - nausea; vomiting is not invariable - mildly elevated blood pressure and pulse rate -
passage of dark urine and, perhaps, paralysis.

Mild acute attacks are signified by the following - abdominal pain as above, lasting continuously for several days, continuous throughout most of the day and night, accompanied by loss of appetite and possibly nausea.

The only reliable confirmation of porphyria as the cause of the pain, is the demonstration of elevated aminolaevulinic acid (ALA) & porphobilinogen (PBG) and porphyrins in the urine. People experiencing abdominal pain on the basis of their porphyria will have a very active porphyria metabolically. One usually finds high levels of porphyrins in their urine and the precursors— ALA and PBG— will be raised. This is strong evidence for an incipient acute attack.

Such an attack can prove fatal if left untreated.

The cardinal feature is that these are attacks - We are, and look, ill.

If it is symptoms of a more severe attack, and vomiting or fails to improve promptly
Patients should be instructed to:

Cease their medication and Consult their doctors without delay.
You'll be admitted and treated for an acute attack.

Never forget that the abdominal pain of porphyria is not associated with peritonism.
The absence of abdominal tenderness, guarding, rigidity or rebound tenderness is typical of acute porphyria, and does not imply that the patient is simulating illness.

They usually need powerful analgesics such as Pethidine (Demerol) for control of the pain of the acute attack. Other medication may be necessary to control nausea and vomiting.

In approximately half the acute attacks encountered in patients with variegate porphyria, the attack begins to settle spontaneously within the first 24 hours. If so, then no further treatment is necessary.

In the remaining patients (and in most patients with acute intermittent porphyria), patients require treatment with haem arginate (Normosang™, Orphan Europe). This is a compound of haem and the amino acid arginine and is given intravenously by infusion. It is highly effective in aborting the acute attack. Patients usually feel greatly improved within two days of beginning haem arginate, and a well enough for discharge in approximately four days.

Haem arginate is available in South Africa, but will in most instances have to be specially ordered from the distributors. If you or a family member are developing an attack, you should advise your doctor and pharmacist to make early arrangements for the delivery of haem arginate, as it may prove impossible after hours or over weekends. I have never used it - it is very expensive and by the time they order it from Johannesburg and it arrives on the South Coast I am nearly over the attack.
And you never know when you are going to have another attack, it just happens... Only afterwards you'll discover the reason(s) behind the attack, your diet, medication, alcohol or the sun... I have to be very careful with what I eat due to all kinds of chemicals and preservatives in and on food...

Pethidine addiction is almost unheard of among our porphyrics.

Characteristic behaviour among many patients is to demand pethidine repeatedly during their admission, often with sudden improvement immediately thereafter, only to cry for pethidine again within a short time.
Yet, as soon as the acute attack settles, all demands for pethidine cease and the patients are discharged. This is totally incompatible with any definition of opiate dependence, and proves that the opiate requirement is genuinely in response to pain. Unfortunately many doctors and nurses with no experience of porphyria fail to realise this, and resort too easily to labels such as "pethidine dependence".