Porphyria Educational Services
Monthly Newsletter November 2005
All information published in the Porphyria Educational Services Monthly Newsletter is
to provide information on the various aspects of the disease porphyria and it's associated
symptoms, triggers, and treatment.
Columnist and contributors and the information that they provide are not intended as a
substitute for the medical advice of physicians. The diagnosis and treatment of the
porphyrias are based upon the entire encounter between a physician and the individual
Specific recommendations for the confirmed diagnosis and treatment of any individual
must be accomplished by that individual and their personal physician, acting together
Porphyria Educational Services in no way shall be held responsible in part or whole for
any injury, misinformation, negligence, or loss incurred by you. In reading the monthly
newsletters you need to agree not to hold liable any contributing writers.
Dioxins Affects Acute Porphyrics
One of the multitude of chemical toxins that affect porphyria patients is that of dioxin.
Dioxin is a colorless, odorless organic compound containing carbon, hydrogen, oxygen and chlorine.
The term dioxin refers to a broad family of chemicals, which differ from one another by the location and number of chlorine atoms on the molecule.
Dioxin has a high affinity for fatty substances and is found adhered to or dissolved in fat tissue, where it can accumulate.
In porphyrics the dioxin will remain in the fat while one is in remission.
When dieting, losing weight or profusely sweating, the chemical toxins stored in the fat become released.
These toxins are thought to trigger acute attacks of porphyria.
Phyllis Neis MNS NP
What is Chronic Pain in Porphyria?
Many hepatic porphyria patients have acclaimed that true blessings are the days that their pains subsides.
Many porphyria patients are living with chronic pain.
And so just what is this chronic pain?
The word pain describes everything from a toothache or persistent headache to loss of a loved one, or even used to expressed displeasure with unruly children.
Pain is an experience.
Pain is universal, complex and unique to each person who feels it.
Pain does have it's good aspects!
By having pain you are being told that there is something wrong or injured. Such pain goes away when the problem heals.
But chronic pain is persistent discomfort.
Often porphyria pain is difficult to ease and often has no obvious cause.
Porphyria researcher are still today unsure of the cause of the abdominal pain associated with the acute hepatic porphyrias.
PN pain associated with porphyric neuropathy can be endless.
Exercise, nerve stimulation, heat applications along with prescription pain medications often give only temperory relief from such chronic pain.
Bonnie Hedgewick RN
DNA R59W tests in VP
The most widely applicable Variegate Porphyria (VP)test is that for the R59W mutation which accounts for over 95% of South African cases of VP.
With this test however it is uniformly effective in detecting both silent
and expressed porphyria in families who carry the R59W mutation.
However this same test is useless in families with forms of porphyria other than VP, and in VP families with non-R59W VP.
This test also does not differentiate symptomatic from asymptomatic VP.
R59W screening should however be used as a first-line of investigation in family follow-up studies of patients known to have R59W-positive VP.
DNAQ testing may also be used for screening patients in whom the clinical suspicion of VP is low.
Where the suspicion is high however, a negative result must be followed by the standard biochemical porphyrin profile to exclude non-R59W VP, PCT, AIP and all the rarer forms of porphyria.
Ralph Altendorf PhD
Biochemistry & Genetics
Checking Your Feet a Must for Porphyrics with PN
Neuropthy (PN) is commonly associated with the acute porphyrias.
Porphyria patients will notice the the loss of sensation in their feet.
Such a loss of sensation is most often caused by Peripheral
When you experience PN in your feet chances are you are not as
likely to notice sores or injuries. Because of the accompanying numbness there is a chance that if your feet are left unattended they could become ulcerated and infected.
Porphyria patients experiencing PN should check their feet daily. A common foot check should look for any sores, bruises, cuts or infections.
For those porphyrics who have a greater degree of neuropath and have trouble looking at their feet for themselves, a carfetakers should be asked to do
it for the patient.
Porphyria patients should wash their feet daily in warm water. Remember to test the water temperature with the elbow before submerging the feet, or alternatively get your caretaker to check it for you.
Make a point of being sure to dry your feet carefully with a soft towel.
It is imperative that you do not forget to dry between your toes.
Always wear soft comfortable stockings.
Wear shoes that fit your feet well and allow your toes to move
During regular clinic checkups be sure to have a routine foot check as do patients with diabetes.
Monica Stryvold MNS RN
Depression, Fatigue and Porphyria
Another aspects of fatigue is that of depression.
And depression is a common symptom among porphyria patients at one time or another.
Fatigue is a typical symptom of depression.
Porphyria patients often relate that they have a lack of motivation or a loss of energy.
Many anti-depressant drugs are considered unsafe for the porphyria patients. However when a patient is treated with such a drug which is safe for them, they often begin to feel less tired.
Once treatment has begun, the patient will also be more willing to participate fully in a day's activities.
Lack of sleep itself is also a cause of fatigue.
Dr. Kenneth Carlson
Akinesia or muscle weakness Cause Fatigue
Akinesia is often experience. Akinesia is an abnormal state of physical and mental inactivity, or the inability to move the muscles. This medical condition causes the porphyric patient trouble in starting a movement, and this conditions often feels like fatigue.
Porphyric patients who experience akinesia, must move slowly.
They will also find themselves finding it hard to finish a task in a regular amount of time. For instance, everyday tasks such as getting dressed can take a lot of effort.
Many porphyric patients can keep track of the times during the day when their akinesia is better and their medications, such as neurontin, as working well.
It is during these peak times of the day that porphyic patients can undertake the energy-consuming daily tasks, because their movement is easier.
Many porphyria patients when not adequately diagnosed with peripheral neuropathy due to porphyria, often consult rheumatologists thinking that their condition may be the beginning of arthritis or fibromyalgia or fibromyositis.
It is muscle fatigue.
Dr. Kenneth Carlson