Porphyria Educational Services
Monthly Newsletter June 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.
Drug Labeling and Photosensitivity
Special labels are often attached to the medicine containers of those drugs that have photosensitive properties within them.
My pharmacy uses a different color little stickers that goes on the side of the basic pharmaceutical information.
These labels are put on drugs that may cause an unusual response to the sun and other sources of ultraviolet (UV) light.
This is called "photosensitivity.
There are several reactions that can occur in dealing with photosensitivity.
The most common reaction is an intense or exaggerated sunburn.
However rashes, blistering, swelling and other skin problems can also occur.
Skin can become very fragile.
It is important to note here that not everyone who takes these drugs has a reaction.
It goes along with what is well known to porphyria patients:
No two patients react in the same way to the same drug
or even from one use to the next, or from one porphyric episode to the next.
Many people have no problems, and others react only mildly. It is known that photosensitivity is hard to predict. just because someone else hasn't had a reaction doesn't mean it won't happen with you.
It is also known that the same person can also respond in different ways at different times.
Many factors enter into this.
The amount of medication you take, other drugs or products you're using, and the intensity of UV light -- determine whether reaction will occur.
It also makes a difference if you have Rosacea or if you have PCT, VP or HCP.
Here you must be warned-don't be fooled if you haven't reacted while taking one of these drugs in the past .
Photosensitivity can still occur the next time around.
It must be also noted that in some cases, photosensitivity may also continue after a drug is stopped.
With tetracycline for example, some people stay sensitive for several weeks.
This includes the minocycline which is a common medication for Rosacea.
With some patients it can sometimes be up to several months) after they've finished the medication.
Because photosensitivity is so hard to predict, the best approach is to prevent reactions by always protecting your skin.
In VP and HCP along with the PCT, avoiding the sun and sun reflection such as snow glare or water glare from a lake, is important.
And just because you are separated from the sun by a pane of window glass does not mean you are protected.
Photosensitivity may happen quickly (sometimes in as little as 10 minutes), so even the time it takes to walk to the store, wash the car, or mow the lawn or shovel the snow out of the driveway on a bright winter's day, it can be enough to cause a reaction in some people.
Diana Deats-O'Reilly CEO
Porphyria Educational Services
Neuropathy Associated with Porphyrias
Neurologic symptoms may occur in the central nervous system.
The CNS includes the brain and spinal cord, or the peripheral nervous system, which links the spinal cord to all other parts of the body.
The CNS is key among the signs and symptoms of the acute porphyrias and the co-existing neuropathy which occurs.
The extensive network of peripheral nerves helps the muscles contract. These are known as the motor nerves.
These contractions allows the patient to feel a range of sensations. The feeling of sensations comes from the nerves known as sensory nerves.
Moreover, the peripheral nerves help control some of the involuntary functions of the autonomic nervous system, which regulates your internal organs, sweat glands and blood pressure.
The autonomic nervous system in the acute porphyrias is often identified in action through profused sweating, fever, elevated blood pressure, tachycardia and other signs and symptoms most apparent during acute episodes of porphyria.
PN in the porphyrias happens when nerves are damaged.
Peripheral nerves are fragile and easily damaged.
Damage to a peripheral nerve can interfere with the communication between the area it serves and the brain, affecting the porphyria patient's ability to move certain muscles or feel normal sensations.
The symptoms of a porphyria patient will depend on what is causing the neuropathy and on which nerve or nerves are involved.
In PCT patients the cause is often alcohol related.
In the acute porphyrias often the use of neurotoxic drugs can be found to be the culprit.
If the motor nerves are affected, the porphyria patient may experience extreme weakness or paralysis of the muscles controlled by those nerves.
When a patient has damage to nerves that control certain functions of the autonomic nervous system, the patient might have bowel or bladder problems.
Some porphyria patients have been known to experience a sharp drop in their blood pressure when standing up or sitting up from a laying position.
Syncope is not uncommon.
Repeated acute episodes of porphyria can also contribute heavily to nerve damage and PN.
When a sensory nerve is damaged, the porphyria patient is likely to experience pain.
Numbness, tingling, burning or a loss of feeling is commonly present as well. These symptoms often begin gradually.
The porphyria patient may have a tingling sensation or numbness that starts in the toes or the balls of the feet.
The sensation will often spread upward.
Tingling might also begin in the hands and extend up the patient's arms.
In some cases a porphyria patient's skin may become so sensitive that the slightest touch is agonizing. This is especially true among the HCP and VP porphyria patients which all ready have skin sensitivity involvement.
An acute porphyria may also have numbness, or even a complete lack of feeling, in their hands or feet.
Acute porphyria patients often note that their symptoms may be barely noticeable.
To the contrary, acute porphyria patients may at times, especially at night, find that neuropathy pain can be almost unbearable.
Some porphyria patients find that their symptoms are constant.
Some patients experiencing PN characterize the pain as that of a jabbing pain, being sharp or being like an electric shock.
Many porphyria patients descreibe their PN as being extremely sensitivity to touch.
Often a porphyria patient with severe PN will complain of a burning sensation.
The goal of treatment in PN is to manage the underlying condition causing the neuropathy and to repair damage.
Ginger LaHaise NP
Porphyringenic Chemicals and Pharmaceuticals
Nearly 3,800 chemicals in use today have been researched and found to be porphyringenic.
This is a serious problem for many porphyria patients.
Many porphyria patients, have found themselves with a high degree of sensitivity to a large variety of chemical toxins.
Such chemicals which are porphyringenic interefere with the human body's ability to send oxygen to it's various parts.
Such oxygen is sent around the body through the hemoglobin which made up of heme.
The heme in the liver is most necessary for producing the needed cytochrome P-450.
Dr. David Flockard of Indiana University is one of the foremost researchers of pharmaceuticals which involve cytochrome P-450.
The Cyctochrome P-450 function in the body is most vital in the detoxification of pharmaceuticals and other chemicals.
When porphhyria patients are exposed to drugs and chemicals which are considered unsafe, that adversely effects the cyctochrome P-450 production.
These chemicals and drugs are known as being porphyrinogenic.
It must be noted that there are a large number of porphyrinogenic chemicals and drugs that people are exposed to daily.
Foremost are the sulpher containing components.
Included are all of the sulfonamides and the sulfonylureas.
Another one is that of vinyl derivatrives which are found in many of today's household and office products.
Other harder to detect substances include cyanine dyes, aldehydes, benzene derivatives, acetylenes, aluminum, heavy metals, and a host of others.
Some of the chemicals not only produce a porphyrogenic result, but go on to produce a porphyrin enzyme triggering defect.
When such a defect has been triggered in a porphyria patient, whether they have inherited or acquired porphyria, such a defect can not be reversed.
With such a defect established any exposure, even a slight amount to any of the unsafe chemicals or pharmaceuticals can go on to exacerbate into an full blown porphyria attack.
Other chemical toxins while in themselves will not cause an enzyme defect, will however tend to exacerbate porphyria symptoms if a porphyrin enzyme defect is in place.
For those who frequent the highways and are caught in rush hour traffic, especially during the winter months when exhaust fumes tend to hang low over the roadways,
remember to close vents on your windows and have all windows closed.
Prolonged exposure to carbon monoxide in normally healthy people can cause nausea and headaches, but for those with porphyria enzyme defects the toll can be far greater.
JoEllen Sommerfield PhD
Professor of Biochemistry
Importance of Family Medical History in Porphyria
Family medical history is important when trying to obtain a diagnosis of porphyria.
Moreover it is important in looking at the various symptomology of other family members with the same disease.
Knowing other family members and what they have gone through, how the disease presents within them, and their coping strategies is most important.
So how does one go about this task?
First of all you must inquire about the health of each family member through second degree relatives.
This will include your grandparents and even your first cousins.
You will need to pay special attention to any signs or symptoms related to your condition which can be found in relatives.
Always inquire about causes of any deaths, including any stillbirths or early deaths, or institutionalizations.
Try to obtain both medical and death records of relatives as well.
Also be sure to inquire about any possible consanguinity.
Although often unpleasant, it is important to recognize that false paternity does occur.
Chart all of the porphyria symptomology.
Make photocopies of your findings along with the medical charting and death notices.
Fix a porphyria binder with all family charting divided into one section.
In another section chart all of your own allergic reactions, triggers, contraindicated drugs, chemical toxins and foods.
Collect every tidbit related to your health and porphyria symptomology
Carol Sherman, RN, MNS
Genetics and Inherited Disease