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Porphyria Educational Services
Monthly Newsletter August 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 patient.

Specific recommendations for the confirmed diagnosis and treatment of any individual must be accomplished by that individual and their personal physician, acting together cooperatively.

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.


Porphyria patients often find their lives filled with fatigue.
The fatigue can seem as much a state of mind as one of the body.
There is a lot yet to know about this common symptom of porphyria, but we do know that fatigue may stem from both mental and physical causes.
At various times all people with a variety ot medical conditions will feel fatigue.
Fatigue will appear whenever a muscle or a cluster of muscles has been used too much during exercise or other physical activity.
With porphyria patients often the stress of everyday life is the cause of fatigue.
Quite often it is doing too much in too little time.
The porphyric will push to get something done and then collapse in sheer fatigue.
When you ask a porphyic patient to describe fatigue it is often very hard to describe.
Not only is fatigue hard to describe but it is also even harder to measure.
Many symptoms of porphyria can cause a feeling of weariness.
Such fatigue can make finishing an activity very difficult.
Fatigue can include slow physical movement, muscle stiffness, depression.
In addiiton such fatigue can include changes in being able to move or sleep.
At other times fatigue is experienced only when medications are wearing off.
Akinesia is often experienced. 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.
Peripheral neuropathy due to porphyria is also to blame for much fatigue experienced by porphyria patients.
PN symptoms such as muscle stiffness, cramping, tremors or seizure activity, and even the difficulty initiating a movement tend to put stress on a person's muscles.
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.
Porphyria patients who experience seizures will find that constant shaking can quickly fatigue the muscles.
Most anti-seizure medications are unsafe for porphyria patients.
However luckily Neurontin also know as Gabapentin works fairly well for controlling seizures and also many patients report that the drug also reduces pain.
Neurontin can be used to treat the symptoms experienced by a porphyric patient, but also needs to be carefully monitored.
Atrophy is another thing that must be evaluated. Muscles that do not move enough become deconditioned and reduced in size.
This is known as atrophy.
The loss of muscle strength decreases stamina and endurance.
Many porphyria patients describe this as fatigue as well.
This is why some exercise needs to be a routine part of the daily life habits of a porphyria patient.
It is well know that people who have exercise as a part of their daily routine experience less fatigue.
In visiting with many different porphyria patients one can find that there is a considerable fluctuation in mobility.
Most find that they experience fluctuations in their mobility throughout any given day.
For those with certain drugs, these periods of fluctuation follow the dosing cycle, such as with neurontin. The porphyric will experience an increase in symptons at the end of a dose.
Some porphyria patients state that they have their best relief from symptoms in the morning after being full rested from a long night's sleep.
Such porphyics often try to get everything done in the morning when they feel well or at least better.
They also know that they need to prioritze their day, because most porphyria patients have learned that with overactivity, they will fall to fatigue.
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.
Again many anti-depressant drugs ar 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.
Sleep itself is also a cause of fatigue.
Many porphyria patients experience sleep disturbances. It may be due to a sleep cycle change, side effects from medications, the onset of an acute attack, restless legs, peripheral nueropathy pain or just the inability to get comfortable.
Sleep disruption or deprivation contributes to daytime sleepiness.
Many porphyria patients because of this fatigue have a strong desire to take naps throughout the day.
One short nap after lunch is considered feasible.
Further napping may cause the porphyric patient to face more problems sleeping at night.
It should be noted here that some medications which are used to treat sleep disturbances may also cause daytime fatigue.
It is known as "you can't find"!
Now what to do with this problem of fatigue.
It is clear that fatigue is a problem for many people with porphyria. In order to get the best possible help for the problem of fatigue, a complete health history and physical exam must be undertaken.
This is necessary to rule out non-porphyria causes.
Sometimes problems that are not asociated with porphyria can be found.
When seeking medical help concerning the fatigue a person should note when they feel fatigued, how long the feeling lasts, and how the fatigue fluctuates with their symptoms and their medications, as well as how badly they feel when it happens.
The reason for noting these things is because it will help identify the reason for the problem.
Some common tips to help porphyria patients avoid fatigue including the following:
* Eat well, getting the right food and necessary carbohydrates for feeling strong and avoiding triggering of porphyria attacks.
* Participating in an exercise program which incorpates both stretching and aerobics.
* Practice good habits such as establishing a regular bedtime.
* Avoid frequent napping.
* Avoid stimulation at bedtime.
* Avoid use of caffeine.
* Be sure to keep yourself mentally active. It is a known factor that boredom leads to fatigue.
* Drink plenty of fluids.
* Be sure that you eat fiber, especially if you are constipated. Constipation encourages fatigue.
* Do the more strenuous daily tasks when your movement is easier.
* Know your limitations.
* Seek assistance when necessary.
* Avoid forcing too many activities into one given time period. This will cause fatigue.

Caroline Simmonson MNS NP
Sleep Disorders

Calcium Important in Porphyria and PN

Calcium is the most plentiful mineral found in the human body. Calcium is a mineral.
Calcium is the basis of teeth and the bones. Bones contain the majority of the body's calcium.Calcium is important for strong teeth and bones and for muscle and nerve function.
Calcium in the human body found in the tissues is concentrated in the form of calcium phosphate salts. Nerve cells, body tissues, blood, and other body fluids contain the remaining calcium. The human body needs Calcium for the growth, maintenance, and reproduction of the human body.
Calcium is essential for the formation of and maintenance of bones so they do not become fragile nor a person loss bone mass or have osteoporosis
Teeth also need calcium to remain healthy.
The bones incorporate calcium into their structure. Like other tissues in the body, bones are continually being reabsorbed and re-formed.
Calcium maintain Blood coagulation.
Another function of calcium is in the transmission of nerve impulses,muscle contraction, and relaxation.
Calcium helps in maintaining a normal heartbeat.
Another function of calcium is the stimulation of hormone secretion, and the activation of enzyme reactions.
The main sources of calcium are dairy products. Such products include cheese, milk, yogurt and buttermilk. For porphyria patients the dairy products are a good source of carbohydrate.
The calcium is not contained in the "fat portion" of milk, so removing the fat will not affect the calcium content. It also does not remove the carbohyrate contains in the dairy product which is essential to acute porphyria patients.
Porphyria patients should drink non-fat skim milk. Milk is a good source of phosphorus and magnesium, which help the body absorb and use the calcium more effectively.Magnesium is vital for porphyria patients in curbing seizure activity and insomnia.
It is good to remember that Vitamin D is essential for efficient utilization of calcium.
Research studies have found that calcium supplements, if taken regularly, help prevent osteoporosis by reducing bone loss.
Bread products and orange juice, are enriched with calcium to make them a significant source of calcium for people whose dairy product consumption is inadequate.
Increased calcium intake for limited periods does not normally cause toxic effects.
With the ingestion of calcium, the urine and the feces easily eliminate any excess calcium.
With a very high regular intake of calcium, there has been found an increased risk of kidney stones in persons susceptible to them.
On the other hand, a very low intake of calcium for a long period of time can lead to calcium deficiency.
Low calcium intake can be a cause of hypertension.
Bone density can be impaired by low intake of calcium.
Low calcium intake can be seen in older persons who have osteoporosis.
For porphyria patients the use of dairy products is a good source of carbohydrate.
For some people, there is an allergy to milk. This condition requires restriction of all dairy products. These individuals may have trouble obtaining enough calcium in their diet and may need to take calcium supplements.
Vitamin D is required for adequate amounts of calcium to be absorbed into the body, and for adequate calcium levels to be maintained. Additional in porphyria patients the use of magnesium also helps in the absorption of calcium and provides other benefits needed by those with acute porphyria.
A total intake of up to 2,000 milligrams per day from dietary sources and supplements is needed. The preferred source of calcium is calcium-rich foods such as dairy products.
One thing that porphyria patients need to remember is that calcium supplements made from bone meal or dolomite may contain toxic substances such as lead, mercury and arsenic.
For the few porphyria patients who need to take iron supplementation it is important to note that calcium can interfere with the absorption of iron. Therefore, do not take both at the same time.
Additionally, calcium carbonate supplements are best when taken with a meal.

Sheryl Wilson MNS, RD

Electrolytes A Must in Porphyria

"Electrolyte": A substance that when dissolved in water conducts an electric current.
And what does this have to do with a porphyric?
What makes up the electrolytes?
The normal electrolytes include sodium, chloride, potassium and to some degree calcium.
When a porphyric loses their electrokyte balance small electric shocks sent through the nervous system signal changes ahead.
Many of these changes exascebate in changes in our mental well being.
They are also thought to contribute to seizure activity, and muscle spasms.
Various disturbances of fluid and electrolyte balance are seen during the acute attack.
Dehydration may occur, owing to persistent vomiting. Hyponatraemia, secondary to inappropriate antidiuretic hormone secretion, may also occur, sometimes first becoming apparent after commencing intravenous fluids.
Hyponatraemia can usually be controlled by restricting fluid intake. To maintain adequate carbohydrate intake while restricting fluid intake, it may be necessary to use higher concentrations of glucose, administered via a central venous line.
When beginning the onset of an acute attack of porphyria it is important to safeguiard one's self by avoiding the nausea and vomiting by the use of safe suppositories to avoid the loss of electrolytes.
Compazine suppositories have commonly been used when vomiting has all ready commenced.
The use of Zofran is found to be most beneficial when a porphyria patient is experiencing nausea but vomiting has not commenced.
The most commonly use and known as safe for porphyrics is that of compazine.
Potassium is another factor and if potassium is falling in lab tests then an added bag of iv potassium along with the glucose can be administered.
When in remission potassium can be easily restored to proper levels by the oral intake of potassium supplements as prescribed by your physician.
Also it well for a person to drink water often to avoid dehydration.
Keep your body well hydrated - in the hot summer months as well as in the dry heated air indoors in the winter.
Drink often. It is better to drink 8 - 8 oz glasses of water throughout the day than to drink three or four 15 - 20oz glasses. The fluid will stay in your body better.
Furthermore, If you are chronically dehydrated, it may take a week of "forcing" fluids before you notice a difference in your hydration.
Until then you may just find yourself going to the bathroom more often.
On average, however, a person should drink eight 8 oz. glasses per day (about 2 quarts). An overweight person should drink and additional glass for every 25 pounds of excess weight; those who exercise or are experiencing hot or dry weather should increase their intake as well. Water is best cold, but not ice water.
Cold water instead of ice water is good not only for taste, but the cold water is adsorbed into the system more rapidly.
Electrolytes are very important to porphyric patients and they should be sure to have them checked regularly and at the beginning of any acute porphyric attack in order to avoid the unnecessary mental changes and other neurological changes that can occur.

Virginia Ackerly MNS, RN, NP
Hydration Therapy

Porphyric Polyneuropathy

There are many neuropathies, but a porphyric based neuropathy is a severe, rapidly advancing neuropathy.
Quite often it begins with the onset of an acute attack of porphyria.
It is often associated with the abdominal pain, psychosis may be part of this in the form of delirium or confusion, and may result in convulsions.
Such neuropathy may be more or less symmetrical polyneuropathy.
It is not a disease, but is rather a symptom or sign of a disease, and in this case, being one of the acute types of hepatic porphyria.
PN, as it is known, is always a likely manifestation of AIP [acute intermittent porphyria] pyrroloporphyria or Swedish porphyria. It is also found in the the Chester type or the sub type dubbed as Dobson's Complaint.
The types are porphyria giving way to PN ware inherited as an autosomal dominant trait.
It is not associated associated with cutaneous sensitivity to sunlight.
The metabolic defect is in the liver. It is marked by an increased production and urinary excretion of porphobilingen and of the porphyrin precusor, ALA. ALA is delta aminolevulinic acid.
In the VP and the HCP types, the peripheral and central nervous systems may also be affected with the PN. In the CEP the nervous system is not affacted by PN.
Studies in relation to the ALAD have not been completed in relation to PN.
The neurologic manifestations in the acute porphyrias are usually those of a polyneuropathy involving the motor nerves, more than the sensory ones.
Less often both sensory and motor nerves are affected.
The symptoms may begin in the feet and legs and ascend, or they may begin in the hands and arms and spread in a few days to the trunk and legs.
This may happen asymmetrically.
Occasionally the weakness predominates in the proximal muscles of the limbs and limb girdles.
Sensory loss, often extending to the trunk, is present in more than 50% of the cases.
Facial paralysis, dysphagia, and ocular palsies are features of the most severe cases, and often simulate Guillian Barre Syndrome.
The CSF protein content is normal or slightly elevated.
The course of the polyneuropathy is variable.
In mild cases the symptoms may regress in a few weeks.
If polyneuropathy is severe, it may progress to a fatal respiratory or cardiac paralysis in a few days.
Polyneuropathy can also advance in a saltatory fashion over a period of several weeks, resulting in a severe sensorimotor pararlysis that improves only after many months and the avoidance of further acute porphyria attacks.
A disturbance of cerebral function (ie., confusion, delirium, visual field defects [fuzzy vision and brain fog]) is likely to precede the severe rather than the mild forms of PN.
Cortical blindness is often seen in the acute porphyrias.
Sometimes such signs and symptoms will not appear at all.
Death may result from respiratory paralysis or cardiac arrest and sometimes from uremia and cachexia.
In the acute porphyrias respiratory paralysis was for a number of years the leading cause of death in porphyria.
Rarely the PN developes without the other symptoms of an acute attack.

Philomene Gillespie NP

Porph Patient Record Keeping

You may well ask why this subject in a PES newsletter.
Because those who have had a long time diagnosis and have learned much along the way can tell you how important patient record keeping can be.
Such documentation can be an asset in obtaining a porphyria diagnosis.
Moreover, such record keeping is essential in apply for SSI disability.
Some good advice follows:

1. Keep a Journal. Document on everything immediately. Do not wait to get sicker!
Days sick.
Work impairments.
Physical impairment.
Mental impairment./ Cognitive function.
Visual impairment.
Ability to operate machinery [including a car/]

2. When dealing with employers, medical insurance, medical providers, and especially social security, make photocopies of everything you send, and everything you receive from them.
Record telephone contacts.

3. For every letter they write-write one back.
Leave a paper trail so your files have everything.

4. Educate yourself and be pro-active when it comes to your disabilities.
. Don't miss a detail .
Write down questions and then ask questions that you have writen down.

5. Give the doctor the list of questions and ask him/her to reply in writing.

6. Have pictures taken of you now, and then as problems occur..

7. Tape record when you visit the insurance doctors.

8. When the doctor writes a report ask for a copy of that report for your files.
Remember that you as a patient can have copies of all of your medica; records.
Usually the initial copy is free and subsequent copies require a handling fee of $10-25.
Be sure to have a copy of EVERY test that has been given you and write notes about your condition when you underwent the test, how the test was carried out, and an errors or elements that could have compromised tests and showed a lower value or negative results. Remember low scores keep a lot of porphyrics without a confirmed diagnosis.

9. Get a copy of your file from workers compensation.
There is a charge for a copy of your file, but it is well worth having when you need to file for any number of benefits.

10. If government agencies turn you down for any reason contact Patient Advocacy and a Works Advocate.
Both are free.
Appeal every negative decision.
Be firm and hang in there. Do not give up. You have rights.

11. When dealing with any insurance company you have to be firm.
Insight: Remember they do not care about you!

12. Join a support group. Share with others their insights. Others have had to travel this path before you and can help you.

13. Take care of yourself-
It is important to heal in all areas of your life.
Insight: Remember the bottom line is they do not believe you and their job is to get you back to work and be done with it!

Diana Deats-O'Reilly, CEO
Porphyria Educational Services