Porphyria Educational Services
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.
Reviewing the Meaning of Chronic Smoldering Porphyria
Chronic illness is not just one illness, or necessarily a classification of illness. Chronic comes from the word "chronos" which refers to the word "time"
In some of the porphyrias "chronic" has been used by various porphyria specialists to denote
an "on-going" smoldering pattern of the disease rather than just being
"latent" without any symptoms, or being "acute" when many many symptoms
seem to exacerbate.
Chronic illness in general terms is a medical condition that just does not
go away. It can last from weeks to months to literally years. Often
chronic illness is genetic, such as with the acute porphyrias.
With chronic illness due to acute porphyria, you have to live with the
condition for long periods of time, and avoid triggering factors for the
entire length of you life.
Such chronic illness may limit what a person can do. A porphyric may not
always be sick, but they will never get rid of their condition altogether.
A porphyric will learn ways of managing their disease. This means
avoiding some lifestyles, foods, environmental treatments and
pharmaceuticals including prescriptions drugs.
Some persons will eventually go into remission for a time by avoiding all
of their triggers, but most will have just slight lingering symptoms which
are a constant reminder of the disease porphyria.
Ruth Whitestone R.N.
Long Term Illness Specialist
Some Basic Terminology for Understanding Genetics
In the disease porphyria we learn that all but one type of porphyria are
inherited. They are what are called inherited metabolic diseases. This
means that in order to be a carrier of such a disease, you had to have
inherited it from at least one of your parents. Anything not inherited is
what is termed "acquired."
So, to have an inherited disease, such a disease like porphyria is
transmitted through genes from parents to offspring.
It is in the "genes" that such transmissions take place. Genes are the
functional and physical unit of heredity passed from parent to offspring.
Furthermore, Genes are pieces of DNA, and most genes contain the
information for making a specific protein.
The entire field of genetics is found in the genome. The genome contains
all of the DNA contained in an organism or a cell, which includes both the
chromosomes within the nucleus and the DNA in mitochondria.
The chromosones are one of the threadlike "packages" of genes and other DNA
in the nucleus of a cell. Different kinds of organisms have different
numbers of chromosomes.
Humans have 23 pairs of chromosomes, 46 in all: 44 autosomes and two sex
parent contributes one chromosome to each pair, so children get half of their chromosomes from their mothers and half from their fathers.
An "autosome" is any chromosome other than a sex chromosome. Humans have
22 pairs of
To be "dominant" a gene that almost always results in a specific
physical characteristic, for example, a disease, even though the patient's
genome possesses only one copy. With a dominant gene, the chance of
passing on the gene (and therefore the disease) to children is
50-50 in each pregnancy.
Our bodies are made up of many cells. Cells are the basic unit of any
living organism. It is a
small, watery, compartment filled with chemicals and a complete copy of the
Michael Braithwaite, Ph.D.
Photosensitivity and the Use of Drugs
Special labels are often attached to the medicine containers of those
drugs that have photosensitive properties within them.
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. However, the most common reaction is an intense or exaggerated
sunburn, but rashes, blistering, swelling and other
skin problems can also occur.
It is important to note here that not everyone who takes these drugs has
Many people have no problems, and others react only mildly.
It is known that photosensitivity is hard to predict, and 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
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.
Fair warning here! Do not be fooled if you have not reacted while taking
one of these drugs in the past . Please note, 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. A good example of this is the use of
With tetracycline for example, some people stay sensitive for several weeks.
With some patients it can sometimes 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.
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.
Photosensivity like porphyria itself, can vary widely from one person to the next. Always take safeguards with medications that can cause photosensitivity. Read the prescription pamphlets fully before taking your first dosage.
Gary Larson RPh
Muscle Weakness Often Present With Acute Attacks
Muscle weakness often presents in association with acute attacks of the
hepatic porphyrias. It is not the key symptom to present like that of
abdominal pain or nasea and vomiting, but quite often muscle weakness
will present before an acute attack goes into remission.
Muscle weakness preentation often adds to the malaise that a porphyria
patient experiences. Many times the muscle weakness will present along
with the peripheral neuropathy adding to the general malaise over the
course of acute porphyrics.
Muscle weakness is a reduction in the strength of one or more muscles.
A person will feel very weak. Such weakness is often subjective however,
because the person will not have measureable loss of strength.
On the other-hand such muscle weakness can be objective when being medically evaluated and a measurable loss of strength is noted by the axamining physician.
Muscle weakness may be experienced throughout the body or more is localized to a specific area, side of the body, limb, or muscle.Such muscle weakness is more notable when it occurs in only one area of the body .
Localized weakness normally may follow a stroke, exacerbation of multiple sclerosis, or trauma to a motor nerve root. In the porphyrias it is often associated wuth the exacerbation of neuropathy in the peripheral nerves.
In normally healthy persons, measurable weakness may result from a variety of conditions including metabolic, neurologic, primary muscular diseases, and toxic disorders. Of course,
the porphyrias are various forms of metabolic disease.
In the porphyrias exposures to certain chemical toxins, including unsafe
prescription drugs, along with pesticides and a variety of household
cleaning products, can cause muscle weakness and peripher nerve damage
resulting in neuropathy.
The porphyrias bring with them varied symptoms, with muscle weakness only
being one of them.
Robert Johnson M.D.
PES Monthly Drug Update
PES drug information does not endorse drugs, diagnose patients or recommend therapy. PES drug information is a reference resource designed as a supplement to, and not a substitute for, the expertise,
skill, knowledge and judgment of healthcare practitioners in patient care. The absence of a warning for a
given drug or drug combination in no way should be construed to indicate that the drug or drug
combination is safe, effective or appropriate for any given patient.
PAXIL is the brand name for the generic drug PAROXETINE. This drug is part of a classification called selective serotonin reuptake inhibitors. It is used to treat depression and other psychological disorders. This drug contains a warning for persons with liver disease, kidney disease, seizures or suicidal thought. The drug is metabolized through the liver.
XANAX is the brand name for the generic drug ALPRAZOLAN
which is a tranquilier, anti-convulsant, and a benzodiazepine. It is used
for the treatment of muscle spasms, anxiety disorders, seizure disorders,
alcohol withdrawal,and insomnia. The drug is photosensitive. The side
effects of this drug include: Clumsiness, drowsiness, dizziness, signs of
addiction, hallucinations,confusion, depression, irritablity, rash, itch, vision changes, sore throat,fever, chills, constipation, diarrhea, nausea, vomiting, difficult urination,. vivid dreams, behavior changes, abdominal pain, headache,
dry mouth. The drug carries a WARNING. Do not use if your have
Porphyria or liver disease.
CENTRIM is a brand name for the generic drug combination of
SULFAMETHOXAZOLE and TRIMETHOPRIM. It contains sulfa as an ingredient.
The drug carries a warning against use in persons with the disease
LOMAC is a brand name for the generic drug OMEPRAZOLE. In
clinical trials this drug was known to elevate liver functions. Some
hepatic failure was noted. The drug is metabolized in the liver. Caution
is listed for persons with liver impairment.