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.
ARM & HAND WEAKNESS IN PORPHYRIA
Hypaesthesia is often experiences by porphyria patients. Hypaesthesia
is having a diminished feeling in the extremities, and especially in the
fingers and toes, hands and feet.
Anaesthesia in peripheral neuropathy is the absence of any feeling..
In many of the peripheral neuropathies experienced by porphyria patients the
neurologist is faced with determining whether such neuropathies are diminished
or absent. .
Porphyria patients often can not tell the different or are unaware that there is a
difference. Also many times such PN may be confused with PN resulting from
other medical conditions such as diabetes, MS, or be the result of chemotherapy
treatment for cancer..
Manual dexterity problems can occur with PN. Many porphyria patients learn
that their sense of touch and feeling are greatly altered or in some cases
non-existent or they have difficulty in walking..
There is also that which is referred to as 'Glove and Stocking’ sensory loss..
Neuropathies such as this give rise to loss of sensation in the hands, feet
and lower legs, the distribution resembling gloves and stockings..
The porphyria patient experiencing polyneuropathy may also find that they are
not able to carry much because of weakness in their arms.
These patients quite often complain of finding themselves dropping things.
They have a personal sense of being clumsy which often times is a facade
that will mask the correct assessment of the PN and it's progression..
Such poly neuropathetic symptoms are common, and it may mean that the
porphyric patient experiencing such symptoms will get frustrated with themself
and others around you..
Learning to accept minor limitations and also learning ways of compensating will
go a long ways in helping to deal with loss of limb activity..
Often such physical change is temporary and therefore transient. However in
some cases where permanent nerve damage has taken place, a good physical
therapy and rehabilitation program must be undertaken. .
Renae Stillman PTA
PORPHYRIA PAIN REDUCTION WITH NSAIDS
And just what are NSAIDS?
The Non-Narcotic Analgesics NSAID reduce inflammation and relieve pain by
affecting arachidonic acid metabolism.
While the NSAIDS are used safely and effectively by millions of people they are
often associated with adverse effects, particularly in patients who are in high-risk
groups, including porphyrics.
GI complications are the most common adverse effect of NSAIDS.
One of the most used NSAIDS is Acetaminophen [Tylenol], however this drug is
metabolized in the liver and should not be used by patients with the hepatic
forms of porphyria.
Robert Johnson M.D.
RESEARCH STUDIES RELATED TO PORPHYRIA
DNA family mapping of porphyrics is being directed by Dr. Robert J. Desnick MD
at Mt. Sinai Hospital in Manhattan, New York. Dr. Karl E. Anderson continues on
research related to the use of heme arginate in porphyric patients.
Other porphyria studies deal with drug testing, studies focusing on porphyric
women and cyclic manifestations. Some studies focus on chemical toxicology. In
addition there are countless other porphyria studies worldwide that look at
different aspects of the disease.
Dr. Michael Moore's drug reporting site is a simple but most useful research tool.
All that is required is to fill in the information on every drug you take, whether the
results are good or bad, and that way researchers can deem a drug as "safe" or
"unsafe" by looking at the feedback.
Researchers are obligated to protect the rights of people who participate in their
research studies. The research participants. themselves, also can protect their
own rights by being aware of what those rights are by being assertive in asking
questions about the study.
Research is important in improving the healthcare of people, however, it must be
conducted in a way that is respectful of the rights of the people participating.
Porphyria patients who are in close proximity to any of the research testing sites
or study centers
are encouraged to inquire and perhaps to participate in the ongoing investigative
studies. Clinical trials in relation to porphyria patients requires porphyria
patients to be test subjects
Tsu Lim, PhD
EMOTIONAL ASPECTS OF PORPHYRIC NEUROPATHY
The porphyric patient who experiences peripheral or polyneuropathy, may
experience a variety of emotions and changes in self-concept.
Loss of normal everyday functions such as touch, paresis, numbness, and
pain become problematic for many as the symptoms first set in.
Some porphyria patients find themselves wanting to shy away from friends,
family, work or social gatherings because they find that they cannot lift their feet
because of foot drop.
These porphyria patients may find that their legs feel heavy and that they
fatigue very easily. Often they feel they can not carry their "normal load" at work
or elsewhere. Some feel like they are becoming a burden.
Furthermore the porphyric patient may find walking very difficult and may be
prone to tripping.
They may also find that they are not able to carry much because of weakness in
their arms. Quite often they complain of finding themselves dropping
All of these symptoms are to be expected. Because of this it may mean that you
get frustrated with yourself and others around you.
One of the PN aspects that is hard to describe but is experienced at one time or
another by most porphyria patients is that of the "loss of position sense."
This is another unusual feeling. It is describe by porphyric patients as " your
brain knows where your feet should go, but your feet have a mind of their own."
Many times the porphyric patient may become conscious about the way
that they walk, but they can not for the life of them understand why it
Without realizing it the average porphyria patient will probably re-educate the
way that they walk, possibly widening their gait or throwing their leg.
They will probably have difficulty keeping their balance especially in the dark
and find that they will have to look at the ground to compensate for the loss of
Most beneficial is having the ability to visit in a small group setting or
one-on-one with another person who has experienced the same types of
Also beneficial is self-realization that peripheral neuropathies do occur
but that they need not be self-limiting, in that today more than any other
time in our history, people with physical challenges can remain in the
mainstream of life.
Roger Collison PA
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 judgement 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.
ALADDIN is a brand name for the generic drug PHENYTOIN.
Another name is DILANTIN. It is an antiepileptic drug. It is related to
barbiturates in chemical structure. The liver is the chief site of biotransformation
of phenytoin; patients with impaired liver function and porphyria should not take
ANJAL is a brand name for the generic drug
HYDROCHLOROTHIAZIDE TRIAMTERENE. It is classified as a
diuretic. It can cause liver enzyme abnormalities. It can also cause renal failure.
This drug can also reduce levels of blood serum potassium essential to
electrolyte balance. This drug also contains the ingredient of sulfate.
ZAPEX is a brand name for the generic drug OXAZEPAM. It
belongs to the BENZODIAZEPINE class of drugs. The drug contains
sulfates. The drug carries a warning against use in persons with the disease
PLAQUENIL is a brand name for HYDROXYCHLOROQUINE.
It is an antirheumatic and
antiprotozoal drug. This drug carries a warning against use by person with liver
and those with porphyria. ***This drug however is a drug treatment of choice for
specific form of porphyria, but unsafe for all other forms.