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.
Abdominal Pain Experienced By Most Acute Porphyrics
One of the things that most acute porphyria patients experience is that
colicky pain in the gut. Some call it stomach pain, others refer to it as
belly ache or crampings, but most porphyrics refer to the pain as "ab pain".
Ab pain usually happens in the abdominal area and often to the right of the
belly button. Some porphyria patients describe it as "liver" pain.
In porphyria the abdominal pain is a nonspecific symptom because the pain
can not be identified as being associated with any other specific condition
which would normally present with abdominal or stomach pain.
Some abdominal pains do not occur within the abdomen itself but cause
Other abdominal pains originate within the abdomen but are not related to the
gastrointestinal tract, and then some abdominal pain is related directly to
the gastrointestinal tract.
Abdominal pain associated with acute porphyria is very non-specific. Often
the pain can become quite severe. Many porphyria patients have had their
abdominal pain atributed wrongly to early appendicitis or colon cancer,
often having the porphyria patient undergo needless surgery, and often
exposing the porphyria patient to unsafe drugs during such unnecessary
Even if surgery is not performed, often diagnosis tests are performed.
In the case of abdominal pain from acute porphyria, more than one diagnostic
test is used due to the fact that testing reveals no cause of the porphyric
abdominal pain, and so more tests are ordered. Such tests often include a
barium enema, upper GI and small bowel series, blood, urine, and stool tests,
endoscopy of upper GI (gastrointestinal) tract (EGD),an ultrasound of the
abdomen or X-rays of the abdomen. Of course a series of laboratory tests
are run on blood samples.
Because abdominal pain is nonspecific, in an undiagnosed porphyria patient
the health care provider will need to know much more information regarding
the time of onset and duration of pain (minutes, hours, days, or even months).
Specific location of pain, and the specific nature of pain (dull, sharp,
steady, crampy, off and on), needs to be defined as well. Severity of pain
is vital to know and it is important to be able to identify one's pain
severity on a scale of one to ten.
In the case of women patients, the abdominal pain must be considered in
relationship to normal functions such as menstruation and ovulation.
Even in diagnosed porphyria patients, abdominal pain may indicate a potential
emergency. Porphyria patients can experience other abdominal pain which is
indicate of other more common medical conditions such as appendicities,
diverticulitis, or bowel obstruction.
Other more common causes of abdominal pain can include bladder infections,
gallstones, excessive gas, endometriosis, kidney stones, ovarian cysts,
ulcers or uterine fibroids.
Usually the abdominal pain associated with acute porphyria is present during
the acute attacks but is absent during periods of remission. However in
those patients which tend to become more or less chronic in nature,
abdominal pain can be present most of the time and becomes a normal way of
life for such porphyric patients.
Haz Abdullah P.A.
Sulfonamides Are Unsafe For Porphyria Patients
Sulfonamides have long been known as being unsafe for porphyria patients.
Sulfonamide and trimethoprim combinations are often used to prevent and
This combination is commonly prescribed in the treatment of UTI's
(urinary tract infections), which also are heavily experienced by acute
In addition the sulfadiazine and trimethoprim combination is used to treat
infections, such as bronchitis, middle ear infection, and traveler's
diarrheas as well as used for the prevention and treatment the (PCP) form of
However for the porphyria patient other forms of treatment must be used since
any medication containing sulfonamides is considered contraindicated for use
by a porphyria patient.
Bactrim, Cofatrim Forte, Coptin, Cotrim, Cotrimazine, Cotrimazine, Septra,
Sulfatrim, Novo-Trimel, Nu-Cotrimox , Roubac and SMZ-TMP are common brand
names of sulfonamide and trimethoprin combinations.
In deciding to use a sulfonamide, the risks of taking the medicine must be
weighed against the good it will do. This is a decision you and your PCP well
established that this medication may bring on an attack of porphyria in acute
For other porphyria patients the sulfonamide and trimethoprim combinations may
cause your skin to be more sensitive to sunlight than it is normally.
Exposure to sunlight, even for brief periods of time, may cause a skin rash,
itching, redness or other discoloration of the skin, or a severe sunburn.
Robert Johnson M.D.
Alopecia Exacerbated In Some Forms Of Porphyria
Alopecia is the partial or complete loss of hair. In some forms of porphyria
alopecia is exacerbated.
Often porphyria patients find themselves with a worse reaction to the diagnosis
of alopecia than their original diagnosis of porphyria because hair loss is a
Women are more prevalent with the loss of hair in association with porphyria, and
women traditionally are more sensitive in regard to outward appearance.
Women all ready by this point do not feel well, perhaps are troubled with
peripheral neuropathy, blistering or continued vomiting, and muscle weakness.
Now they must deal with alopecia.
This is often a bit too much to handle.
Medically, the loss of hair is generally determined by multiple genetic factors
with porphyria just one of many genetic factors.
An old wise tale would often abscribe alopecia as coming from the motherís line
or anyone elseís, or that it skips generations.
It is found in medical science that both men and women lose hair density as they
age. It is known as "getting older".
More often alopecia most often presents on the scalp. Alopecia usually
develops gradually and quite often has the appearance of being patchy.
Only a small percentage of persons with Alopecia have baldness caused by a
disease itself, but alopecia in general is genetic. It is often referred to as
an inherited pattern of baldness, and generally affects men more than woman. In
porphyria it tends to affect more women.
While speaking of hairs, itis common in normally healthy people to loose up to
100 hairs every day. Most people have about 100,000 hairs in their scalp. The
life of an average hair runs about 4.5 years.
Genetic baldness is caused by the bodyís failure to produce new hairs and not
by excessive hair loss.
Some of the co-triggering factors of alopecia in addtion to normal hair loss
and the presence of porphyria include:emotional or physical stress , serious
illness, fever, medications, and hormonal changes.
For hair loss caused by illness, the hair will usually grow back when illness
has gone into remission or certain medications have been stopped.
Most hair growth treatments are contraindicated for porphyria patients and
should not be attempted less triggering more porphyria manifestations.
William Lewis, M.D., PhD.
ALA-D Chromosone Is One Of The Rare Porphyria Types
The ALA-D chromosone is one of the rarest porphyria types. Genetically the
ALA-D chromosone is fixed at 9q34. While most acute hepatic porphyrias are
of a dominant trait, the ALA-D chromosone is recessive.
Many ALA-D porphyria cases are diagnosed in early childhood. Often it is noted
as an acute infantile hepatic disorder.
It has been documented that peripheral neuropathy in ALA-D porphyria is not
well described .
Other things noteworthy about the ALA-D chromosone is that hemolysis has
been found in some patients.
Another factor is that heterozygotes are susceptible to lead intoxication.
The clinical laboratory features of the ALA-D chromosone include elevated fecal
coproporphyrin and protoporphyrin even between acute attacks. However in
ALA-D chromosone type porphyria there is found normal porphobilinogen which
is normally elevated in the other neurological acute porphyrias.
Dr. Myron Simpson, PhD
Biochemistry & Metabolic Diseases
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.
CELEBREX is the brand name for the generic drug CELECOXIB.
The drug is primarily prescribed for the pain relief of arthritis. This drug
should not be used by persons with liver disease. The drug is metabolized
through the liver.
ZEFXON 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
DECATONA is a brand name for the generic drug PHENYTOIN. Another
name is DILANTIN. It is an antiepileptic drug. It is related to
barbiurates in chemical structure.The liver is the chief site of
biotransformation of phenytoin; patients with impaired liver function and
porphyria should not take this drug.
AUDAZOL is a brand name for the generic drug OMEPRAZOLE. In
clinical trials this drug was found to elevate liver functions. The drug is
metabolized through the liver. There is a warning for persons with hepatic