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.
Phobias in Porphyric Mental Change
Mental changes often occur during acute episodes of porphyria.
Phobias can present as a part of the mental change.
A Phobia is a persistent irrational fear of an object or a situation.
In the acute porphyrias phobias may develop during an
acute episode of porphyria and then disappear as the
porphyria goes into remission.
Sometimes the phobias that have presented continue to
remain when the patient's porphyria has gone into remission.
Often phobias are nothing but unwarranted fear.
Accompanying the fear is a strong desire to avoid what you fear and,
in some cases, an inability to function at normal tasks in your job and
in social settings.
Phobias that do not leave when the porphyria leaves are
often associated with one of many anxiety disorders instead of the porphyria itself.
Phobias are among several anxiety disorders, which also include panic disorder, post-traumatic stress disorder, obsessive-compulsive disorder and generalized
Each year, anxiety disorders affect about 19 million Americans.
Referral to a psychotherapist can help alleviate unwarranted fears.
Treatment may help reduce your fears and help the patient better manage the object
or situation that causes the patient to be anxious.
Dr. Kenneth Carlson
AST Testing is Valuable Indicator
Aspartate aminotransferase (AST) is an essential part of the Liver functions tests
or liver panel routinely run when a person is suspected of a hepatic condition
including the porphyrias.
For many years Aspartate aminotransferase (AST) testing was known as SGOT.
Serum glutamic-oxaloacetic transaminase is another name for
Aspartate aminotransferase (AST) testing.
Aspartate aminotransferase (AST) is a test that measures the amount of the enzyme
AST in blood serum.
Testing for Aspartate aminotransferase (AST) is done through blood drawn from a vein in a procedure known as venipuncture.
Increases in Aspartate aminotransferase (AST) may occur in patients who are
Other increases in Aspartate aminotransferase (AST) test results can appear after a
person has exercised.
Aspartate aminotransferase (AST) is in high concentration in heart muscle, liver
cells, skeletal muscle cells, and to a lesser degree, in other tissues.
Although elevated serum Aspartate aminotransferase (AST) is not specific for liver disease, it is used primarily to diagnose and monitor the course of liver disease
in combination with other enzymes such as ALT, ALP, and bilirubin.
Diseases that affect liver cells cause the release of Aspartate aminotransferase
Aspartate aminotransferase (AST) and the ALT ratio when both are elevated is
substantially elevated in persons with alcoholic hepatitus.
Other causes of elevated Aspartate aminotransferase (AST) include cirrhosis of the
liver, acute renal failure, pancreatitis, hepatitus, liver cancer (HCC);
and some forms of muscle disease.
Aspartate aminotransferase (AST) is almost always found to be elevated in patients
with the acute porphyrias and PCT.
Jerry Vonasek NP
Niacin in Relation to Acute Porphyria
Niacin is a part of the Vitamin B complex.
Niacin is also known as Nicotinic acid.
Niacin is a water-soluble vitamin.
Niacin is also known as vitamin B-3.
In acute porphyria patients niacin can help reduce the cholesterol levels which
commonly elevate in persons with acute porphyrias.
Niacin in large doses can cause liver damage which is especially important to
remember in the hepatic porphyrias.
Niacin prescribed as a treatment for elevated total cholesterol and other types of
lipid disorders, should only be used with medical supervision due to its potential
for severe side effects.
Normal doses of niacin can be associated with skin flushing
and so it is advisable to use the time released capsules when
taking a niacin regiment.
Niacin is necessary for many aspects of health, growth, and reproduction.
Niacin assists in the functioning of the digestive system, skin, and nerves.
Niacin is important for the conversion of food to energy.
Niacin is found in dairy products, poultry, fish, lean meats, nuts, and eggs.
Legumes and enriched breads and cereals also supply some niacin.
Sheryl Wilson MNS, RD
The EMG in Porphyria PN Diagnosis
For determing Peripheral Neuropathy [PN] a testing by a neurologist must be done.
First there is the simple pin sticking checking for nerve impulse.
Then the rubber tipped hammer to check for tendon reflexes.
Then the biggie... an EMG [Electromyography]
Electromyography is a diagnostic neurolic test to study the potential [electrically measured activity] of muscle at rest, the reaction to contraction, and the response of muscle to insertion of a needle.
The test is an aid in ascertaining whether a patient's illness is directly affecting the spinal cord, muscles or peripheral nerves.
How is the test performed?
The patient lies at rest while the peripheral nerves in various are stimulated through electrodes, and the electrical activity in the muscle at rest, on insertion of the needle, and during the muscle contraction.
The test is sometimes employed as a measure of the muscle tension produced by nercous stress, usually, the muscles of the forehead are tested, since they can indicate relaxation of generalized body tension.
Electromyoneurogra[hy is the combined use of electromyography and neurography.
The two tests offer a more precise means of finding the exact location of nerve damage or disorder.
Dynomometry testing uses a dynomometer [most often a dial guage attached to a spring mechanism that measures the strength of muscles] to ascertain certain physical abilities such as holding an object in the hand. It helps detect diseases of the nerves from the spinal cord to the muscle.
There is negligible risk factor in running this test.
All that is involved is the catheter and needle insertion along with the elctrical instruments.
The pain and discomfort from the test focuses on the needle insertion, which is
usually done without local anesthesia.
This can be quite uncomfortable and at times even very painful.
Intepretation of the tests must be made by a neurologist. In the normal values,
when the muscle is at rest, no electrical activity is observed.
When the muscles contract, the elctromyograph will show a smooth graphic wavelike respresentation of ech contraction.
The graph lines are amplified with the increase in strength of each contraction.
When the values are abnormal,muscle disease will produce a spiked wave pattern.
The shape of the spike depends on the particular disease.
Muscle weakness produces a diminished wave. With myasthenia gravis, for instance,
the waves disappear for a few minutes.
Nerve involvement, as oposed to muscle involvement, usually shows a decreased
frequency of contractions.
Current costs of this test runs from $150 to $350 depending on how many muscles or
nerves are tested.
If all of the extremities are tested, the fee can run to $650. Also, when elctromyoneurolography is used the total cost can run to around $500.
Neurologist consider the test quite reliable and rate it as 90 percent accurate.
As stated by a neurologist, "it is quite quite difficult for a pretender /malingerer
to fake to have muscle pathology when muscles respond to electric stimulation.
Rafael Fayette PA
Protoporphyria which is also known as: erythrohepatic
porphyria, erythropoietic protoporphyria, or proto,
is one of the acute hepatic porphyrias and is an inherited metabolic disease.
Protoporphyria occurs in 10-20 per 100,000 individuals and is
autosomal dominant with variable expression which was not
recognized until 1961.
In childhood cutaneous symptoms of the skin such as burning or itching after
light exposure occurs.
Burning is often accompanied by erythema and edema.
Light through a window pane may evoke the symptoms. Chronic lesions may occur
which cause scarring and thickening of the skin on light exposed areas.
In Protoporphyria, liver disease is the other clinical manifestation and can become
severe in 10% of patients.
Gallstones which are protoporphyrin rich may be present.
Also in laboratory studies, mild microcytic hypochromic anemia occurs in 20-30% of the HCP patients.
In Protoporphyria the bone marrow demonstrates a variable
percentage of erythropoietic precursor with red fluorescence.
The marrow morphology is otherwise normal.
Protoporphyria as a disorder results from a deficiency of the ferrochelatase
activity causing protoporphyrin to accumulate in excessive levels in
erythrocytes, bile, and feces but not urine.
Increased erythrocyte protoporphyrin confirms the diagnosis.
In comparison to iron deficiency and lead poisoning, the increase erythrocyte protoporphyrin is free and chelated to zinc.
In regard to cutaneous findings of protoporphyria, light exposed skin biopsies may
have an amorphous material staining positive for periodic acid Schiff is found in
and around capillary walls.
Please note that this finding is not specific to protoporphyria
and has been reported in variegate porphyria and porphyria cutanea tarda.
Liver biopsy specimens show portal inflammation and
fibrosis along with the deposition of a brown pigment.
In 10% of patients severe liver disease develops and the livers appear black and cirrhotic.
When examined by polarization microscopy the pigment deposits are birefringent and
by electron microscopy demonstrate crystals.
The crystals are composed of protoporphyrin.
For treatment of the cutaneous aspects of protoporphyria clinicans try to increase tolerance to light through oral administration of beta carotene.
While the beta carotene may be useful, results may
not occur until 1-3 months after initiation of therapy.
The only known side affect appears to be the yellow
discoloration to the skin.
To reverse hepatic protoporphyrin accumulation
red blood cell transfusion may be tried.
The use of intravenous glucose is effective in most acute attacks.
If the glucose is slow to respond the use of hematin administration may be tried
which suppress excess protoporphyrin production.
An alternative is oral administration of cholestyramine or activated charcoal to
interrupt the intrahepatic circulation of protoporphyrin.
With the exception of liver disease development the
manifestations of the disease have a favorable prognosis and patients live a normal lifespan.
Rebecca Elkstrom NP
Heptology & Gastroenterology ,