February 2005 PES Bulletin

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 anxiety disorder.
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
Neuropsychiatric Medicine

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 pregnant.
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 (AST).
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
Gastroenterology

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
Dietary Nutrition

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
Neurology

Protoporphyria

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 ,