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Disclaimer
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 patient. .

Specific recommendations for the confirmed diagnosis and treatment of any
individual must be accomplished by that individual and their personal
physician, acting together cooperatively. Porphyria Educations Services in no
way shall be held responsible in part or whole for any injury, misinformation,
neglience, or loss incurred by you. In reading the monthly newsletters you
need to agree not to hold liable any contributing writers.



FOCUS: Porphyria Names

Porphyria is a group of at least eight inherited metabolic disorders and/or one acquired disorder all characterized by excess accumulation of the natural chemicals "porphyrins" or "porphyrin precursors" in the body.

The different types of porphyria vary in their clinical presentation. Even within one given type there may be variants and a number of sub-types.

Anoother twist to this group of disorders is the variants in the names applied to the various types, as well as to the different classifications of the disorders. Clinical findings associated with the disorders generally include skin problems which are identified as "cutaneous" disorders; or nervous system manifestations which are known as
"neurological".

Again another type of classification is that of "hepatic" or "bone marrow" porphyrias.

Sometimes these symptoms are so ill-defined that proper diagnosis is delayed. The urine of some patients is a purple-red color or changes to that color when exposed to light. But again there are variances. Some patients have urine that changes to various shades of orange, some with a green or blue cast, and moreover many with a dark tea coloration.

Porphyria can be confusing to say the least. It is hard to diagnose if specifics are not known and if you are not looking for it. Many medical care providers have never experienced a porphyria patients. Moreover most of the symptoms of porphyria patients mimic other more well-known medical conditions.

The names alone become confusing.

Acute Intermittent Porphyria [AIP] is also known as Swedish porphyria, Waldenstrom's
porphyria, Porphyria Hepatica; or Pyrroloporphyria.

ALA-D Porphyria [ALAD] is also known as Plumiporphyria or ALAD-Deficiency Porphyria.

Congenital Erythropoietic Porphyria [CEP] is also known as Gunther's Disease, or
Congenital porphyria.

Erythropoietic Protoporphyria EPP] is also known as . Protoporphyria.

Hereditary Coproporphyria [HCP] is also known as Coproporphyria

Porphyria Cutanea Tarda [PCT] may be inherited or adacquired, and is also known
as Cutaneous Hepatic Porphyria, [inherited or acquired], or Familial PCT [inherited type]

Variegate Porphyria [VP] is also known as South African Genetic Porphyria.

Subtype variations of VP which are also akin to AIP include Dobson's Complaint [subtype of VP/AIP] and Chester Porphyria [subtype of VP/AIP].


Diana Deats-O'Reilly, CEO
Porphyria Educational Services



FOCUS: The Composition of Porphyrins

So just what is a "porphyrin"?

Porphyrins are tetrapyrroles. Porphyrins are composed of four weakly
aromatic pyrrole rings joined by methene bridges.

The poorphyrin rings are numbered with Roman numerals I through IV, starting at the top and
proceeding clockwise. [right to left] The methene bridges are identified with the Greek letters beginning with alpha running through delta.

This progression proceeds clockwise. Positions at which branches could be attached are numbered 1-8, starting with the I ring, and continuing on clockwise. The structure is often represented in a cross-shaped form. The common
branches are often abbreviated as follows:

A = acetic acid (or CM = carboxymethyl)

P = propionic acid (or CE = carboxyethyl)

M = methyl

V = vinyl

Janice Olson, MS
Biochemistry Teaching Assistant



FOCUS: Symptomatology of the porphyrinopathies

The symptomatology of the porphyrinopathies is made up of many variables. Various symptoms vary from one type of porphyria to another. Likewise various porphyria patients even with the same type of porphyria will have variants in their symptomology.

In looking at the symptomology one must first consider all of the "primary complaints". Secondarily one then must look at the associated symptoms. And Lastly the examiner must then look to see what exacerbated the condition.

In examining the porphyrias it is first necessary to divide the two major classifications ofporphyria: [1] the neurological; and [2] the cutaneous [skin] manifestations.

In the "Neurologic Presentations" the examiner will most often find the porphyric patient complaining of abdominal pain; nausea; vomiting; constipation, seizures, headaches; difficulty in concentration; personality changes; weakness; muscle and joint aches; unsteady gait, poor coordination; numbness, tingling of arms and legs; fluid retention [edema] ; rapid heart rate [tachycardia] ; high blood pressure; increased or profused sweating; and intermittent fever.

Laboratory testing will often find the patient with hypokalemia [low potassium], elevated SGOT, often the Alkaline phospatase is also elevated.

The main contributing factors to the neurological symptoms include:low carbohydrate diets (skipped meals); intake of alcoholic beverages; exposure to pesticides, fungicides, herbicides, formaldehyde containing agents, pharmaceutical including sulfa drug antibiotics, barbiturates, estrogen, birth control pills; exposure to other toxic chemicals to numerous to list here.

In the "Cutaneous Presentations" of porphyria there are changes in skin pigmentation; changes in facial hair; fragile skin; rashes; blistering. Often there is dark-colored urine especially after it is exposed to sunlight, and above neurologic symptoms may be present as well.

In the cutaneous porphyrias the neurologic factors that trigger porphyria as valid with most cutaneous forms of porphyria. Skin symptoms are made worse by exposure to sunlight. Copper or brass jewelry exacerbates reaction.


Dr. William Linton
Medical Diagonostics



FOCUS: Porphyria Urine Testing Dynamics

One of the biggest problems in porphyria testing is the basic porphyria urine test.

More than one porphyria patient came up "empty-handed" when they thought for sure that they would have "positive" urine porphyrin results. Unfortunately, and all too often, urine porphyrin testing is compromised somewhere along the process.

Many times the chain of events leading to a compromised and "negative" urine porphyrin test stems from the initial lab order for test collection apparatus. Many times laboratory technicians unfamiliar with the porphyrias fail to include the preservative in the collection container, or some times place the wrong preservative solution in the container.

The next point in which many urine collection become compromised is during the actual testing process. The urine collection container is the not kept refrigerated during the entire process in a refrigerator which runs between 36 and 40 degrees F. Porphyrin counts fall when urine remains warm or is exposed to heat.

The collection is also compromised when the contents is exposed to light and air. Porphyrin levels in the urine will drop significantly.

When a test is ordered the ordering physician should also ascertain which medications the patient is currently taking. Some medications will alter the results of a urine test.

The next point of compromising test collections comes when a patient submits the collection container to the lab drop-off. Too often collections are left sitting on the reception counter rather than being immediately refrigerated and ultimately sent to the major testing center.

When urine collections have been compromised, test results mean disappointmentfor the patient waiting to have a confirmed diagnosis of their medical condition. In addiiton it often leads to negative reception by the ordering physician causing some patients to be imagining their medical condition. It also means that more costs will arise when further testing is undertaken. Some medical insurance providers have limits on the number of times a certain testing procedure can be administered.

Once a collection is sent to the testing laboratory there are still variables that will
cause negative test results in a known porphyria patient.

Reference ranges vary depending upon the calibration standards of the laboratory doing the analysis.

The reference range (in units of nanomoles/24 hr) is set to accentuate sensitivity (i.e. more patients with true porphyrinuria being detected at the risk of an increased false-positive rate).

Please note that a multiplication factor to convert values to micrograms/24 hr are shown in
parentheses on most test results as follows: uroporphyrin, 41 (0.830); 7-carboxyporphyrin, 14 (0.787); 6-carboxyporphyrin, 6 (0.743); 5- carboxyporphyrin, 5 (0.699); coproporphyrin I, 40 (0.654); coproporphyrin III, 79 (0.654).

The reference range for the particular laboratory conducting the analysis should be used. Not all laboratories use the small analysis scale and therefore results in misunderstandings by both physicians and patients.

While inherited disorders in the enzymes of heme biosynthesis are relatively rare, such a possibility should be considered if urinary porphyrins are greatly elevated. In some labs the ordering physician is contacted directly, while most simply receive a hard copy of the results and often without explanation. This leads to more confusion.

When initial results are elevated primary care physicians are encouraged to consult a specialist in inherited disorders if such a disorder is suspected.

When evaluating urinary porphyrin results to arrive at a diagnosis of metal or chemical toxicity, the following should be ruled out: use of ethanol, estrogens, oral contraceptives, antibiotics, sedatives, analgesics, dietary brewer’s yeast. The primary care physician must a also rule out pregnancy, liver disease, malignancies, hematologic diseases such as pernicious or iron deficiency anemias. All of these factors can change the outcome of porphyrin levels.

One last factor is remember is thathe detection of precoproporphyrin is specifically diagnostic for mercury toxicity.

Dr. William Linton
Medical Diagonostics

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NEW UNSAFE DRUGS RECENTLY ANNOUNCED UNSAFE


DILAUDID  a brand name which is known as HYDROMORPHINE HYDROCHLORIDE in it's generic form,
can  be habit forming drug. It is a hydrogenated ketone of morphine and is a narcotic analgesic. DILAUDID should be used with caution in persons with  impaired renal or hepatic function, or/and   hypothyroidism,  The drug is metabolized through the liver. It is an opiate agonist drug.

ANTIPSYCHOTIC DRUGS and Tardive Dyskinesia [TD] TD is a  syndrome of potentially irreversible, involuntary, dyskinetic movements that can develop in  patients treated with antipsychotic drugs. Currently it is impossible to predict, at the inception of antipsychotic treatment, which patients are likely to develop TD. The risk of developing TD and the chance  that it will become irreversible are thought to increase as the contuation of treatment and the total cumulative dose of antipsychotic drugs administered to the patient increase.

SEROQUEL is the brand name for the generic drug  QUETIAPINE FUMARATE which is in the drug class of Antipsychotics. SEROQUEL in combination with other drugs have not been extensively
evaluated in systematic studies. The drug  has a warning in regard to being prescribed for persons with hepatic disease.  It is metabolized through the liver.

PERCODAN is the brand name for the generic drug OXYCODONE.This drug can produce drug dependence of the morphine type  The administration of Percodan or other narcotics may obscure the diagnosis or clinical course in patients with acute abdominal conditions such as a porphyric attack or other medical conditions. PERCODAN should be given with caution to  patients such as the elderly or debilitated, with  impairment of hepatic or renal function,or/and  hypothyroidism. The drug is metabolized through the liver.
 Another brand name for this drug is PERCODAN-DEMI.

 

 


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