December 2005 PES Bulletin

Diagnosis of Ab Pain in Acute Porphyria

The majority of porphyria patients with a confirmed diagnosis of acute porphyria can recall the unexplained abdominal pain that has made it's presence known time and again.

Often the porphyria patient has been made to feel "suspect" or told that they were "imagining it" or that the pain was "all in their head".
Abdominal pain accounts for 42% of emergency department visits in a study that was made and a report that recently released.
Physicians know well that hardly a day goes by that they have at least one patient presenting with a case of abdominal pain on their shift.
There are many possible causes for abdominal pain. For the physician, whether the family physician and primary care provider, or for the emergency room doctor, the challenge lies in distinguishing between the seriously ill patients who require immediate attention and those who can safely be sent home.

And what of this pain? What is it's cause?
And how often does this pain present?
Skillful history taking and physical examination are often sufficient for the task, although imaging studies may be needed such as xray, CT scans, MRI or doppler.
Distinguishing between the different causes of abdominal pain will be the major task presented for the physician.
Furthermore, interpreting important laboratory data, and ordering the right study to affirm a diagnosis, is equally challenging and foremost.
When a patient presents several times with the same symptoms, often, all the information the physician will need to make the correct diagnosis will be contained in the history and physical exam.
And one more step is to get a thorough medical history log of the patient's family which includes the patients and sibblings.
Here within lies the answer of possible genetic disease.
Differential diagnosis as it is termed, is of foremost importance with a patient which presents time and again with the same abdominal pain.
The physician must rule out all of the following and can do so easily by asking the right medical history questions.
Diagnostic possibilities in acute abdominal pain include -- but are not limited to -- (1) acute cholecystitis, (2) appendicitis, (3) biliary or renal colic, (4) ectopic pregnancy, (5) intestinal obstruction, (6) pancreatitis, (7) pelvic inflammatory disease (PID), (8) perforated peptic ulcer, and (9) ruptured abdominal aortic aneurysm (AAA). Things to be kept in mind by the physician examining a hepatic porphyria patient are the cardiac risk factors especially if the patient complains of nausea and vomiting along with the abdominal pain.

It is not the usual scenario for cardiac problems and more often is gastroenteritis. But abdominal pain can be life threatening and especially when it involves cardiac problems.
In examining a patient with unexplained abdominal pain, it is foremost to consider the worst possibilities first as those require immediate intervention.
Acute appendicitis is always one of the first things to be considered on a check list.
With a majority of porphyria patients, their appendix was removed unnnecessarily because it was thought to be the cause of thje abdominal pain at some earlier time.
Intestinal blockage has also often been an incorrect diagnosis for porphyic abdominal pain. However, it is most important to begin hydration of a patient who is suspect for porphyria.
Long hours of waiting in an examination room only adds to the problem of the acute attack.
Early administration of glucose infusion will in fact reduce the pain index within a few hours as it is the action of the carbohydrate infusion that corrects the over production of porphyrins in the liver.
And while porphyric pain is not well understood, but nevertheless is a known factor, the administration of glucose will stop the overproduction of porphyrins and at the same time reduce the abdominal pain which signals the onset of acute porphyric attacks. Porphyria is not an everyday scenario in the clinical setting unless a physician is a porphyria specialist.
It is hoped that all primary care providers will keep an open mind in dealing with unexplained abdominal pain.
The signs are not alway clear cut, and porphyria does require a high degree of suspicion.
But always remember that in porphyria patients that the pain while hard to determine, is real, and not just a imaginary condition.
Differentiating PID from appendicitis is among the most difficult problems in an urgent care unit. medicine.
More times than not, porphyria patients have had to undergo a laparoscopy in order to rule out various medical conditions.
For women of childbearing age even with a given confirmed diagnosis, a beta [bHCG] screening test for pregnancy should be administered.
Ultrasonography can often help rule out appendicitis, ovarian cysts, and ectopic pregnancy.

Robert Johnson MD
Internal Medicine

Polyvinyl Chloride, Phthalates & Vinyl Chloride

What is Polyvinyl Chloride or Phthalate?
Polyvinyl Chloride (PVC, or Vinyl) aka Phthalates are one of the most commonly used materials in the consumer marketplace.
Polyvinyl Chloride is found in packaging, construction and automotive material, all categories of products, including toys, and medical equipment.
PVC contains Phthalates, which accumulate in body tissues, and can damage liver, lungs, and have been shown in lower mammals to damage reproductive organs.
Some porphyria specialists have identified PVC's as a possible trigger of the acute porphyrias.
Phthalates are freely given off by plastics in which it occurs, and because it is fat soluble, is found in quantity in meats and cheeses wrapped in PVC packaging.
Although Phthalates show almost no toxicity in adult humans in acute (short term) doses, even at high doses, it is the cumulative nature of phthalate toxicity which results in toxic effects even at very low dosage when ingested chronically (over a long period of time).
Very young infants do not metabolize Phthalates as well as adults, and so are at greater risk of harm.
The common availability of Phthalates in the consumer environment causes inevitable chronic ingestion for almost all modern industrial consumers.

However there is another side to PVC's.
When lives are on the line, healthcare providers around the country trust vinyl medical products.
For more than 40 years, vinyl medical products have played a crucial role in hospitals, clinics and other health care settings.
From blood and IV bags to dialysis tubing, catheters and inhalation masks, vinyl's unique characteristics meet the health care industry's tough performance standards while also being durable, easily sterilized and non-breakable.
Indeed, no other material on the market performs as well or as cost effectively as vinyl.

VINYL CHLORIDE There is sufficient evidence for the carcinogenicity of vinyl chloride. >1979; IARC S.4.
When administered by inhalation, vinyl chloride induced pulmonary adenomas and adenocarcinomas, mammary adenocarcinomas, liver angiosarcomas, and angiosarcomas and adenocarcinomas.
Inhalation of vinyl chloride induced Zymbal gland carcinomas, nephroblastomas, and liver angiosarcomas in rats of both sexes and mammary tumors and heptacellular carcinomas in female rats.
Also when administered by inhalation, vinyl chloride induced skin tumors in male hamsters.
An investigative reports shows that there is sufficient evidence for the carcinogenicity of vinyl chloride in humans.
Vinyl chloride has been associated with tumors of the liver, brain, lung, and hematolymphopoietic system.
A large number of epidemiological studies and case reports have substantiated the causal association between vinyl chloride and angiosarcoma of the liver.
Several studies also confirm that exposure to vinyl chloride causes hepatocellular carcinoma, brain tumors, lung tumors, and malignancies of the lymphatic and hematopoietic system.
Vinyl chloride is a colorless, flammable gas with a faintly sweet odor.
The gas polymerizes in light and liquifies in a freezing mixture.
It is slightly soluble in water, soluble in ethanol, and very soluble in ether, carbon tetrachloride, and benzene.
In the form of vapor, vinyl chloride is a dangerous fire and severe explosion hazard when exposed to heat, flame, or oxidizers.
On standing, it forms peroxides in air and can then explode.
Vinyl chloride is industrially important because of the inherent flame retardant properties of its polymer, its wide variety of end use products, and the low cost of producing polymers from it.
Vinyl chloride monomer is the parent compound of polyvinyl chloride (PVC), a plastic resin used in innumerable consumer and industrial products, including containers, wrapping film, battery cell separators, electrical insulation, water distribution systems (water and drain pipes, hose), flooring, windows, phonograph records, videodiscs, irrigation systems, and credit cards.
Vinyl chloride-vinyl acetate copolymers are used extensively to produce vinyl-asbestos floor tiles.
The primary routes of potential human exposure to vinyl chloride are inhalation and dermal contact.
Potential human exposure to vinyl chloride occurs in the workplace, through general air and water pollution, and to a limited extent, from the use of fabricated products.
Never use such products for cooking food in a microwave.
Some porphyria sopecialists have identified Vinyl chloride-vinyl acetate copolymers as a possible trigger of the acute porphyrias.

HEXACHLOROBENZENE

Hexachlorobenzene is a white crystalline solid.
Hexachlorobenzene compound does not occur naturally.
Hexachlorobenzene was widely used as a pesticide until 1965. It was also used to make fireworks, ammunition, and synthetic rubber.
It is formed as a by-product during the manufacture of chemicals use for making solvents, other chlorine-containing compounds, and pesticides.
Small amounts of hexachlorobenzene can also be produced during combustion processes such as burning of city wastes.
It may also be produced as a by-product in waste streams of chlor-alkali and wood preserving plants.
There are no current commercial uses of the substance.
Hexachlorobenzene tends to remain as a solid in the environment for a long time.
Most of it will be in the form of particles clinging to the bottom and sides of lakes or streams, since it does not dissolve in water very well.
The evaporation of this substance into the air is not significant under ordinary conditions.
Some porphyria sopecialists have identified Hexachlorobenzene as a possible trigger of the acute porphyrias.

Roger Dickinson PhD
Toxicology

Self Care in Porphyric Neuropathy There are many things that the porphyria patient can do to help alleviate the problems associated with PN.
Quit smoking. If you smoke, talk to your doctor about ways to quit.
It is well known that smoking can and does trigger episodes of porphyria. The element of formaldehyde is long been known to induce heme manufacturer.
Smoking can make PN symptoms worse as well as trigger acute episodes of porphyria.
Good nutrition is a must in minimizing the affects of PN.
Eat healthy meals.
Healthy eating is especially important in the porphyrias for both avoiding PN and for trigger acute episodes.
PN patients must limit caffeine.
Porphyria patients need to try to avoid foods or drinks high in caffeine, including coffee, chocolate and sodas.
Caffeine can make pain worse.
Avoid alcohol completely. Even if your neuropathy isn’t caused by alcohol use, as few as four drinks a week can make any neuropathy worse.
Alcohol is also known to trigger some porphyrias.
Minimize the fat in nutritional intake.
Emphasize low-fat meats and dairy products and include lots of fruits, vegetables and whole grains in your diet.
Regular exercise is most important. Exercise on a regular basis can be very beneficial for both the PN as well as the porphyria itself.
Regular exercise may reduce neuropathy pain and can help control blood sugar levels in those with co-existing diabetes.
Massaging of the hands and feet is important.
Massage helps improve circulation, stimulates nerves and may temporarily relieve pain.
It is good to soak the feet or hands in cold water.
If a porphyria patient with PN has burning pain, cool your feet or hands in cold, but not icy, water for 15 minutes twice a day.
This soaking technique is particularly useful at night. After soaking, rub on petroleum jelly to soften your skin.
Most porphyria patients with PN have neuropathy symptoms in the feet.
It is important to take care of the feet, especially if you have diabetes.
Tight shoes and socks can worsen pain and tingling, and may lead to sores that won’t heal.
PN patients should wear soft, loose cotton socks and padded shoes.
It is especially important to stress self care for PN in porphyria patients.
PN does not have to become permanent in porphyria patients anymore than the porphyria it's self needs to become permanent. Through self care the patients can alleviate the signs and symptoms of both over a period of time.
Self care gives the patient self control over their medical conditions.

Suzanne Witherspoon MNS, RN
Patient Educator
Neurology

LATEX ALLERGY

The overall incidence of latex allergy is unknown, but the prevalence in the general nonatopic population is estimated to be less than 1 percent which was cited in recent study in Michigan.
In this study which was conducted in the city of Detroit, 1000 blood donors were tested for immunoglobulin E (IgE) specificity for latex.
The outcome of the study cited a 6.4 percent positive response, which seems to be a much higher prevalence in the general population than had been indicated earlier. Latex allergy has had quite a history. Beginning in the fall of 1989, the Food and Drug Administration (FDA) started receiving medical reports of patients going into anaphylactic shock while receiving barium enemas.
It was soon found that the latex-cuffed enema tip was the cause of a total of 16 deaths.
Increased awareness of latex allergy followed this episode.
Another gorup of patients at risk are spina bifida patients.
These patients are frequently exposed to latex from urethral catheterizations, multiple surgeries, and ventriculoperitoneal shunt placement early in life. The prevalence of latex allergy in porphyria patients ranges much higher.
Porphyria patients with cutaneous symptomology or those with MCS exacerbation need to be especially aware of the problems with latex.
The numbers of latex allergy patients among health care workers is estimated between 5 to 10 percent.
Workers in the latex-manufacturing industry are also at risk, with one glove-manufacturing plant reporting a 3.7 percent prevalence of occupational asthma based on positive skin-prick testing and spirometric data.
Workers at a latex doll-manufacturing plant were also found to be sensitized to latex sensitization.
Other persons are at risk, especially the police an emergency medical personnel, food handlers who work in cafeterias and fast-food restaurants, and sanitation engineers in various fields, all of whom can wear latex gloves for prolonged periods.
Patients with atropy have higher risk for latex allergy.

The reasons for latex allergy has to do with the processing and source of latex.
Latex is the milky sap obtained by tapping the rubber tree.
It is derived from the cells of the lactiferous system found in the rubber tree.
The raw product is mixed with a preservative, such as ammonia.
It is processed and it concentrated.
Then the latex is shipped as a latex concentrate.
Numerous chemical accelerators reduce the temperature and time required. These accelerators can cause allergic reactions and are responsible for many cases of contact dermatitis.
Chemically, latex contains proteins, cis-polyisoprene, water, and lipids.
The proteins cause the severe immediate hypersensitivity reactions.
More than 50 different proteins have been implicated in the allergic response, with up to a total of 240 different proteins found in latex.
Latex products are made either by pouring the rubber into molds or by forming a coating in a dipped process, as is done with gloves, balloons, and condoms.
Coated or very soft rubber products appear to have the highest content of latex proteins and, therefore, have the greatest allergenic potential.
Systemic reactions to latex can result from exposure to latex protein by various routes, including the skin, mucous membranes, inhalation, and intravascular or internal tissue.
Medical devices that have been reported to trigger serious systemic reactions by cutaneous exposure include anesthetic masks, tourniquets, electrocardiogram electrodes, adhesive tapes, condom catheters, and ileostomy bags.
Most severe reactions to latex have resulted from latex proteins contacting mucous membranes of the mouth, vagina, urethra, or rectum. Materials used in dentistry, including gloves, mouth bite plates, and orthodontic elastics, are potential allergic sources.
If you are aware of itching or other allergic reaction to latex please notify for medical care provider.
Please note this reaction in your medical records and carry this information in your wallet.
Such reactions are as important to cite as those of an allergic reaction to penicillin.

Russell Longtin PhD
Toxicology

ALA-D Porphyria

Delta-Aminolevulinic Acid Dehydratas Deficiency is the full name for ALA-D Porphyria. ALA-D porphyria is an autosomal recessive disorder.

The ALA-D is now the rarest porphyria.

ALA-D results from a deficiency of ALA dehydratase in the heme pathway. There are several different mutations in the gene for ALA dehydratase that have been charted in non-related patients.

The ALA-D disease was first described in Germany .
However the disease probably occurs in all countries.
The ALA-D I causes neurologic symptoms and sometimes anemia.
ALA-D's symptomology resembles those of the acute porphyrias but can also include hemolysis and anemia.
Symptoms of ALA-D may begin in infancy or adulthood.
In ALA-D the urinary ALA and coproporphyrin III and erythrocyte zinc protoporphyrin are markedly increased.
In ALA-D and other disorders in which ALA accumulates, excess ALA may be metabolized to coproporphyrin III in tissues other than the tissue of origin of the excess ALA.
In ALA-D the fecal porphyrin excretion is normal or marginally elevated.
Patients with ALA-dehydratase-deficient porphyria demonstrate little activity of ALA dehydratase in erythrocytes or in nonerythroid cells. Parents of an ALA-D porphyric show about 50% enzyme activity.
The diagnosis of ALA-D is made by finding an excess of ALA and coproporphyrin in urine and a deficiency of ALA dehydratase in erythrocytes.

One thing that is important to remember is that other causes of this enzyme deficiency, such as lead poisoning and tyrosinemia, must be excluded.
These conditions can also manifest with symptoms such as
abdominal pain, ileus, and motor neuropathy that are strikingly similar to those of the acute porphyrias.

Melissa Lunderman NP
Hematology

Genetic Aspects of Porphyria

Did you know as a porphyric that your genes could be held against you?
Scientists are now able to predict, with increasing regularity, the genetic abnormalities that may affect a person's health.

This breakthrough includes the determining of porphyria.
Shockingly, this information which may help doctors treat and cure diseases or at least give porphyric proper Intervention or Preventative therapies, is being used by insurance companies to deny patients access to insurance coverage and needed health care such as the simple use of intravenous glucose.
Even though you have no control over your genetic makeup and you may never even develop a disease, some health insurance companies may deny coverage just because you were born with a particular gene.

In addition it has been found that some medical insurers are disclosing this information and using it against a person's relatives.
For example, genetic information used to identify a person's remains may be disclosed to another source and then used to deny insurance for that person's relatives -- without their knowledge or consent.
This is discrimination.
This type of discrimination and improper disclosure threatens the continuation of genetic research by the scientific and medical communities, and ultimately could result in lost cures and treatments.

There needs to be a balance of the privacy of genetic information along with the needs of medical researchers.
As porphyrics we must concerned with this type of genetic discrimination.
We, as porphyrics, must ask legislators to introduce policies that would prohibit health insurers from denying, canceling, refusing to renew health coverage or varying the terms, premiums or conditions of coverage on the basis of genetic information.
As with all things dealings with the disease porphyria, the patient must take control and educate medical professionals and the general public about the disease.

As porphyrics, we must also guard our genetic heritage from discrimination.

Louella Perkins MNS, RN
Patient Educator