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Porphyria Educational Services
Monthly Newsletter
January 2003

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 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 abdominal discomfort.

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 surgeries.

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 treat infections.

This combination is commonly prescribed in the treatment of UTI's (urinary tract infections), which also are heavily experienced by acute porphyria patients.

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 pneumonia.

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 porphyria patients.

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.
Retired Clinician

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 visible manifestation.

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 impairment.