August 2004 PES Bulletin

The Value of DNA Family Mapping

The majority of porphyria patients are carriers of an inherited form of porphyria.
Because we inherit genes from our parents, our DNA is a window into the past, and all ready medical researchers and scientists have created means of tracing the great human migrations of history by looking at the genes

An example is that of an AIP patient who participated in a DNA family mapping project and at the same time had a concise family genealogical history going back for several hundred years. Not only did the mapping prove blood relationship of the members but could be use to trace back to their European heritage and to the precise location where "pigtale" relatives still live today and carry the same genetic marking of porphyria.

As gene research continues the development of gene information and identification, it will disclose more about the history of the human species. Studies of migration of different population groups will be enhanced by the use of gene studies.This will allow for the studies of mutations on the Y chromosome. This will facilitate researchers to trace lineage and migration of males.

In time genetic research will allow for the correlation of genetic variations with the ages of populations and historical events.

Linda Stewart PhD
Genetics & Biochemistry

PCT Diagnosis and Treatment

One of the most straightforward diagnoses in porphyria is that of porphyria cutaneous tarda (PCT).
PCT diagnosis is usually fairly straightforward because of the characteristic clinical findings in such a diagnosis.
In PCT there are blisters and erosions which develop acutely on sun-exposed skin. Such skin manifestations are sometimes accompanied by hypertrichosis.
ALso in PCT there are abnormal pigmentation, and milia formation.
In lab studies dealing with PCT, the iron stores are usually elevated. In the liver function panel tests the liver transaminases are usually elevated.
In other laboratory studies it has been found that blood glucose levels are often above normal as well.
Gross examination of the urine can provide a valuable clue, since urine of porphyria cutanea tarda patients is red to brown in natural light and pink to red in fluorescent light.
Biopsy of a bullous lesion is useful to rule out other diseases.
Confirmation of porphyria cutanea tarda requires measurement of porphyrin levels in a 24-hour urine collection which is run in a knowledgeable lab.
After a diagnosis of PCT is confirmed, it appears reasonable to screen all patients with porphyria cutanea tarda for hepatitis C and moreover for Hepatitus B. All PCT patients with an elevated liver transaminase level should be screened.
For the most part the therapeutic measures for porphyria cutanea tarda include avoidance of exacerbating factors. Such factors include direct exposure to sunlight, ultraviolet light, ethanol, and certain medications.

The use of phlebotomy or chloroquine therapy is a secondary protocol for patients in whom conservative measures fail.

Girard Weber PhD
Hematology

Peripheral Neuropathy in Porphyria

PN or neuropathy is commonly a general term for disorders of the peripheral nervous system.
In the porphyrias, sooner or later, neuropathies will be experienced. The central nervous system (CNS) is greatly affected by the onset of acute porphyrias.
Neuropathies can be simple or complex.
Neuropathies may affect just one nerve which is medically known as mononeuropathy. On the other hand neuropathies may effect several nerves and be termed a polyneuropathy.
Neuropathy can be located just about any place where nerves are located in the human body. In porphyria, motor neuropathy is most common.
PN presents in different places and different ways depending on the nerves involved.
PN symptoms can range from a mild tingling or numbness in the fingers or toes to searing hand or foot pain. There can be loss of feeling in the feet or hands.
A porphyria patient can unfortunately experience weakness or even paralysis of certain muscles, such as bulbar paralysis or respiratory paralysis requiring the use of a vent.
Other PN can lead to quadrapelgia.
Other unpleasant forms of PN include bowel immobility and loss of bladder control.
PN symptoms in porphyria result from damage to the nerves that provide communication between your brain and your muscles, skin, internal organs and blood vessels.
Often in PCT in addition to the porphyria there is neuropathy due to alcoholism which can damage peripheral nerves.
In porphyria, treating the underlying condition of the porphyria itself, with carbohydrate loading, can relieve some cases of peripheral neuropathy.
Also gabapentin (neurontin) has proven effective in not only controlling seizure activity associated with porphyria, but also in controlling neuropathic pain.
Forunately, the peripheral nerves have the ability to regenerate themselves. Chances of recovery is very good for many porphyria patients if the porphyria is kept under control and PN is allowed to resolve.

Ralph Middlesmith FPA
Neurology & Physiatry

Side Effects of Narcotic Use in Pain Control

Pain control in porphyria is vital.
Using a variety of pain treatments has often been prescribe for porphyria patients in dealing with both the abdominal pain which presents during acute attacks and then the neuropathic pain which often becomes chronic and lasts into times of disease remission.
Opioids have long been used in the treatment of pain in porphyria patients. While opioids provide needed relief of pain, they at the same time can bring with them not so pleasant side effects.
Side effects of opioids include mild dizziness, drowsiness, sedation and unclear thinking. Because of these side effects porphyria patients need caretakers assistance when commuting. The side effects of opioids can make it unsafe for you to drive or operate machinery.
Other side effects of opioids can be easily managed by taking a few simple precautions.
With dizziness a person can best alleviate the symptoms if you lay down for a period of time. After lying down, one should remember to get up slowly from a sitting or lying position.
Dizziness or a simple uneasiness is one thing. If however, you experience severe dizziness or drowsiness, get emergency care.
Others side effects that need to be noted and reviewed by a physician include if you feel extreme nervousness, severe weakness, can not breath, cold, clammy skin.
As with many other prescription drugs, there may be a tendency to feel some nausea, and constipation may occur.

Robin Lamberton RPH
Pharmacology

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.

MAXZIDE is a brand name for the generic drug TRIAMITERENE & HYDROCHLOROTHIAZIDE. This antihypertensive drug carries a warning for persons who can not tolerate sulfa, and also for persons with liver disease. Sulfa containing drugs are contraindicated for porphyria patients.
ZAPEX is the brand name for the generic drug OXAZEPAM. This drug is classified as a tranquilizer, anti-convulsant and is a benzodiazepine. It is sued for the treament of muscle spasms, anxiety disorders, seizure disorders, alcohol withdrawal and insomnia. Zapex is has photosensitivity. This drug carries a WARNING: ***Do not use if your have Porphyria or liver disease.
NEMBUTAL is the brand name for the generic drug PENTOBARBITAL which is a barbituarate, sedative-hypnotic, and an anti-convulsant. It carries a WARNING: ****Do not use if you have Porphyria.
is the brand name for the generic drug BUTALBITAL. This drug is classified as a sedative-hypnotic agent and anticonvulsant.The drug carries a WARNING if you have liver disease or have porphyria.