May 2006 PES Bulletin

Potassium a Vital Electrolyte in Porphyia

Potassium is a mineral. Chemically it is known as "K".
Potassium is involved in both electrical and cellular functions in the body.
Potassium is one of the electrolytes.
Electrolytes for acute porphyria patients are vital. Lab tests need to be routinely run during porphyric episodes because of electrolyte imbalances which commonly occur due to the nausea, vomiting or sometimes accompanying diarrhea.
Loss of potassium along with sodium can bring about mental changes and sodium abnormalities can result in seizure activity.
Potassium plays various roles in metabolism and body functions.
A key role of Potassium is to assist in the regulation of the acid-base balance and water balance in the blood and the body tissues.
Potassium assists in protein synthesis from amino acids and in carbohydrate metabolism. Carbohydrate metabolism is essential for acute porphyrics.
Porphyria patients must be able to metabolize carbohydrates as it is the ingestion of carbohydrates which stops the over production of porphyrins in the liver which causes the presentatrion of acute porphyrias.
Potassium is also very necessary for the building of muscle and for normal body growth.
Potassium is also needed for the proper functioning of nerve cells, in the brain and throughout the body.
A deficiency of potassium is known as hypokalemia. Too low of potassium can cause hypertension, CHF, cardia aahythmia, depression, and fatigue. Muscle weakness and dry skin can also occur.
A variety of conditions can cause the loss of potassium from the body. The most common of these conditions are vomiting, diarrhea, and other gastrointestinal problems.
The use of diuretics or laxatives can also cause low potassium levels.
At the onset of porphyria attacls it is essential to have electrolytes checked through a simple blood tests. Any imbalances can be quickly and simply corrected through supplementation.

Lori Jellison MNS, RD
Nutritional Studies

Mental Changes in Acute Porphyria

The three main types of porphyria that give rise to neuropsychiatric disorders include the acute intermittent porphyria [AIP], variegate porphyria [VP] and the heriditary coproporphyria [HEP]. In a medical publication entitled "The Little Imitator" written by H.L. Crimlisk, of the Department of Neuropsychiatry at the Institute of Neurology in London, England, the author states that neurological or psychiatric symptoms occur in most acute attacks.

Neuropsychological symptomologies can be treated early on, by porphyric patients learning to be "in tune" with their mind and bodily functions. The early use of propranolol, adequate rest, control of seizures, nausea and vomiting and lab tests checking electrolyte balance, all can correct if not inhibit the neuropsychological problems of earlier etiology of acute attacks.
Porphyria patients can and do experience bizarre psychological behavior which in the past would often mean a wrong diagnosis.
Decades ago acute porphyrics would often would be hospitalized in neuropsychological wards due to the behavior rather than the treatment of the porphyria.
With a confirmed diagnosis today a porphyria patient can undergo PREVENTATIVE treatments which most usually can be administered at home and alleviate the necessity of triggering attacks which require costly hospitalization for observation and INTERVENTION treatments of either glucose or heme.
Such preventative treatment when shown to be cost effective, are usually handled under "case management" of most major medical insurers.
While the physical medical treatment and care is much better for the porphyric patient, so too is the neuropsychological. Avoiding acute attacks means avoiding the chances of neuropsyhcological impairments and exercerbations.
With today's recognition of the acute porphyrias, patients fortunately are rarely wrongly institutionalized due to the neuropsychological aspects of their disease. In the past this accounted for the early day large porphyria populations in mental institutions.
Today however with the advances in molecular biology which permit the identification of porphyria patients early on, in both acute and latent carriers alike within a family, acute attacks can be avoided for the most part.
This means that the neuropsychological elements of the acute porphyrias can be addressed as well and for the most part treated in advance, with little or no permanency.

Betsy Perkins, MNS
Director of Case Management
Inherited & Metabolic Disease Division

Using Safe Inhalation Agents The use of safe Inhalation Agents by acute porphyria patients can be quite tricky, and must be reviewed by both the patient, the attending physician and the anestheologist.
Inhalation agents which are known to be safe for acute porphyrics include nitrous oxide, cyclopropane and diethyl ether.
Those inhalation agents which are "flagged" as contentious include Halothane and Isoflurance.
The use of Enflurance has been found to be most unsafe.

Merrilyn Elder MNS NP
Patient Educator

Physiology & Anatomy of Peripheral Neuropathy

What does peripheral neuropathy [PN] affect?
It affects the peripheral nerves of the Central Nervous System.

The peripheral nerves include the cranial nerves (with the exception of the second), the spinal nerve roots, the dorsal root ganglia, the peripheral nerve trunks and their terminal branches, and the peripheral autonomic nervous system.
The way they are classified, the motor neurons and their diseases are considered separately.
Nerves are composed of different types of axons. Large, myelinated axons include motor axons and the sensory axons responsible for vibration sense, proprioception and light touch.
Small myelinated axons are composed of autonomic fibers and sensory axons and are responsible for light touch, pain and temperature.
Small, unmyelinated axons are also sensory and subserve pain and temperature.
Neuropathies involving primarily the latter two fiber types are called small-fiber neuropathies.
In porphyric PN the nerves are acutely inflamed.
Damage to sensory nerve fibers may cause numbness and tingling. There may also be sensations of cold,or pain. Such feelings often start in the hands and feet and spread toward the body center. Damage to motor fibers may cause muscle weakness and muscle wasting.
The peripheral nerves connect the central nervous system to the sense organs, muscles, glands, and internal organs.
Research studies have found that persons disabled from chemical exposures have a higher toxic accumulation in a person's body fat, and red blood cells, the more likely such a PN patient will have with the aggression of their PN.
All patients with PN would carry an inherited autosomal dominant gene seem the most likely candidates for this aggreesive PN exacerbation.

Molly Underling MSN, NP
Neurology & Physical Medicine

Seizure Treatment in Acute Porphyrias

Patients needing chronic therapy for excerbation of seizure activity often experience acute porphyric attacks due to increased hepatic metabolism induced by the antiepileptic drugs themselves.
For the last ten years the brand name Neurontin has been key in the treatment of acute porphyria patients since so many of the available anti-seizure medications are contraindcated for use in acute porphyria patients.
Gabapentin which is also known as Neurontin, is an antiepileptic drug Neurontin. Neurontine is not appreciably metabolized by the liver in humans.
For the most part it has been found that use of Neurontin in treating seizure activity in acute hepatic porphyria patients appears to be safe.
Neurontin has also been found to be effective in the maintenance therapy of epilepsy in porphyria patients giving hope to porphyrics which previously was without many safe options.
Treatment of seizures in acute intermittent porphyria represents a therapeutic dilemma for medical care providers.
Porphyria patients needing chronic therapy often experience more acute porphyric attacks due to increased hepatic metabolism induced by the antiepileptic drugs themselves.
Gabapentin [generic name] is a new antiepileptic drug. The brancd name for Gabapentin is Neurontin.
Neurontin is not appreciably metabolized by the liver in humans.
It should be noted that patients when prescribed Neurontin, should not be using a regiment of Magnesium. Use of magnesium tends to neutralize the seizure medication.
Neurontin does serve as a pain medication. Pain relief by those who use Neurontin comes from the fact that the medication stops the inflamatory of nerve endings which in turn cause pain.

Liz Ferrers NP
Neurology