Porphyria Educational Services
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
Specific recommendations for the confirmed diagnosis and treatment of any individual
must be accomplished by that individual and their personal physician, acting together
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.
Why Porphyrias are Thought to be Complex
If porphyria patients think it is hard to get an accurate diagnosis of porphyria,
they are most likely correct in their thinking. Most physicians who are familiar
even the slightest with the porphyrias consider the porphyrias to be "complex."
The complexity of the porphyrias begins right at the beginning with their
The porphyrias may be inherited as either autosomal dominant or autosomal recessive traits depending on which type of porphyria is involved. It is not just one to
Another complexity is that some types of porphyria have their onset in early childhood, some at puberty, and others during adulthood, but often there are vast exceptions to these standards.
In the acute hepatic porphyrias a tpical attack of acute porphyria generally
begins with colicky abdominal severe pain with nausea followed by vomiting and constipation . But then again too a small percentage of acute porphyrics present
Mental and personality changes may develop during an acute attack which may lead
many well meaning physician to conclude that perhaps the medical condition is psychological in nature and that the patient may be imagining much of their
Another aspect of the acute attack is that of peripheral paresthesia. Patients
will often complain of numbness and tingling, weakness , paralysis , sensory
changes and muscle pain .
Acute attacks can be life threatening, producing severe electrolyte imbalances,
low blood pressure and shock, bulbar paralysis and respiratory paralysis and in
some cases respiratory failure.
Urine may become red following an attack in the acute porphyrias (AIP, VP, & HCP)
In congenital erythropoietic porphyria, (CEP) the urine is constantly red.
Light exposure to sunlight or UV lighting can cause reddening, pain, sensations of
heat, blistering and edema in the skin. These lesions heal slowly, often with
scarring or pigment changes and can be disfiguring. Such cutaneous manifestations
often resemble those of other medical conditions and continue to add to the
complexity of the disease.
In the porphyrias there is not one set of symptoms, but a host of varied symptoms
which can and do cross over from one type to another. Some symptoms only present in one specific type. Confusing? Yes.
A few of the symptoms which all can easily be mistaken for other perhaps more common medical conditions include various urine colorations upon exposure to ligt and air, abnormal teeth colors, photosensitivity, blistering, skin swelling, abdominal distention, photodermatitis severe abdominal pain mimicing appendicitis,
constipation , nausea, vomiting, muscle pain, muscle weakness, bulbar paralysis, repsiratory paralysis, peripheral neuropathy, pain in the limbs and in the back,
mental change including hallucinations, disorientation, depression, and paranoia.
Physicians will often detect tachycardia and a loss of deep tendon reflexes .
Blood pressure may severely elevate and then fall. Often there will be abnormal
liver function test results.
Another complexity comes when physicians need to decide on treatment, With different porphyrias there are different treatments, therefore an accurate diagnosis needs to be made because a treatment for one specific porphyria will not be beneficial for the treatment of another type. The only exception here is that of the acute porphyrias which are all treated in the same manner.
The porphyrias are life-long intermittent illnesses, but with good long-term
management, the affected person can expect long problem-free periods. All triggers
need to be avoided.
Jocelyn Noble MSN, RN
The Role of Magnesium in Porphyria
Magnesium is an essential mineral for human nutrition.
In metabolic functions magnesium is most important.
Magnesium plays a role in the production and transport of energy within the human
Magnesium is important for the contraction and relaxation of muscles.
Magnesium helps to enable the functioning of various enzymes.
Magnesium is involved in the synthesis of protein.
Most dietary magnesium comes from vegetables. Also good sources of magnesium are
fruits, whole grains and soy products.
However, it is important to remember that porphyria patients are to avoid the ingestion of soy products.
While grains are especially good for porphyria patients to consume as they are
rich in carbohydrate and provide fiber intake as well as provide magnesium.
Increased magnesium intake does not pose a problem of toxic symptoms because the
body eliminates excess amounts. Magnesium excess almost always occurs only when magnesium is supplemented as a medication.
Contrastly, magnesium deficiency is rare, except there is malabsorption or loss of minerals through excessive vomiting and diarrhea associated with acute porphyria
However, when there is a magnesium deficiency, there may be
irritability, muscle weakness, muscle spasms, confusion, "brain fog", fatigue,
anxiety and/or excitability, and insomnia or restlessness.
If magnesium deficiency is severe, there can be delirium, numbness and tingling, muscle cramping, and hallucinations.
Medical research has shown that various medications or low blood levels of calcium
may be associated with magnesium deficiency.
Jocelyn Williamson MSN, RD
Mental Changes in Porphyric Attacks
Chemical imbalances are most often found to contribute to many mental changes.
In the acute porphyrias changes in the central nervous system often present with
mental changes in porphyria patients during the onset of an acute attack.
Among a few patients, such mental changes can continue into
the period of remission of porphyria excerbation.
With treatment, many people can recover, while those with more chronic mental
disorders can learn to manage their symptoms.
Such managment of symptoms is not unlike how a porphyria patient often needs to
learn to live with peripheral neuropathy or diabetes.
Mental changes may also be triggered by environmental
stresses, particularly in people who are at risk due to family or genetic factors
such as porphyria.
Porphyria patients who experience depression during attacks, also can have decreased "cognitive function", for example, difficulty in concentrating.
Disturbances of "cognitive function" refer to decreased ability to organize,
process or recall information. Many porphyria patients have received
social security disability based upon cognitive function itself rather than the
broader generalized "disorders of porphyrin metabolism."
Dementia is deterioration of cognitive ability.
Psychosis is characterized by disturbed perception and thinking, such as
hallucinations and delusions. Hallucinations are often found during acute attacks
when unsafe drugs have been used.
Hallucinations are sensory impressions that have no basis in reality, such as
hearing voices that no one else hears or seeing objects or phenomena that no one
else sees. This experience is often quite frightening to porphyria patients when
they first experience it happening.
Delusions are false beliefs that a person holds despite evidence to the contrary. Delusions in porphyria patients are most generally short-lived, if experienced at
Psychotic symptoms are associated with schizophrenia, but they also can occur in severe mood disorders or substance abuse.
Generally these psychological entitites are not associated with
most porphyria patients.
Dr. Kenneth Carlson
What Causes Tingling & Numbness in PN?
Acute porphyria is often accompany by peripheral neuropathy. PN, as it is often
known as, causes episodes of numbness, tingling and/or weakness.
Nerve damage occurs causing the tingling, weakness and
pain that signifies PN.
In PN, the nerves demyelinate or lose their protective covering.
Demyelination is what causes the episodes of numbness and weakness. In time the
nerves will most likely recover abd the nerves will remyelinate.
These episodes of numbness and weakness can be as brief as a few minutes, or can
last several days or even several months. In some cases porphyric PN can lead to
quadrapelgia. Short term paresis is not uncommon.
Numbness associated with PN may be as mild. The porphyria patient will notice
that an area or limb does not have quite the same feeling as surrounding areas or
the other side. On the otherhand, numbness may be so severe it feels like the limb
has been put to sleep, or is not present.
Weakness also can vary between slight and and very
severe.Sometimes a porphyria patient finds themselves unable to move a particular muscle group or an entire limb.
The numbness and weakness may gradually go away or it may remain severe for quite some time and then rapidly get better.
In some cases, the numbness and weakness may only partially improve, meaning that there is permanent nerve damage.
The amount of time the nerve is compressed seems to play a role in the severity of symptoms.
PN symptoms can come and go. PN often will wax and wane along with the acute
episodes of porphyria.
The best prevention of porphyric PN is the avoidance of acute attacks.
Dr. Maurice Simons
Neurology & ReHabilatation Medicine
Caretakers and Seizure Activity
Often the porphyria patients are not even aware of the seizures taking place
and a few basics, good, all simple, "rules of thumb" to follow in caring for a person when having a seizure.
The foremost thing is to protect the safety of the patient until the seizure stops naturally all by itself.
1- Stay calm. Porphyria patients all ready experience plenty of anxiety.
2. If not familiar with other medical conditions of the porphyria patients look
for the medical identification on the patient. It is important to note that
sometimes seizures are because of other conditions and you may need to notify
medical personnel in these cases.
3. Protect the patient from all nearby hazards. Look for corners on tables, picture frames, sharp corners of stands and bookshelves. Remove their eyeglasses if they are wearing them.
If in a kitchen remove electrical wiring, or small electrical kitchen appliances which can be bumped and broken, or produce electrical shock. If the patient is in a bedroom or living room remove deep down pillows where a person could smother, vases, window glass, and all breakable objects etc.
Be sure that the patient is barred from falling down stairways, steps, and kept away from heating elements.
4. Loosen ties or shirt collar or blouse collar.
5. Place a folded jacket under the head.
6. DO NOT RESTRAIN the person.
7. DON'T PUT ANYTHING into the mouth.
8. DON'T HOLD THE TONGUE. *Please note that the tongue can not be swallowed.
9. Don't try to give the patient any liquids or food during or just after a seizure.
10.Turn the patient on their side to keep the airway clear.
11. Reassure the patient when consciousness returns.
12. DO not use artificial respiration unless breathing is absent or unless the patient has inhaled water.
13. If the seizure is prolonged or another starts immediately afterward, then notify medical help.
Because many physicians are unfamiliar with porphyria and most porphyria patients chart all of their symptomology please note the duration of the seizure activity and location of tremors.
Allow the porphyria patient to awaken gradually after the seizure activity and then allow the patient to elaborate on what they remember for charting purposes.
As within the general population, some porphyria patients have been victims of abuse. It is very important to not compound seizure activity by touching the porphyria patient before they are fully awake and able to converse.
Diana Deats-O'Reilly MEd, MA BA
CEO, Porphyria Educational Services
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.
METAGLIP is a brand name for the generic drug GLIPIZIDE. It is a sulfonylurea.
SIDE EFFECTS: Hypoglycemia, Gastrointestinal disturbances are most common reactions.Porphyria cutanea tarda and photosensitivity reactions have been reported with sulfonylureas.
Skin eruptions rarely progressing to erythrmea multiforme and exfoliative dermatitis have also been reported.
Metabolic REACTIONS - Hepatic porphyria and reactions have been reported with chlorpropamide.WARNING: This drug is UNSAFE for porphyria patients.
DANASONE is a brand name for the generic drug
SIDE EFFECTS include Fluid and Electrolyte Disturbances: Sodium retention; Fluid retention; Potassium loss; Hypertension Muscle weakness; Loss of muscle mass; Abdominal distention; Thin fragile skin; cutaneous reactions, Convulsions; Increased intracranial pressure, Decreased carbohydrate tolerance; Manifestations of latent diabetes mellitus; and Hirsutism.
WARNINGS & PRECAUTIONS: There is an enhanced effect of corticosteroids in patients with hypothyroidism and in those with cirrhosis and liver disease. It is not recommended for use in
patients with liver disease.