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.
Potassium Vital to Acute Patients
Most diets provide all the potassium you need under normal circumstances...that
is for normally healthy individuals.
Potassium is a very necessary element needed by the human body in order for the
body to function properly.
Chiefly you need to have potassium for normal heart and other muscle function. Potassium also helps to maintain water balance between your cells and body fluids.
In normally healthy persons potassium deficiency is usally due to the individual having heart problems and having to take a diuretic to eliminate excess body fluids,
mostly sodium and water.
Potassium can also help counteract the effects of sodium if you have high blood
Most people taking diuretic medications also are reminded to eat more foods high in potassium.
In acute porphyria patients who suffer attack after attack, most will experience
an electrolyte imbalance and potassium will commonly fall below the bottom of the
normal range level.
When this imblance is revealed through simple blood serum tests, a physician most
generally will advise eating more potassium containing foods and prescribe a potassium supplement.
In porphyria when elctrolyte imbalances take place, such imbalances will often lead to a host of mental changes in the patient. It is therefore necessary at the onset of attacks to have an electrolyte panel run and then if vomiting persists throughout the
attack to again have the electrolytes tested.
Foods containing potassium which are considered safe for acute porphyria patients include oranges, grapefruit, cantaloupe, bananas, honeydew melons, and potatoes. Unfortunately
other high potassium containing foods such as prune juice, molasses and tomato
juice are classified as having porphyrinogenic properties.
Lillian Jensen MS
Hallucinations Can Occur in Porphyria
Hallucinations experienced in association with acute porphyria attacks are not the hallucinations associated with "speed" or other "drug tripping".
The hallucinations that are sometimes experience during acute attacks of porphyria are termed "sensory hallucinations".
This type of hallucination is the seeing or hearing of things that just plain do not exist.
Hallucinations are abnormal sensory perceptions.
Such hallucinations can occur while a person is awake and conscious.
Hallucinations can be the hearing of voices when no one has spoken.
Hallucinations can be the seeing of lights, or objects, or persons which are not
Hallucinations can also be the feeling of a crawling sensation on the skin.
Auditory hallucinations are more common in psychotic conditions.
During acute porphyria attacks, if the patient begins to hallucinate and has
become detached from reality, the caretakers should immediately seek medical
evaluation for the porphyria patient.
People who are hallucinating may become agitated, paranoid, and frightened and should not be left alone.
There are numerous medical as well as psychiatric causes of hallucinations.
Causes of hallucinations associated with acute porphyria include Delirium,
confusion, disorientation, agitation, psychotic depression, and mental change
due to electrolyte inbalance due to the porphyria itself.
Dr. Kenneth Carlson
Genetic Counseling Requires Testing
When porphyria patients think of DNA testing they often wonder exactly what kind of information will become available through such testing.
Many diseases arise because of a variant in a single gene. When the cell reads the
variant genetic code, it produces a variant protein. Presdently over 4000 of the
genetic diseases we known currently arise from variants in single genes.
Understanding and knowledge of these genes and diseases are known not because
they are common nor because they represent the bulk of diseases influenced by
genes, but because these are the easiest genetic diseases to find and understand.
Many of the current genetic tests can detect variants in the single genes that cause these diseases.
Unfortunately, most diseases are not so easily known or well defined.. Genetic influences on disease cover a wide range.
Single-gene diseases can lie at one end of the spectrum. If you have two defective
genes, you have a specific disease. The particular defect that causes that particular disease is well understood. But hundreds of other variations in the same gene are
also known. Most do not cause obvious disease.
Then there are more complicated diseases. And beyond that are even diseases that arise from variants in several genes. Each of these gene variants has a weak or moderate effect.
The sum of the effects of these variants can have a powerful influence on whether
Genetic tests themselves can be quite accurate. The results of the tests are not
yes or no answers, but percentages. So, many genetic tests -- even when they are
very accurate -- give a relative risk However knowing only the risk factor may help a patient or doctor make health decisions.
Of grave concern in genetic testing is how the tests are carrried out.The results
of genetic tests must be handled differently than the usual medical tests being conducted in the typical clinic or hospital laboratory.
Genetic tests can be difficult to understand and therefore genetic specialists need to attend such testing.
Genetic tests can have more far-ranging effects that the usual medical tests. If
one person carries a problem-causing gene, family members may carry it, too.
Because of this, each family member will have to make the decision whether to
get tested, and, if so, whether to tell the results to the other family members.
This whole issue revolves around privacy concerns.
In porphyria, if child and grandparent test positive, that is enough information
to be very confident that the parent will also test positive, even if the parent
has decided not to get the test! This is true even if the parent is latent.
In some family situations, genetic testing could divide extended families into
those who will get the disease and those who won't. Porphyria is a hard enough
disease to deal with without causing family members to divide.
If you are considering genetic testing for any of the porphyrias, this testing
should be undertaken along with genetic counseling. Genetic tests must be
conducted side by side with genetic counseling.
Linda Stewart PhD
Genetics & Biochemistry
Peripheral Neuropathy and Porphyria
Many people experience some type of peripheral neuropathy.
PN as most people have come to know it, is a general term for disorders of the peripheral nervous system.
Such neuropathies may affect just one nerve or several nerves. When only one nerve is involved, it is known as mononeuropathy. When several nerves are involved in a neuropathy, it is known as a polyneuropathy.
There are various symptoms that a patient can experience ith having neuropathy.
Symptoms of neuropathy can range from a mild tingling or to a complete numbness.
What symptoms take place is dependent on which nerves are involved. Neopathy can
involve in the fingers or toes.
Neuropathy can also present as searing or burning sensation to one's hand or feet.
There can be severe foot pain.
A person with porphyric neuropathy can lose some of the feeling in the feet or
Often muscle weakness accompanies neuropathy. There may be paralysis of certain muscles/ It is not uncommon to have problems with your bowels or bladder.
Porphyric neuropathy symptoms result from damage to the nerves that link the brain
to the muscles, organs, skin and to the blood vessels.
In treating peripheral damage caused by porphyria, treating the underlying
condition can relieve some cases of peripheral neuropathy just by avoiding
continuing acute attacks.
In addition, treating peripheral neuropathy due to porphyria often requires
focus on managing pain.
It should be known that most often peripheral nerves have an unique ability to regenerate themselves.
Dr. Maurice Simons
Neurology & ReHabilatation Medicine
When Mental Changes May Mean Illness
Mental changes are a common feature of acute porphyric attacks, especially when a
patient has electolyte imbalances.
Most mental change in porphyria patients resolves quickly
and is not viewed as a mental illness.
In the early days of
treating porphyria patients, patients were often institutionalized
in mental hospitals, because physicians lacking physical clinical evidence,
charted the mental changes and either dismissed the patient when the mental changes resolved or institutionalized the patient.
With today's deeper understanding of the porphyrias, and
"hallmark" citations by the American Psychological Association,
porphyria patients are no longer institutionalized nor cited as
having mental illness.
However, like persons with all other type of medical conditions,
a given individual with porphyria may well experience a true mental illness
To ascertain whether a person is experiencing a true mental health condition,
there are a few things to evaluate.
Does the patient have a marked change in personality?
Does the the patient have contuining delusions after the attack has subsided?
Does the patient continue to express strange ideas even after
the acute attacks has subsided?
Is there inability to cope with problems and daily activities?
Does the patient exhibit excessive anxiety while in periods of
Does the patient exhibit prolonged feelings of sadness?
Does the patient have a marked change in sleeping patterns?
Does the patient have a marked change in eating habits?
Does the patient exhibit excessive anger?
If a porphyria patient is experiencing any of these symptoms, it
may be appropriate to consult your personal physician and ask for a referral to a
mental health professional.
Dr. Kenneth Carlson
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.
ORANASE is a brand name for the generic drug TOLBUTAMIDE. It is a sulfonylurea.
SIDE EFFECTS: .Porphyria cutanea tarda and photosensitivity reactions have been reported with sulfonylureas. Skin eruptions rarely progressing to erythema multiforme and exfoliative dermatitis have also been reported.
Metabolic REACTIONS - Hepatic porphyria has been reported. WARNING: This drug is UNSAFE for porphyria patients.
THILODEXIN is a brand name for the generic drug
DEXAMETHASONE. 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.