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.
Combating Pain With Use of Opioids
Porphyria patients often are scrutinized by emergency room personnel when they seek treatment for chronic neuropathic
pain associated with porphyria, or the acute abdominal pain
which present during the onset of an acute attack.
For years there has been medical debate over opioids
The goal of treatment of acute pain is to relieve pain
immediately, usually with medications. Unrelieved pain has
many negative effects, which includes decreased immunity to disease.
For people with chronic pain, the goals of treatment are even
more complex. Many porphyria patients complain that
the chronic pain is worse than the whole ordeal of periodic
Pain relief is important, but so is the ability to function at work and to
be able to enjoy social and leisure activities. Often porphyria patients state that pain medications,while relieving the pain,
also relieve then of the ability to think, to enjoy normal life activities
because they describe diminished mental capacity.
The goal of pain relief and the goal of improved function are
sometimes in conflict.
Narcotics are powerful pain relievers and most often do control pain, or make chronic pain tolerable.
Narcotics when taken in small amounts for short periods, will
generally cause only minor side effects.
However as chronic poprhyria patients so well know, when
narcotics are taken in increasing doses for several weeks or months, these
side effects can become troublesome
With the use of narcotics for long periods of time there can be what is termed as "rebound pain". After taking a narcotic
the pain relief effect will only last for a short period of time.
The pain will then return as the short-acting medications wear off or when they
are withdrawn from your treatment plan.
Another side effect of long term use of narcotics is that of
The use of narcotics can cause changes in your nervous system that may actually heighten your perception of pain and make you feel more uncomfortable.
Because opioids have so many effects, some good and
some bad, and there is concern about their lack of
effectiveness for treating some types of pain, some doctors
restrict the use of opioids when treating chronic pain.
Some physicians may also be uneasy about possible long-term side effects,which
can interfere with rehabilitation and lead to more doctor visits and hospital
stays. These physicians also cite the risk of physical dependence and addiction to opioids.
Other physicians take the position that withholding opioids
leads to unnecessary pain and suffering — that the side
effects of opioids can be managed and that the risk of
addiction is overblown. This view by physicians holds that legal and medically
supervised use of opioids has little in common
with illegal use of such drugs.
For the porphyria patient, the real answer lies in the ability to
combat the severity of the pain which is very real and often very unrelenting.
Robert Johnson M.D.
Eye Management in the Porphyrias
Eyesight is precious. In porphyria "fuzzy eyes" are often a warning of attacks or lingering optic manifestations due to porphyria.
Protecting the eyes is essential. Managing cortical manifestations is also
When applying sunscreen, be sure to include the top
of the eyelids.
Always wear UV-blocking sunglasses whenever you are facing any sun exposure.
As with cutaneous aspects of porphyria, prevention of ocular disease is a
primary concern in the porphyrias.
When outdoors always wear a protective hat to avoid direct
sun and lighting exposure. Snow glare and water reflection of
sun is also to be avoided where possible.
UV-blocking sunglasses are important during sun exposure.
Standard methods for avoiding the complications of corneal exposure are employed
when ectropion occurs.
When ruptured conjunctival occurs or whenever there are corneal vesicles, there
should be the use of topical antibiotics.
Systemic antibiotics are given for secondarily infected cutaneous bullae.
Early lysis of conjunctival adhesions may prevent symblepharon.
Oral steroids are often given for scleritis as well as for treating optic
Scleral grafting may be necessary for scleritis.
In porphyria, like all other menifestations of the disease, care of the eyes and
the eyelids are essential.
Use of preventive measures often protects against severe manifestations of optic exacerbations.
Shannon Mallory PA
Cranial Nerve Involvement in Porphyria
In the acute hepatic porphyrias of AIP, HCP and VP, neurological involvement
includes those of the cranial nerves.
Involvement of the cranial nerves, including the optic nerve, can occur in the
porphyrias marked by neurovisceral complications.
Specifically the nerves involve include paralysis of the third through seventh
Optic atrophy can occur.
Also optic neuritis with disc blurring can present.
There can be optic nerve pallor.
Hemolytic anemia is often observed.
Often a complaint of porphyria patients is that of "transient blindness" or the presentation of visual hallucinations.
Atrophy of ganglion cells and the nerve fiber layer are often noted in porphyria patients.
Because cortical problems in porphyria are caused by both the nuneurological system involving the cranial nerves, as well as
photosensitivity, it is important for porphyria patients to guard their eyes from bright light and especially from direct sunlight.
When "fuzzy eyes" present, it is time to close the eyes and rest, and be sure of
adequate carbohydrate intake, as changes in the eyes has been known to be a warning sign of impending attacks.
Renae Symington MSN, FNP
Ileus is Mimicker of Acute Attacks
Sometimes ileus is mistaken for commons symptoms of an acute attack, and more
often acute attacks are misdiagnosed for ileus.
Ileus is a partial or complete non-mechanical blockage of either the small or large intestine, and sometimes both intestines.
In ileus there can be two types of intestinal obstructions, mechanical and non-mechanical.
Mechanical obstructions occur because the bowel is physically blocked and its
contents can not pass the point of the obstruction.
The non-mechanical obstruction, called ileus or paralytic ileus, occurs because peristalsis stops.
In ileus peristalsis is the rhythmic contraction that moves material through the
Ileus is most often associated with an infection of the peritoneum which is the stomach's membrane lining.
A reduction of the blood supply to the abdomen can also be a cause of ileus.
Ileus can also be caused by kidney diseases, especially when potassium levels are decreased.The loss of potassium is often seen in acute porphyria.
While abdominal pain is often present in acute porphyria, ileus has it's own
presentation with like symptoms. Symptoms of ileium include abdominal cramping, abdominal distention, more nausea and vomiting, and failure to pass gas or stool.
As found in the presentation of acute poprhyria upon examination with a
stethoscope to the abdomen there will be few or no bowel sounds. Likewise in
ileus there will be no bowel sounds
When there are no bowel sound, this indicates that the intestine has stopped functioning.
Ileus can be confirmed by x rays of the abdomen, computed tomography scans
(CT scans), or ultrasound.
Like acute porphyria, It may be necessary to do more further testing. Such tests may include an upper GI series or a barium enema.
As with the treatment for an acute attack, ileus is likewise treated with
supervised bed rest in a hospital.
The patient is feed through iv infusion and the bowel is allowed to rest. No food substance are ingested.
Robert Johnson, M.D.
Mental Change in Porphyria
Inborn errors of metabolism such as the porphyrias, often present with a variety
of psychiatric symptoms.
With new and improved diagnosis of the porphyrias and more treatment options, many porphyria patients have increased lifespans.
One of the concerns however that remains with porphyria patients is that of the
mental changes that often occur in conjection with porphyria.
Increasingly asked of clinicians are issues of long-term
quality of life.
While specific studies have not been undertaken, it is thought that many porphyria patients are in a single state, and many without active caregivers.
The question regarding mental changes is a challenging one, because often the
psychiatric symptoms have been the basis of misdiagnosis among patients, as well
as patients medical needs being discounted or unbelieved in an emergency
This can be a nightmare for the porphyria patient if they present to an emergency
room and then mental change occurs before the patient has been admitted and glucose administration has commenced, along with preventive measures for hypertension, tachycardia, nausea and vomiting and tremor activity, and a complete electrolyte assessment.
Psychiatric symptoms can occur especially in patients who have an imbalanced in electrolytes or in those with cranial pressure and retaining fluids.
Agitation, anxiety, confusion, disorientation, delirium, hallucinations, insomnia, paranonia, psychosis, sensory loss, spasms and tremors can all present.
Depression can quickly occur.
Keeping medical records of previous admission and clinical presentations of
mental change is important. Copies of such information should accompany the
porphyria patient to each hospital or clinic visit. In case of pending attack, a caretaker or "designated spokesperson" for the patient should be able to describe such changes to the attending physician.
Always be sure to emphasize that most mental change will quickly disappear as soon
as carbohydrate administration is well underway. In most cases it is unnecessary
to have a multitude of drugs prescribed. It is important that to remember that
many of the drugs used in a normal healthy psychiatric population are
contraindicated for use in porphyria patients, and will in fact
be life threatening to a patient in some cases, since many
are known triggers of acute attacks.
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.
DIAZIDE 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.
CYCLOMEN is a brand name for the generic drug DANAZOL.
Danazol appears on several of the UNSAFE drug lists for porphyria patients. The drug carries a WARNING for persons with liver disease.>br>
TRIAPRIN 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.
OCTAMIDE is a brand name for the drug METOCLOPRAMIDE. Parkinsonian-like symptoms have occurred. Tardive dyskinesia can occur.Tardive dyskinesia, a syndrome consisting of potentially irreversible, involuntary, dyskinetic movements. Mental depression has occurred in patients with and without prior history of depression. Metoclopramide is listed on several UNSAFE drug lists for use by porphyria patients. It carries a warning for persons with liver disease.