|
PORPHYRIA FACTS
DEATH ASSOCIATED WITH PORPHYRIA
In severe cases of psychosis associated with mental change in acute attacks of
porphyria there can sometimes be suicidal thoughts.
There is a high prevalence of suicide among porphyria patients.
Often during periods of psychosis in acute porphyria, emotion is exhibited in an
abnormal manner.
SOURCE:
Dr. Kenneth Carlson
Neuropsychiatric
+++++++++++++
Many porphyria diagnosis's get missed and the patients suffer and died.
SOURCE:
The Porphyrias
Medicine
71: 1, 1992
+++++++++++
Although the course of porphyria is variable, mortality from these disorders today
is rare.
SOURCE:
Childhood porphyrias.
Ahmed I.
Department of Dermatology,
Mayo Clinic, Rochester, Minn
Mayo Clin Proc. 2002 Aug;77(8):825-36
+++++++++++
The main long-term complications of AIP are polyneuropathy, hepatocellular
carcinoma (HCC), and renal insufficiency.
SOURCE:
Beneficial Effect of Diabetes on
Acute Intermittent Porphyria
Folke Lithner, MD, PHD
Department of Internal Medicine
University Hospital, Umea, Sweden
++++++++++++++
Mortality in acute porphyria stem from , hepatocellular carcinoma (HCC), renal
insufficiency, respiratory paralysis, and polyneuropathy.
SOURCE:
Diabetes Care
2002; 25:797-798
+++++++++++
The death rate for acute
porphyria is highest in
the third decade.
SOURCE:
Porphyria
Dictionary of Medical Syndromes
Fourth Edition 1997
Lippincott-Raven
+++++++++
AIP is a life-threatening medical emergency. Death can occur wihou warning.
SOURCE:
Treatment of acute porphyria.
Elder GH, Hift RJ.
Department of Medical Biochemistry
University of Wales College of Medicine,
Cardiff Wales
Hosp Med. 2001 Jul;62(7):422-5.
+++++++++++
It is particular true for the acute porphyrias to have over-lapping features which
can present with life-threatening acute neurovisceral attacks that require
immediate medical intervention.
SOURCE:
Diagnosis and treatment of the acute porphyrias: an interdisciplinary challenge.
Poblete Gutierrez P, et. al.
Department of Dermatology and Allergology
University Clinic of the RWTH Aachen
Aachen, Germany
Skin, Pharmacology &
Applied Skin Physiology
2001 Nov-Dec;14(6):393-400
++++++++++++
Death usually does not occur unless the disease is not recognized.
SOURCE:
Dr. Karl E. Anderson
The Porphyrias
Hepatology: A Textbook of Liver Disease
Volume 1 Third Edition
1996 W.B. Saunders Company
+++++++++
Acute porphyria often have rapid onset of multiple and profound neurovisceral
dysfunctions that can be fatal.
SOURCE:
Medicine Journal
August 6 2001
Volume 2, Number 8
Maureen Poh-Fitzpatrick, MD
Department of Internal Medicine
Division of Dermatology
University of Tennessee
College of Medicine
+++++++++++
Motor weakness may progress to respiratoryparalysis and death.
SOURCE:
Hepatic Porphyrias
Dr. Dwight Montgomery Bissell M.D. et al
Diseases of the Liver
Sixth Edition 1987
Lippincott Co.
++++++++++++
Respiratory paralysis occurs in about 16%
of acute porphyria attacks.
Oxygen levels needs to be monitored and
life support administered.
Respiratory paralysis in acute porphyria has
been the leading cause of death of acute
porphyria patients."
The Porphyrias
Scientific American
April 1994
+++++++++
A few people have repeated or intermittent attacks
of symptoms separated by long intervals or remissions
between illnesses.
Unfortunately some patients can become very
sick and on rare occasions patients have died.
SOURCE:
The Canadian Porphyria Foundation Inc.
Neepawa, Manitoba, Canada
++++++++++
Death may occur when diagnosis and treatment are delayed.
SOURCE:
Dr, Robert J. Desnick
The Porphyrias
Harrison's Principles of Internal Medicine
Volume 2 13th Edition 1994
McGraw-Hill Inc.
+++++++++
Motor weakness may progress to respiratory
paralysis and death.
SOURCE:
Hepatic Porphyrias
Dr. Dwight Montgomery Bissell M.D. et al
Diseases of the Liver
Sixth Edition 1987
Lippincott Co.
+++++++++
13.3% of AIP patients die even though they
have received treatment, but it had been
administered too late due to a delay
in diagnosis. "
SOURCE:
Porphyric crisis: experience of 30 episodes (AIP)
Medicina
Buenas Aires
999;59(1):23-7
Morales Ortega X, et. al.
Departmento of Medicine
Occidente Hospital San Juan de Dios,
University of Chile, Santiago, Chile.
+++++++++
Sudden death due to cardiac arrhythmia may occur.
SOURCE:
Dr. Karl E. Anderson
The Porphyrias
Hepatology: A Textbook of Liver Disease
Volume 1 Third Edition
1996 W.B. Saunders Company
+++++++++
Rapid onset of multiple and profound neurovisceral
dysfunctions that can be fatal or permanently incapacitating. "
SOURCE:
Medicine Journal
August 6 2001
Volume 2, Number 8
+++++++++++++++
Death may occur when diagnosis and treatment are delayed.
SOURCE:
Dr, Robert J. Desnick
The Porphyrias
Harrison's Principles of Internal Medicine
Volume 2 13th Edition 1994
McGraw-Hill Inc.
+++++++++++++
The porphyrias are emotionally distressful and potentially
lethal disorders that are evidenced prominently with
neurologic and dermatologic expressions.
SOURCE:
NORD
++++++++++
It should be emphasised that most subjects who have inherited one of these
diseases will enjoy normal health and go through life without any knowledge of
his or her disorder or ever experiencing an acute attack.
Such, is the latent phase of the disease.
SOURCE:
Dr. Michael R. Moore
Porphyria Research Unit
University of Queensland
Department of Medicine
Brisbane, Australia 1999
+++++++++++
Onset of multiple and profound neurovisceral dysfunctions that can be fatal or
permanently incapacitating.
SOURCE:
Maureen Poh-Fitzpatrick, MD
Department of Internal Medicine
Division of Dermatology
University of Tennessee
College of Medicine
++++++++++++
Among patients with advanced neuropathy (paralytic) manifestations,
approximately 50% die.
SOURCE:
Hepatic Porphyrias
Dr. Dwight Montgomery Bissell M.D. et al
Diseases of the Liver
Sixth Edition 1987
Lippincott Co.
++++++++++
The most important thing about AIP is to diagnose the disease at the onset.
If not, many severe complications may occur.
Even a lethal outcome in AIP is possible. "
SOURCE:
Vojnosanit Pregl
2001 Jan-Feb;58(1):95-9
Acute intermittent porphyria as a problem in
differential diagnosis
Preradovic M, et. al.
++++++++++
Acute intermittent porphyria (AIP) is
a genetic disorder in which patients
may have life threatening attacks
of neurologic dysfunction.
A study examined the prognosis during
the past 50 years of patients in the
United States who required hospitalization
for porphyric attacks.
The cumulative survival was
determined for 136 patients with
AIP who were hospitalized for
porphyric attacks between 1940
and 1988.
Diagnosis was established on the
basis of clinical symptoms, in
combination with increased
urinary excretion of porphobilinogen.
The patient group had an average
age of 32 years (range 9 to 75) at
diagnosis and consisted of 43 males
and 93 females.
At follow-up, 19 males (44%) and 31
females (33%) were decreased.
The standardized mortality ratio for
the 136 patients, compared to an
age-matched hypothetical population
experiencing USA 1970 Census Death
Rates was 3.2, with a 95% confidence
interval of 2.4-4.0.
Most deaths occurred during the
initial porphyric attack (20% of deaths)
or a subsequent attack (38% of deaths).
Suicide was also common (five deaths).
Comparison was made between 50
patients who were diagnosed before
1971, the year in which hematin
therapy became available, and 86
patients who were diagnosed afterward.
There was improved survival in the
latter group, particularly after 10 years
from the time of diagnosis, but this did
not reach statistical significance.
In conclusion, the proportionate increase in mortality due to symptomatic AIP
was three-fold compared to the general population during the past 50 years.
SOURCE:
Mortality in patients with acute intermittent porphyria requiring hospitalization:
a United States case series.
Pierach CA, Bloomer JR. et. al.
Watson Laboratory
University of Minnesota
Minneapolis, MN
++++++++++++
The effective management of the acute relapse in acute hepatic porphyrias is
clinically important in order to avoid serious consequences such as
a respiratory failure.
Treatment for AIP
Clinica Chimica Acta
1995 page 171-5
Yutaka Horie et al.
+++++++++
The major cause of increased mortality is the porphyric attack itself.
SOURCE:
Mortality in patients with acute intermittent porphyria
SOURCE:
Am J Med Genet.
1996 Nov 11;65(4):269-73.
++++++++++++
The cumulative survival was determined for 136 patients with AIP who were
hospitalized for porphyric attacks between 1940 and 1988.
SOURCE:
Mortality in patients with acute intermittent porphyria requiring hospitalization: a
United States case series.
Pierach CA, Bloomer JR. et. al.
Watson Laboratory,
University of Minnesota,
Minneapolis MN
American Journal of Medical Genetics.
1996 Nov 11;65(4):269-73.
+++++++++++++++++
Diagnosis of AIP is established on the basis of clinical symptoms, in combination
with increased urinary excretion of porphobilinogen.
SOURCE:
Mortality in patients with acute intermittent porphyria requiring hospitalization: a
United States case series.
Pierach CA, Bloomer JR. et. al.
Watson Laboratory,
University of Minnesota,
Minneapolis MN
American Journal of Medical Genetics.
1996 Nov 11;65(4):269-73.
+++++++++++++++++
Most deaths from AIP occurr during the initial porphyric attack (20% of deaths)
or a subsequent attack (38% of deaths).
Suicide is also common in AIP .
SOURCE:
Mortality in patients with acute intermittent porphyria requiring hospitalization: a
United States case series.
Pierach CA, Bloomer JR. et. al.
Watson Laboratory,
University of Minnesota,
Minneapolis MN
American Journal of Medical Genetics.
1996 Nov 11;65(4):269-73.
+++++++++++++++++
The proportionate increase in mortality due to symptomatic AIP is three-fold
compared to the general population during the past 50 years.
The major cause of the increased mortality was the porphyric attack itself.
SOURCE:
Mortality in patients with acute intermittent porphyria requiring hospitalization: a
United States case series.
Pierach CA, Bloomer JR. et. al.
Watson Laboratory,
University of Minnesota,
Minneapolis MN
American Journal of Medical Genetics. 1
996 Nov 11;65(4):269-73.
+++++++++++++++++
The hereditary disorder acute intermittent porphyria is potentially fatal.
SOURCE:
Acute intermittent porphyria treated by testosterone implant.
Savage MW, et. al.
University of Manchester
Department of Medicine and Endocrinology
Hope Hospital, Salford, UK.
Postgraduate Medicine Journal
1992 Jun;68(800):479-81
+++++++++++
The hereditary disorder acute intermittent porphyria is potentially fatal.
SOURCE:
Acute intermittent porphyria treated by testosterone implant.
Savage MW, et. al.
University of Manchester
Department of Medicine and Endocrinology
Hope Hospital, Salford, UK.
Postgraduate Medicine Journal
1992 Jun;68(800):479-81
+++++++++++
The hereditary disorder acute intermittent porphyria is potentially fatal.
SOURCE:
Acute intermittent porphyria treated by testosterone implant.
Savage MW, et. al.
University of Manchester
Department of Medicine and Endocrinology
Hope Hospital, Salford, UK.
Postgraduate Medicine Journal
1992 Jun;68(800):479-81
+++++++++++
Compassion and the Art of Medicine
The humanities can play an important role in maintaining empathy and in
cultivating the compassion that students have on entry into medical school.
At Baylor College of Medicine, our department sponsors a series of lectures by
physicians, artists, and patients on the subject of "compassion and the art of
medicine."
The purpose is to encourage medical students and health care professionals to
become more compassionate and more effective health care providers by
applying the principles of medical humanism to everyday clinical practice.
We invite speakers who are able to articulate their experiences
of illness and suffering. Too often, students are exposed to patients who function
as specimens under glass, and they seldom have the opportunity to spend an
hour listening to patients reflect on the meaning of their illness and the quality of
care they have received.
Speakers include patients who describe examples of compassion or the lack
thereof during an illness.
One example is Sue Baier,[13] who wrote of her experiences with
Guillain-BarrüAae syndrome in Bed Number Ten. Baier
describes the experience of being ignored as a person (nurses
and physicians would talk to each other as though she were not
present) and of being "handled" as an inanimate object because
she was unable to move any muscles except to blink. She was
fully alert, however. Because she was paralyzed, attendants did
not realize that her sensory system was fully intact and that she
experienced considerable discomfort from a rough venipuncture
or from lying on a wrinkled bed sheet.
Another speaker, author and surgeon Richard Selzer,[14] in his
book Raising the Dead, describes his Legionnaires' disease,
involving 23 days of coma and then death. The amazing part of
the story (if it can be believed) is that 10 minutes after being pronounced dead
(which occurred after his electroencephalogram was flat for 5 minutes), he
recovered.
A brain deprived of adequate oxygen that long usually suffers permanent
damage, yet his account shows his writing skills are as sharp as before the
illness.
The other focus of our series is the art of medicine.
In an effort to help students hone their "people skills," we invite writers, artists,
and performing artists to read to us from their writings, to present slides of their
visual art, or to give dramatic performances on various clinical themes.
Some are physicians and others draw from their experiences as patients, many
describing problems that make physicians uncomfortable, such as drug
dependency, alcoholism, and near death.
Originally, we focused on nationally prominent speakers to articulate these
themes. Our experience has shown, however, that the responsiveness of
students is usually determined more by the genuineness of the speakers than
by their prominence.
Speakers who draw from their own illness or experience are the ones who have
the greatest impact and potential to educate and motivate our students.
Acute porphyrias may be life-threatening.
SOURCE:
Management of acute and cutaneous porphyrias.
nternational Journal Clinical Practrice
2002 May;56(4):272-8
Badminton MN, Elder GH.
Department of Medical Biochemistry,
University of Wales College of Medicine,
Cardiff, UK.
+++++++++
Porphyria patients do suffer and porphyria patients do die.
SOURCE:
Medicine 71: 1, 1992.
++++++++++
The porphyrias can be potentially lethal disorders.
SOURCE:
Porphyria Resources
United Medical Services
1996
+++++++++++
Life-threatening respiratory paralysis can be experienced in any of the acute
porphyrias.
SOURCE:
Porphyria Resources
United Medical Services
+++++++++++
Attacks of porphyria can be fatal.
SOURCE:
Porphyria
Dictionary of Medical Syndromes
Fourth Edition 1997
Lippincott-Raven
++++++++++
Acute porphyria is a condition potentially treatable but can be fatal.
SOURCE:
Acute intermittent porphyria as a cause of acute respiratory failure.
Oomman A, Gurtoo A.
Department of Medicine,
JIPMER, Pondicherry.
Journal of Indian Medicine Association
2002 Jan;100(1):44, 46
+++++++++++
Fatal; AIP can occur with abdominal pain and constipation, followed with
subsequently developed status epilepticus, acute respiratory failure and
quadriparesis.
SOURCE:
Acute intermittent porphyria as a cause of acute respiratory failure.
Oomman A, Gurtoo A.
Department of Medicine,
JIPMER, Pondicherry.
Journal of Indian Medicine Association
2002 Jan;100(1):44, 46
+++++++++
The porphyrias are emotionally distressful and potentially lethal disorders that
are evidenced prominently with neurologic and dermatologic expressions.
SOURCE:
NORD
++++++++++
|
