|
PORPHYRIA FACTS:
AIP DIAGNOSIS & TREATMENT
DIAGNOSIS
Diagnosis of AIP is made on clinical grounds and increased erythrocytic and
urinary porphobilinogen and aminolevolinic acid (ALA) levels (metabolic
intermediates of heme).
SOURCE:
The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
+++++++++++
Acute intermittent porphyria can be diagnosed by increases in urine
delta-aminolevulinic acid and porphobilinogen and confirmed by reduced
erythrocyte porphobilinogen deaminase activity and normal or near-normal stool
porphyrins.
SOURCE:
Clinical Biochemistry
1999 Nov;32(8):609-19
++++++++++++
About 14% of AIP patients will have a normal PBG-Deaminase level during red
blood cell testing.
SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++
Fourteen percent of AIP patients will appear normal in PBG-D levels in blood
testing.
SOURCE:
Clinical Biochemistry
1999 Nov;32(8):609-19
++++++++++++
AIP mimics a variety of other disorders and is quite difficult to diagnose on the
basis of signs and symptoms alone.
SOURCE:
Acute intermittent porphyria in a
children's psychiatric hospital.
Boon, F. F. and C. Ellis
J Am Acad Child Adolesc Psychiatry
1989; 28(4): 606-9.
+++++++++++
Diagnosis of AIP is made on clinical grounds and increased erythrocytic and
urinary porphobilinogen and aminolevolinic acid (ALA) levels (metabolic
intermediates of heme).
SOURCE:
The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
+++++++++++
AIP Type I can be confirmed by specific porphobilinogen deaminase in the
blood.
SOURCE:
Diagnostic dilemmas in acute intermittent porphyria.
Periasamy V, al Shubaili A, Girsh Y.
Department of Neurology
Ibn Sina Hospital
Safat, Kuwait.
Medical Principles & Practice
2002 Apr-Jun;11(2):108-11
+++++++++++
A patient can be initially diagnosed erroneously with a negative screening test
for AIP and consequently treated inappropriately.
SOURCE:
Diagnostic dilemmas in acute intermittent porphyria. A case report.
Periasamy V, al Shubaili A, Girsh Y.
Department of Neurology
Ibn Sina Hospital
Safat, Kuwait.
Medical Principles & Practice
2002 Apr-Jun;11(2):108-11
++++++++++
Diagnosis of AIP Type I is made on clinical grounds and increased erythrocytic
and urinary porphobilinogen and aminolevolinic acid (ALA) levels (metabolic
intermediates of heme).
SOURCE:
The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
+++++++++++
Diagnosis is made on clinical grounds and increased erythrocytic and urinary
porphobilinogen and aminolevolinic acid (ALA) levels (metabolic intermediates
of heme).
SOURCE:
Metabolic Disorders
Porphyrias: Clinical Manifestations, Diagnosis and Treatment
Bernardo Haddock Lobo Goulart & Samanta Teixeira Basto
+++++++++++
AIP mimics a variety of other disorders and is quite difficult to diagnose on the
basis of signs and symptoms alone.
SOURCE:
Dr. Robert Johnson M.D.
Retired Clinician
++++++++++
AIP is manifested with a wide spectrum of clinical manifestations and it is called
"the great imitator"."
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 is the most common type of acute porphyria.
SOURCE:
"The Porphyrias"
Karl E. Anderson M.D.
HEPATOLOGY:
A Textbook of Liver Disease
W.B. Saunders Company
Philadephia 1996
++++++++++
PBG excretion may remain high during remission in AlP and can even be
increased substantially in affected adults who have never had an acute attack.
In these individuals, PEG increases still further during an acute attack but, in
practice, this change is often difficult to detect and attribution of symptoms to
acute porphyria in such circumstances requires careful clinical assessment.
However, a normal PEG concentration excludes porphyria as the cause of
symptoms in an individual with AIP.
SOURCE:
Front line tests for the investigation of suspected porphyria.
A C Deacon, G H Elder.
Journal of Clinical Pathology.
July 2001
v54 i7 p500.
++++++++++++
Proper diagnosis of AIP can be made after repeating the screening test followed
by specific tests of porphobilinogen deaminase.
SOURCE:
Diagnostic dilemmas in acute intermittent porphyria. A case report. Periasamy V,
al Shubaili A, Girsh Y.
Department of Neurology
Ibn Sina Hospital
Safat, Kuwait.
Medical Principles & Practice
2002 Apr-Jun;11(2):108-11
++++++++++++
Many AIP gene carriers are assymtomatic.
In the absence of factors that precipitate an attack, many, if not most, individuals
may go undiagnosed.
Morover, the signs and symptoms of AIP when present, may be ascribed to
more common causesof abdominal pain or neurological dysfunction.
SOURCE:
Acute Intermittent Porphyria
Scheiber, William E. et. al.
American Jornal of Clinical Pathology
Vol. 103 No. 6
June 1995
+++++++++
Early diagnosis is important in patients with of acute intermittent porphyria (AIP)
in patients with atypical presentation.
SOURCE:
Diagnostic dilemmas in AIP
Periasamy V, et. al.
Department of Neurology,
Ibn Sina Hospital,
Safat, Kuwait.
Medicine Principles & Practices
2002 Apr-Jun;11(2):108-11
+++++++++
AIP patients can be initially diagnosed erroneously with a negative screening
test for AIP and consequently treated inappropriately.
SOURCE:
Diagnostic dilemmas in AIP
Periasamy V, et. al.
Department of Neurology,
Ibn Sina Hospital,
Safat, Kuwait.
Medicine Principles & Practices
2002 Apr-Jun;11(2):108-11
+++++++++++++
AIP - CLINICAL FINDINGS
The clinical pattern of AIP involves abdominal, neurologic and psychiatric
symptomatology.
SOURCE:
Acute intermittent porphyria
Sedlak T, et. al.
Bratislava Lek Listy, Slovakia
++++++++++++
AIP is marked constipation, nausea, vomiting, postural hypotension, and
hypertension as common features.
SOURCE:
British Medical Journal
Helen Thadani
Diagnosis and management of porphyria
Bristish Medical Journal
June 17, 2000
++++++++++++
In the 1966 "The Porphyrias" published in Scientific American journal the
following clinical and diagnostic features of AIP were published.
Acute females account for 63% of AIP patients.
General symptoms of AIP
90% experience abdominal pain.
87% experience abdominal tenderness
72 % experience red or dark urine
66% experience nonabdominal pain
61 % experience nausea & vomiting
56 % experience constipation
28% experience loss of appetite
23 % experience amenorrhea (absence of menses)
11 % experience breast secretions
9 % experience diarrhea
Neurologic symptoms of AIP
74% experience peripheral neuropathy
27% experience sensory disorder
16% experience respiratory paralysis
56 % experience behavorial change
40% experience irritability
40% experience anxiety
30 % experience hallucinations
30 % experience confusion
12 % experience seisure
28 % experience depressed or absent tendon reflexes
28% experience cranial nerve involvement
Physical findings of AIP
83 % experience red or dark urine
50 % experience tachycardia
44 % experience labile hypertension
31 % experience fever
24 % experience postural hypotension
12 % experience profused sweating
11 % experience hypertrichosis (hirsutism - excessive body hair)
8 % experience hyperpigmentation
46% experience muscle denevation
27 % experience dexreased nerve conduction velocity
SOURCE:
Scientific America
The Porphyrias
+++++++++
Abdominal examination in AIP usually finds nothing remarkable.
Despite the intense pain, the findings on abdominal examination often are
nonspecific."
SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
"Acute intermittent porphyria"
Thomas G DeLoughery, MD
Associate Director
Department of TransfusionMedicine
Division of Clinical Pathology
Associate Professor
Department of Medicine
Division of Hematology and Medical Oncology
Oregon Health Sciences University
Portland, Oregon
++++++++++++
Catecholamine levels can increase up to 10-fold during an exacerbation of AIP.
SOURCE:
Hypertension and renal disease in acute intermittent porphyria
Andersson C, Lithner F.
Journal of Internal Medicine
1994;236:169-175.
+++++++++++++++
Not uncommonly, there may be fever and leukocytosis associated.
SOURCE:
Dr. Robert Johnson M.D.
Retired Clinician
+++++++++++++
Folate damage was found in conjunction with Acute Intermittent Porphyria in a
12 year old boy.
The AIP was confirmed and heretofore been considered rare before puberty.
SOURCE:
.Neurology 43(7):
1438-9.
1993
Folate deficiency and acute intermittent
porphyria in a 12-year-old boy."
DiMario, F. J., Jr., J. J. Quinn, et al.
+++++++++++
AIP Clinical pattern involves abdominal, neurologic and psychiatric
symptomatology.
SOURCE:
Acute intermittent porphyria
Sedlak T, Pontuch P, Duris I.
Univerzity of Komenskehov
Bratislava, Slovakia
Bratislava Lek Listy
1998 Oct;99(10):536-7
+++++++++++
Erythrocyte PBGD activity is decreased in only 84% of AIP patients.
AIP patients with results within the reference interval. are mainly in the variant
form of AIP.
SOURCE:
Molecular and biochemical studies of acute
intermittent porphyria
Kauppinen R, et. al.
Department of Medicine,
Division of Endocrinology,
University Hospital of Helsinki,Finland.
Clinical Chemistry
2002 Nov;48(11):1891-900
+++++++++++++
Acute intermittent porphyria mimics a variety of commonly occurring disorders
and thus poses a diagnostic quagmire.
SOURCE:
Journal of Psychotherapy
1995;
64(3-4):121-30
"Porphyria: reexamination of psychiatric implications."
Burgovne K. MD et al.
Harbor-UCLA Medical Center,
Torrance 90509, USA.
+++++++++++++
Abdominal pain is usually the first sign of AIP,
SOURCE:
The Porphyrias
Meyer, Urs A.
Harrison's Principles of Internal Medicine,
12th ed. Mc GrawHill, 1991.
+++++++++++
CRIM -Positive AIP (Type III) is characyterized by decreased PBG deaminase
activity.
SOURCE:
The Porphyrias
Kappas, A. et. al.
The Metabolic Basis of Inherited Disease
7th Edition 1995
++++++++++++
CRIM Negative AIP (Type I) is a subtype of AIP.
SOURCE:
The Porphyrias
Kappas, A. et. al.
The Metabolic Basis of Inherited Disease
7th Edition 1995
++++++++++++
In a diagnosis of Acute Intermittent Porphyria (AIP) there is a deficiency of PBG
deaminase (50% of normal) activity in erythrocytes except for 14% which belong
to a subtype.
SOURCE:
The Porphyrias
Medical Handbook
1997
+++++++++
Laboratory findings in AIP show that the defect in porphobilinogen deaminase
causes a build up of ALA and porphobilinogen (PBG) which causes their
increased secretion in the urine.
SOURCE:
Acute Intermittent Porhyria
Anne LeMaistre, M.D.
1995
TMC
++++++++
Manifestations of AIP vary and may lead to very different clinical pictures.
SOURCE:
Symptoms due to porphyria
Schattenberg AV et. al.
Ned Tijdschur Geneeskd
August 8; 142 1998
++++++++
AIP Type II is without erythrocyte PBG Deaminase deficiency.
APproximately 14% of all AIP patients carry this subtype.
SOURCE:
The Porphyrias
Kappas, A. et. al.
The Metabolic Basis of Inherited Disease
7th Edition 1995
+++++++++++
The activity of PBG deaminase is half normal, both in acute and latent cases in
all but 14% of AIP patients, those with a subtype. (AIP Type II.)
SOURCE:
The Porphyrias
Alana Adams RPH
Welsh Drug Information Center
Cardiff, Wales, U.K.
++++++++++++++
Acute intermittent porphyria urine studies will often show variants do to drugs
such as barbiturates, sulfonamides, and griseofulvin which also may precipitate
acute episodes.
SOURCE:
Anderson KE, Bloomer JR,
Bolwell B, Lichtin AE.
Department of Dermatology,
Columbia University College of
Physicians and Surgeons, New
York, New York, USA
+++++++++++
AIP should be considered in individuals with unexplained recurrent weakness
and limb pain.
Once diagnosis is established, effective therpy can often be prescribed,
andexacerbating medications can be avoided."
SOURCE:
Arthritis and Rheumatism
March 1997 Vol. 40 No. 3
page 587
+++++++++++++
Because AIP is considered to be somewhat rare and can mimic a host of other
more common conditions, its presence is often not suspected.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
+++++++++++++
Often AIP is not diagnosed or is diagnosed incorrectly because AIP can mimic
many other more common diseases.
SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++
The diagnosis of AIP and other types of porphyria is sometimes made incorrectly
in patients who do not have porphyria at all, particularly if laboratory tests are
improperly done or misinterpreted.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
+++++++++++++
In general for a diagnosis of AIP one must have increased evels of
ALA and PBG in 24 hour urine tests.
For Type I AIP patients there will also be a diminished level of PBG-deamanase
in the red blood cells.
SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++
The finding of increased levels of delta-aminolevulinic acid (ALA) and
porphobilinogen (PBG) in urine establishes that one of the acute porphyrias is
present.
If PBGD is deficient in normal red blood cells then the diagnosis of AIP is
established.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
+++++++++++++
Measuring PBGD in red blood cells should not be relied upon by itself to
exclude AIP in a sick patient, because the enzyme is not deficient in red blood
cells of all AIP patients.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
+++++++++++++
AIP Laboratory diagnosis is based on the detection of delta-aminolevulinic acid,
porphobilinogen, uroporphyrin and coproporphyrin in the urine.
SOURCE:
Acute intermittent porphyria
Sedlak T, Pontuch P, Duris I.
Univerzity of Komenskehov
Bratislava, Slovakia
Bratislava Lek Listy
1998 Oct;99(10):536-7
++++++++++++++
To the degree that folic acid is able to activate and stimulate PBGD activity it
matters little if the mutation is a Type I or a Type II mutation diminished
levels of PBGD in every mitochondrial bearing cell excluding the blood in
Type II activity of PBGD.
SOURCE:
Robert Johnson MD
Internal Medicine
Retired Clinican
PES Advisory Board
++++++++++++
In Type II AIP the genetic defect does not cause a PBGD deficiency that is
measurablein the blood and that this does occur in approximately 14% of the
population.
This can and has led to problems in getting a diagnosis but has little or no effect
on treatment.
SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++
The genetic mutation that results in Type II AIP,while not affecting PBGD levels
in the blood, DOES result in diminished PBGD levels in EVERY other
mitochondria bearing cell of the body.
SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++
DNA testing and liver biopsy as well as the standard 24 hour urine tests can
prove diagnosis of AIP.
SOURCE:
Robert Johnson MD
Internal Medicine
Retired Clinican
PES Advisory Board
++++++++++++++++
In acute intermittent porphyria, (AIP) porphobilinogen and delta aminolevulinic
acid are elevated in acute attacks.
SOURCE:
Mercedes Ramirez FNP
Hemotology
+++++++++++
Out of 385 AIP patients 87% had lowered, 8% had overlapping and 5% had
normal PBGD activity.
Gene carriers of AIP having slight, moderate or high metabolic aberrations of
excretion parameters are recognized by analysis of urinary heme precursors and
faecal porphyrins.
The haem precursor excretion of the groups with lowered, overlapping and
normal PBGD activity in erythrocytes compared to each other is not significantly
different but differs significantly (p < 0.001) from the normal values.
One individual suffering from AIP was detected in a family with normal PBGD.
SOURCE:
Heme precursors and porphobilinogen deaminase in erythrocytes and
lymphocytes of patients with acute intermittent porphyria.
Gross U, Jacob K, Frank M, Doss MO.
Abteilung fur Klinische Biochemie
Philipps-Universitat
Marburg, Germany.
Cell Mol Biol (Noisy-le-grand).
1997 Feb;43(1):29-35.
++++++++++
A deficiency of PBG deaminase (50% of normal) activity in erythrocytes is found
is AIP Type I patients.
In AIP Type II the PBG deaminase will be normal.
SOURCE:
The Porphyrias
Clinical Laboratory Studies
Biochemistry Department
School of Medicine
+++++++++
In AIP they may be mild increases of urinary uroporphyrin and coproporphyrin
found.
SOURCE:
Mercedes Ramirez FNP
Hemotology
+++++++++++
AIP clinical features of an acute attack vary greatly.
SOURCE:
British Medical Journal
Helen Thadani
Diagnosis and management of porphyria
Bristish Medical Journal
June 17, 2000
+++++++++
Porphobilinogen is increased in many but not all patients with acute intermittent
porphyria in latent periods.
SOURCE:
Mercedes Ramirez FNP
Hemotology
+++++++++++
The activity of PBG deaminase is half normal, both in acute and
latent cases in all but 14% of AIP patients, those with a subtype.
SOURCE:
The Porphyrias
Alana Adams RPH
Welsh Drug Information Center
Cardiff, Wales, U.K.
+++++++++
Quantitative porphobilinogen is a better test than delta aminolevulinic acid
overall for acute intermittent porphyria, but bothare used as well as the
Watson-Schwartz test.
SOURCE:
Mercedes Ramirez FNP
Hemotology
+++++++++++
Lymphocytes can be stored in liquid nitrogen for 3 months without loss of PBGD
activity.
Specific PBGD activity in lymphocytes is 5% from specific PBGD activity in
erythrocytes.
In AIP patients with lowered specific PBGD activity in erythrocytes specific
PBGD activity is lowered to the same extent in their lymphocytes.
SOURCE:
Heme precursors and porphobilinogen deaminase in erythrocytes and
lymphocytes of patients with acute intermittent porphyria.
Gross U, Jacob K, Frank M, Doss MO.
Abteilung fur Klinische Biochemie
Philipps-Universitat
Marburg, Germany.
Cell Mol Biol (Noisy-le-grand).
1997 Feb;43(1):29-35.
+++++++++++
In AIP patients which can be divided into three different groups, the first group
has lowered, the second overlapping and the third normal porphobilinogen
deaminase activity.
SOURCE:
Heterogeneity of acute intermittent porphyria: a subtype with normal erythrocyte
porphobilinogen deaminase activity in Germany.
Gross U, Honcamp M, Doss MO.
Abteilung fur Klinische Biochemie
Klinikum der Philipps-Universitat Marburg
Deutschland.
European Journal of Clinical Chemistry & Clinical Biochemistry. 1996
Aug;34(8):613-8.
+++++++++++
The acute visceral pain of porphyria has been confused with virtually every
acute surgical condition of the abdomen and has resulted in exploratory
laparotomies.
Laparotomies are incisions that go through the flank, or more generally, through
any part of the abdominal wall on occasion.
SOURCE:
Dr. Robert Johnson M.D.
Retired Clinician
+++++++++++
The clinical manifestations of AIP include paroxysms of acute abdominal pain,
neurologic changes and paresis.
SOURCE:
Prognosis of acute porphyria
Kauppinen R, Mustajoki P.
Medicine. 1992;71:1-13
++++++++++
Catecholamine levels can increase up to 10-fold during an exacerbation of AIP.
SOURCE:
Hypertension and renal disease in acute intermittent porphyria
Andersson C, Lithner F.
Journal of Internal Medicine
1994;236:169-175.
++++++++++++
An investigation of AIP subjects did not demonstrate an increased rate of
bilirubin
production.
This provides evidence that ineffective erythropoiesis does not occur in these
patients.
SOURCE:
Neurology
July 1993
F.J. DiMArio Jr., M.D., et. al.
+++++++++++
Signs and symptoms of AIP rarely start before puberty.
SOURCE:
The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
+++++++++++++
Sometimes in AIP the level of salt (sodium and chloride) in the blood decreases
markedly and contributes to some of the AIP symptoms.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++
Measuring PBGD in red blood cells should not be relied upon by itself to exclude
AIP in a sick patient, because the enzyme is not deficient in red blood cells of all
AIP patients.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++++
There are no differences in the latent and clinical phases of acute intermittent
porphyria between patients with lowered and those with normal porphobilinogen
deaminase.
SOURCE:
Heterogeneity of acute intermittent porphyria: a subtype with normal erythrocyte
porphobilinogen deaminase activity in Germany.
Gross U, Honcamp M, Doss MO.
Abteilung fur Klinische Biochemie
Klinikum der Philipps-Universitat Marburg
Deutschland.
European Journal of Clinical Chemistry & Clinical Biochemistry. 1996
Aug;34(8):613-8.
+++++++++++
Clinical and biochemical findings have shown that such can provoke the
neurologic manifestations of AIP.
SOURCE:
Neurologic manifestations of acute intermittent porphyria
Popova VN, Tsyganova AM.
Russia
Zh Nevropatol Psikhiatr Im S S Korsakova.
1971;71(4):541-4.
++++++++++++
Studies have found that 17-Oxosteroid conjugates in plasma and urine of
patients with acute intermittent porphyria.
SOURCE:
17-Oxosteroid in AIP.
Goldberg A. et. al.
Clin Sci Mol Med.
1974 Feb;46(2):207-22.
+++++++++
In AIP there has been found abnormal metabolism of steroid
hormones.
SOURCE:
A defect of steroid hormone metabolism.
Kappas A, et.al.
Fed Proc.
1972 Jul-Aug;31(4):1293-7
++++++++++++
In AIP there is most often an appearance of "port-wine" urine (PBG ->
porphobilin).
SOURCE:
The Porphyrias
Clinical Laboratory Studies
Biochemistry Department
School of Medicine
+++++++++
All porphyria patients with clinically manifest acute porphyria have elevated
SHBG ( Sex hormone-binding globulin) levels.
SOURCE:
Porphyria and sex hormones
Madejewicz S, Plachecka-Gutowska M.
Polish Archives of Medicine Wewn.
1966;37(3):349-50.
++++++++++++
In AIP urine collections there are often found brown pigments.
SOURCE:
The Porphyrias
Clinical Laboratory Studies
Biochemistry Department
School of Medicine
+++++++++
The porphyrin and porphobilinogen screens in AIP and if positive then
quantitative ALA, PBG, and porphyrins (which should be increased) are
definitive for AIP urine studies.
SOURCE:
The Porphyrias
Clinical Laboratory Studies
Biochemistry Department
School of Medicine
+++++++++
In AIP there is a defect in the reductive transformation of natural steroid
hormones in the hereditary liver disease.
SOURCE:
Studies in porphyria.
Kappas A, et. al.
J Exp Med.
1972 Nov 1;136(5):1043-53.
+++++++++
In blood serum studies in AIP patients there may be increased ALA, PBG.
SOURCE:
The Porphyrias
Clinical Laboratory Studies
Biochemistry Department
School of Medicine
+++++++++
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
+++++++++++
In blood serum studies in AIP patients there is often found
hypercholesterolemia.
SOURCE:
The Porphyrias
Clinical Laboratory Studies
Biochemistry Department
School of Medicine
+++++++++
In the 1966 "The Porphyrias" published in Scientific American journal the
following clinical and diagnostic features of AIP were published.
Acute females account for 63% of AIP patients.
General symptoms of AIP
90% experience abdominal pain.
87% experience abdominal tenderness
72 % experience red or dark urine
66% experience nonabdominal pain
61 % experience nausea & vomiting
56 % experience constipation
28% experience loss of appetite
23 % experience amenorrhea (absence of menses)
11 % experience breast secretions
9 % experience diarrhea
Neurologic symptoms of AIP
74% experience peripheral neuropathy
27% experience sensory disorder
16% experience respiratory paralysis
56 % experience behavorial change
40% experience irritability
40% experience anxiety
30 % experience hallucinations
30 % experience confusion
12 % experience seisure
28 % experience depressed or absent tendon reflexes
28% experience cranial nerve involvement
Physical findings of AIP
83 % experience red or dark urine
50 % experience tachycardia
44 % experience labile hypertension
31 % experience fever
24 % experience postural hypotension
12 % experience profused sweating
11 % experience hypertrichosis (hirsutism - excessive body hair)
8 % experience hyperpigmentation
46% experience muscle denevation
27 % experience dexreased nerve conduction velocity
SOURCE:
Scientific America
The Porphyrias
+++++++++
At the time of the acute attack, screening tests like the Hoesch or
Watson-Schwartz test for the detection of PBG inurine.
A positive screening test should always be confirmed by a quantitative test for
PBG in the urine.
SOURCE:
Acute Intermittent Porhyria
Anne LeMaistre, M.D.
1995
TMC
+++++++++++
During acute episodes of AIP, the production and urinary excretion of
delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) are increased.
SOURCE:
Porphyria Resources
United Medical Services
1996
++++++++++
A brown-red coloration i AIP is due to porphyrinogens reacting with light being
oxidized to porphyrins.
SOURCE:
Acute Intermittent Porphyria
J.W. Stevens et. al.
Anesthesia & Analgesia
Volume 82 No. 2
February 1996
+++++++++++
The most frequent symptoms were: abdominal pain,tachycardia, dark urine,
neurological and psychiatric alterations and arterial hypertension.
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.
++++++++++
The 50% reduced activity of porphobilinogen deaminase (PBG-D) enzyme
found in AIP heterozygote persons is sufficient for basal conditions, but during
attacks, stimulation of haem synthesis upstream produces toxic spillover
products that give a purple color to the urine.
SOURCE:
Acute intermittent porphyria
Brekke OL. et. al.
Medisinsk avdeling Nordland Sentralsykehus 8092 Bodo.
Tidsskr Norwegian Laegeforen
2002 Apr 30;122(11):1102-5
++++++++++
Urinalysis in Acute Intermittent Porphyria (AIP) patients shows a "port-wine"
urine (PBG -> porphobilin) with brown pigments.
SOURCE:
The Porphyrias
Medical Handbook
1997
++++++++++++
TREATMENT
Treatment of AIP is based on large amounts of glucose administration for 4
days.
It is important to avoid precipitating factors such as drugs and fasting.
SOURCE:
The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
+++++++++
Administration of intravenous glucose
has proven effective for bringing
acute attacks under control.
SOURCE:
Diagnosis of acute intermittent
porphyria in northern Sweden:
an evaluation of mutation analysis
and biochemical methods.
Andersson C, Thunell S, Floderus et al
Journal of Internal Medicine
1995; 237: 301 8.
++++++++++
Heme deficiency in the liver of AIP patients stimulates an increase in
ALA-synthase which triggers an escalating metabolic chain reaction, leading to
an increase in the porphyrin content.
This reaction can be reduced by treating AIP patients with glucose.
SOURCE:
Effects of diabetes mellitus on patients with acuteintermittent porphyria
C. Andersson et. al.
Journal of Internal Medicine
Volume 245
Issue 2 Page 193 -
February 1999
++++++++++
High carbohydrate intake, glucose infusion or heme arginate are the first line of
treatment for the acute porphyrias.
SOURCE:
Treatment of Porphyria
Paul J.H. Wilson and Felix W.M. de Rooij
The Porphyrin Handbook
Volume 14 – Medical Aspects of Porphyrins
Porphyrins
(Chapters 85-96)
++++++++++
Two therapeutic approaches that may prove to reverse the fundamental disease
process, at least in some patients, involve [1] a high carbohydrate intake, and [2]
intravenous administration of hematin.
The latter, only recently introduced, is now being investigated with mixed results.
SOURCE:
Acute intermittent porphyria:
clinical and selected research aspects.
Tschudy DP, Valsamis M, Magnussen CR.
Annals of Internal Medicine
1975 Dec;
83(6):851-64.
++++++++
AIP treatment is based on large amounts of glucose administration for 4 days.
SOURCE:
Metabolic Disorders
Porphyrias: Clinical Manifestations, Diagnosis and Treatment
Bernardo Haddock Lobo Goulart & Samanta Teixeira Basto
University Medical School, Brazil
+++++++++
Treatment of AIP is based on large amounts of glucose administration
for 4 days.
It is important to avoid precipitating factors such as drugs and fasting.
SOURCE:
The Porphyrias
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
+++++++++
The first therapeutic step in AIP is oral and/or parenteral administration of an
overload of carbohydrates and, if there was no response,
intravenous infusion of hematin is prescribed.
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.
+++++++
The therapy for AIP is based on infusions of 10% glucose solution and
hydromineral imbalance correction.
SOURCE:
Acute intermittent porphyria
Sedlak T, Pontuch P, Duris I.
Univerzity of Komenskehov
Bratislava, Slovakia
Bratislava Lek Listy
1998 Oct;99(10):536-7
+++++++++
Acute attacks are treated with glucose intravenously.
SOURCE:
Acute intermittent porphyria
Brekke OL. et. al.
Medisinsk avdeling Nordland Sentralsykehus 8092 Bodo.
Tidsskr Norwegian Laegeforen
2002 Apr 30;122(11):1102-5
+++++++++
Treatment of AIP patients entails treating both the symptoms and the
complications, but also requires an endeavor to reverse the fundamental
disease by prescribing a carbohydrate-rich diet and by treating the attacks
with intravenous infusions of glucose.
SOURCE:
Beneficial Effect of Diabetes on
Acute Intermittent Porphyria
Folke Lithner, MD, PHD
Department of Internal Medicine
University Hospital, Umea, Sweden
Diabetes Care
2002; 25:797-798
++++++++++
The therapy for AIP is based on infusions of 20% glucose solution and
hydromineral imbalance correction.
SOURCE:
Acute intermittent porphyria
Sedlak T, et. al.
Bratislava Lek Listy, Slovakia
1998 Oct;99(10):536-7
+++++++++
Heme deficiency in the liver of AIP patients stimulates an increase in
ALA-synthase which triggers an escalating metabolic chain reaction,
leading to an increase in the porphyrin content.
This reaction can be reduced by treating AIP patients with glucose.
SOURCE:
Effects of diabetes mellitus on patients with acute intermittent porphyria
C. Andersson et. al.
Journal of Internal Medicine
Volume 245
Issue 2 Page 193 -
February 1999
++++++++++
A porphyria patient with lower extremity numbness, paresthesias, constipation,
urinary retention, and sexual dysfunction.
Laboratory evaluation confirmed a diagnosis of acute intermittent
porphyria (AIP).
A combination therapy of B-6 and glucose infusion was used.
SOURCE:
Acute intermittent porphyria with atypical neuropathy.
Goren MB, Chen C.
Department of Medicine, Fairfax Hospital, Va.
Southern Medical Journal
1991 May;84(5):668-9.
++++++++++
Carbamazepine
Porphyria resolves spontaneously after the withdrawal of carbamazepine
and sodium valproate and the commencement of parenteralnutrition with
subsequent carbohydrate loading.
SOURCE:
Variant acute intermittent porphyria in a child.
Badcock, N. R., G. D. Zoanetti, et al. (1990).
Clinical Chemistry 1990;
36(5): 812-4.
+++++++++
Hematin
+++++++++
Heme Arginate
+++++++++
Magnesium sulphate
The most important advantage of using magnesium sulphate in AIP patients is
that there has been no report in the literature of any magnesium-related increase
in ALA synthetase activity.
SOURCE:
Magnesium sulfate for AIP seizures.
Taylor, R. L.
Neurology
31(10): 1371-2. 1981
+++++++++++
Pain symptoms
Frequent doses of narcotic analgesia will usually treat pain associated with
Acute Intermittent Porphyria (AIP).
SOURCE:
The Porphyrias
Medical Handbook
1997
+++++++++++
Psychiatric symptoms
In a study done with an AIP patient, they found that the patient responded well
the the safety of trifluoperazine.
Although response and sensitivity to drugs may vary greatly among patients with
this porphyria, clinicians may want to consider the possibility of the this drug
to treat psychiatric symptoms in patients with acute intermittent porphyria.
SOURCE:
Clinical Pharmacological Therapy
1999 Sep;66(3):323-5
"Psychotropic drugs in acute intermittent porphyria."
Holroyd S, et. al.
Department of Psychiatric Medicine,
University of Virginia Health Sciences
Charlottesville VA
++++++++
AIP PROGNOSIS & MORTABLITY
The clinical course of acute porphyria is variable.
SOURCE:
Acute intermittent porphyria in a
children's psychiatric hospital.
Boon, F. F. and C. Ellis
J Am Acad Child Adolesc Psychiatry
1989; 28(4): 606-9.
++++++++++++
The prognosis is usually good if the disease is recognized and if treatment and
preventive measures are begun before severe nerve damage has occurred.
Although symptoms usually resolve after an attack, some patients develop
chronic pain.
SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++
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.
+++++++++++++
AIP may run a serious invalidating and life-threatening course.
SOURCE:
Symptoms due to porphyria
Schattenberg AV et. al.
Ned Tijdschur Geneeskd
August 8; 142 1998
+++++++++++
The majority of AIP patients are free of symptoms during times of remission.
SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
"Acute intermittent porphyria"
+++++++++++
Most acute AIP patients are completely free of symptoms between attacks.
SOURCE:
"Acute intermittent porphyria"
Thomas G DeLoughery, MD
Associate Director
Department of TransfusionMedicine
Division of Clinical Pathology
Associate Professor
Department of Medicine
Division of Hematology and Medical Oncology
Oregon Health Sciences University
Portland, Oregon
++++++++++
Quality of life is lower in acute intermittent porphyria (AIP) than in other forms of
porphyria and a significant number of patients have major life event
consequences, e.g. failure to secure, or loss of, employment, limitation of family
size.
SOURCE:
Journal of Inherited Metabolic Disease
2001 Dec;24(7):733-47
Self-rated psychosocial consequences and quality of
life in the acute porphyrias.
Millward LM, Kelly P, Deacon A, Senior V, Peters TJ.
Department of Clinical Biochemistry,
GKT School of Medicine,
King's College, London, UK.
++++++++++
Most deaths in AIP occurr during the initial porphyric attack (20% of deaths)
or a subsequent attack (38% of deaths).
Suicide was also common.
The proportionate increase in mortality due to symptomatic AIP was 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:
American Journal of Medical Genetics
1996 Nov 1
65(4):269-73
"Mortality in patients with acute intermittent porphyria requiring hospitalization: a
United States case series"
Pierach Claus A,MD Bloomer Joseph R MN et.al.
Watson Laboratory,
University of Minnesota, Minneapolis, USA.
+++++++++++
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