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AIP PORPHYRIA SYMPTOMS
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PORPHYRIA FACTS
AIP - SYMPTOMS

Characterization of hepatic acute porphyria.

Most individuals who inherit the gene for AIP porphyria never develop
symptoms.

SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++



"Hepatic porphyrias are characterized by episodic acute attacks that consist of
various neuro-psychiatric symptoms and signs, such as abdominal pain,
vomiting, constipation, hypertension, profused sweating, tremors, seizure,
peripheral neuropathies, and tachycardia associated with increased excretion of
porphyrins and porphyrin precursors.

SOURCE:
Journal of Photodermatololy, Photoimmunology and Photomedicine
1998 Apr;
14(2):48-54
"Management of the acute porphyrias."
Kauppinen R, M.D.
Department of Medicine,
University Hospital
Helsinki, Finland.
++++++++++++

The neurovisceral symptoms consist of autonomic neuropathies (eg, colicky
abdominal pain, vomiting, hypertension), peripheral neuropathy, seizures,
delirium, coma, depression, and constipation.

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
++++++++++++++

In Acute Intermittent Porphyria the following percentages denote what patients
experience what major symptoms during an acute attack.

Most severe Deficiency of PBG deaminase

GI symptoms in 95%

70% colicky abdominal pain and tenderness,

80% Vomiting

75% Consitpation

50% limb pain & myalgia

Endocrine

Hyponatraemia if severe

SIADH

Motor neuropathy in 66%

Symmetrical

Limb & girdle muscles

Trunk

Respiratory weakness

20% Paraesthesiae

20% Fits

30% Cranial nerve palsy

35% Sensory loss

25% Diminished or absent tendon reflexes

50% Psychosis

Cardiovascular in 70%

65% Sinus Tachycardia upto 160/min

60% Hypertension

15% Leucocytosis

15% Pyrexia

SOURCE:
Rosebud
Anesthesia
United Kingdom
++++++++++

AIP is caused by an altered autonomic activity.

SOURCE:

The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
+++++++++++++

AIP usually does not have skin manifestations.

SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
"Acute intermittent porphyria"
++++++++++++

AIP displays neurovisceral symptoms but usually no skin manifestations."

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
++++++++++++++



AIP is not associated with cutaneous sensitivity except for 14% whih are
known to have cutaneous symptoms in associaiton with a specific subtype
of AIP.

SOURCE:
Adventis WAO
2000-2001
++++++++++

Expression of AIP does not include skin problems.

SOURCE:
Porphyria Resources
United Medical Services
1996
++++++++++


The clinical manifestations of AIP include paroxysms of acute abdominal pain,
neurologic and psychiatric changes, and paresis

SOURCE:
Treatment of Hypertension in a
Patient With Acute Intermittent Porphyria?
Bruce Gardner, MD
Associate Clinical Professor of Family Medicine
University of Washington, Seattle
Attending Physician, Family Medicine
Swedish Hospital and Medical Center, Seattle
+++++++++++++


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 majority of AIP patients are assymptomatic.

SOURCE:

The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
++++++++++

In the acute attack the neurological dysfunction can involve any portion
of the nervous system.

SOURCE:
Acute Intermittent Porhyria
Anne LeMaistre, M.D.
1995
TMC
+++++++++++++


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.
+++++++++


Abdominal pain

**********SEE SEPARATE FILE “AIP - ABDOMINAL PAIN”





The abdominal pain of AIP is severe and lasts for several days.

SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
"Acute intermittent porphyria"
+++++++++++

It is believed that an imbalance in the autonomic innervation of the gut leads to
abdominal pain in AIP which is commonly associated with the attack.

SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
++++++++++


The most common symptom of AIP is severe abdominal pain, which may be
accompanied by neurological and psychiatric symptoms.

SOURCE:
British Medical Journal
Helen Thadani
Diagnosis and management of porphyria
Bristish Medical Journal
June 17, 2000
+++++++++++++

Severe abdomen pain of short (<1 d) duration or chronic abdominal pain is
unusual.

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
+++++++++++




ANS (Altered neurologic state)

ANS can present during attacks

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++

ANS (alter neurologica syndrome) can present during AIP

SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
+++++++++++


ANS is commonly experienced during acutre attacks of AIP.

SOURCE:
Robert Johnson MD
Interal Medicine
+++++++++

Ataxia

Ataxia can be associated with AIP.

SOURCE:
Robert Johnson MD
Internl Medicine
++++++++

Acute Intermittent Porphyria (AIP) patients often experience acute ataxia.

SOURCE:
Porphyria
New Vision Medical Services
1997
+++++++++++

Autonomic neuropathy

Autonomic neuropathies in AIP include sweating.

SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
+++++++++

In acute attacks of AIP the neurological dysfunction can involve any portion of
the nervous system.


SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
++++++++++++

Autonomic neuropathies in AIP include labile hypertension.

SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
+++++++++

Autonomic neuropathies in AIP include sinus tachycardia.

SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
+++++++++





Autonomic nervous system

The Autonomic nervous system is involved in AIP.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

The autonomic nervous system is the part of the nervous system that regulates
vital functions of the body that are not consciously controlled (involuntary).

It includes the activity of the heart, the smooth muscles (as digestive muscles),
and the glands.

It has two divisions: the sympathetic nervous system speeds up the heart
rate,narrows blood vessels, and raises blood pressure.

The parasympathetic nervous system slows heart rate, increases intestinal and
gland activity, and relaxes ringlike muscles thaT close passages (splincters)

SOURCE:
Mosby Medical Encyclopedia
Revised Edition
Plume Books
+++++++++++++



Basal ganglion

Cerebellar & basal ganglion involvement can both occurnin AIP.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Central nervous dysfunction can be seen as well with cerebellar and basal
ganglion involvement."

SOURCE:
Acute Intermittent Porhyria
Anne LeMaistre, M.D.
1995
TMC
++++++++++



Bladder dysfunction

Bladder dysfunction may be present during AIP attaciks.

SOURCE:
United Medical Services
Medical Informaiton Services
1996
+++++++++++

Bladder dysfunction has been described in AIP.

Urinary retension in AIP may require catherization.

SOURCE:
"The Inherited Porphyrias"
Anderson, Karl E, McGovern, Margaret.,
Astrin, Kenneth & Desnick, Robert J.
Emery and RImon's Principles and Practices of Medical Genetics
3rd Edition
Churchill, New York, 1996
+++++++++++++

Bladder dysfunction has been described in AIP.

SOURCE:
"The Inherited Porphyrias"
Anderson, Karl E, McGovern, Margaret.,
Astrin, Kenneth & Desnick, Robert J.
Emery and RImon's Principles and Practices of Medical Genetics
3rd Edition
Churchill, New York, 1996
+++++++++++

Urinary retention in AIP may require catherization.


SOURCE:
"The Inherited Porphyrias"
Anderson, Karl E, McGovern, Margaret.,
Astrin, Kenneth & Desnick, Robert J.
Emery and RImon's Principles and Practices of Medical Genetics
3rd Edition
Churchill, New York, 1996
+++++++++++



Bladder dysfunction is commonly associated with acute attacks of AIP.

SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++

Bladder dysfunction is often noted during the onset of acute attacks of porphyria.

SOURCE:
Acute Porphyrias: Pathogenesis of
Neurological Manifestations
Urs. A Meyers M.D. et. al.
Seminars in Liver Disease
Vol. 18, Number 1
January 1998
+++++++++++++++

Blood pressure drops

Blood pressure drops can occur in AIP.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Some AIP neuropathy can cause extreme drops in blood pressure when
standing up for example.

SOURCE
Mosby Medical Encyclopedia
Revised Edition
Plume Books
++++++++++


Body Pain

Diffuse pain is often associated with AIP.

SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
"Acute intermittent porphyria"
++++++++++++



Diffuse pain, especially in the upper body, can be observed in AIP patients.

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
+++++++++++




Bulbar paralysis

**********SEE SEPARATE FILE AIP: PN ASPECTS


Bulbar paralysis is common in AIP.

Some complications of peripheral neuropathy include difficulty in swallowing.

SOURCE:
Mayo Health News
The Mayo Clinic
Rochester, MInnesota
++++++++++++++

Cardiovascular aspects

Abnormal cardiovascular reflexes may occur in AIP.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Objective signs of autonomic neuropathy in porphyria is evidenced by abnormal
cardiovascular reflexes.


SOURCE:
Acute Porphyrias: Pathogenesis of
Neurological Manifestations
Urs. A Meyers M.D. et. al.
Seminars in Liver Disease
Vol. 18, Number 1
January 1998
+++++++++++


Objective signs of autonomic neuropathy in porphyria is evidenced by abnormal
cardiovascular reflexes.

SOURCE:
Acute Porphyrias: Pathogenesis of
Neurological Manifestations
Urs. A Meyers M.D. et. al.
Seminars in Liver Disease
Vol. 18, Number 1
January 1998
+++++++++++++

Autonomic disorders play a major part and may provoke severe cardiovascular
symptoms.

Findings upport data describing supra- ventricular tachycardia as the most
important sign.

This is followed by hypertension, or rarely, hypotension, cardioaarhythmias and
cardiomyopathy.

Chronic hypertension is the most significant disorder in the cardiovascular
aspects of AIP.

SOURCE:
Cardiovascular disorders in acute porphyria.
KF Leonhardt MD
Wien Klin Wochenschr
October 1981
pages 580-4
+++++++++++++

Central nervous dysfunction

Central nervous dysfunction can be seen as well with hallucinations, seizures,
coma, bulbar paralysis, hypothalamic dysfunction, or cerebellar and basal
ganglion involvement.

Electrolyte imbalances must be immediately corrected with intravenous drip.


SOURCE:
Lifelines:
Journal of Emergency Medicine
October 1998
123: 437-443
Emergency Treatment of the Porphyric Patient
Kirsch, N,.E., M.D.
++++++++++


Cholesterol

***SEE SEPARATE FILE AIP - CHOLESTEROL

High cholesterol is ommonly found among AIP patients.

SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++

High cholesterol is associated with AIP.

SOURCE:
Acute Intermittent Porphyria from Clinical to Molecular Aspects
Jean-Charles Deybach and Hervé Puy
The Porphyrin Handbook
Volume 14 &#8211; Medical Aspects of Porphyrins
Porphyrins
(Chapters 85-96)
++++++++++

Hypercholesterolaemia is commonly associated with AIP porphyria

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Hypercholesterolaemia has been described in acute hepatic porphyria.

Serum cholesterol is usually persistently raised.Serum triglyceride may be
normal. Lipoprotein cholesterol ultraconfrigugation usually shows an increase.

Sometimes there will be additional abnormalities of plasma proteins.

SOURCE:
A.G.L. Whitelaw
St. Mary's Hospital London UK
"Acute porphyria, hypercholesterolaemia"
page 407 Short Reports
++++++++++++

Increased cholesterol levels can be seen in the acute porphyria.

SOURCE:
Acute Intermittent Porhyria
Anne LeMaistre, M.D.
1995
TMC
+++++++++

Coma

There may be Coma in AIP.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Coma has been clinically observed in AIP patients during acute attacks.

SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++

AIP patients may have central nervous system signs consisting of coma.

SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
++++++++++++++

Coma may be present in AIP.

SOURCE:
"Acute intermittent porphyria"
Thomas G DeLoughery, MD
Department of Medicine
Oregon Health Sciences University
Portland, Oregon
++++++++++++++

Central nervous dysfunction can be seen as well with coma involvement.

SOURCE:
Acute Intermittent Porhyria
Anne LeMaistre, M.D.
1995
TMC
+++++++++++

Constipation

The classical clinical triad of AIP is abdominal pain, vomiting, and constipation.

However, more recent reports have changed the triad to abdominal pain,
peripheral neuropathy, and mental changes, thus underscoring nervous
system involvement.

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.
++++++++++++++

In Acute Intermittent Porphyria (AIP) 60% of patients experience constipation.

SOURCE:
Porphyria
New Vision Medical Services
1997
+++++++++++

Over half of AIP patients suffer with constipation.

SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++

In AIP Hyponatraemia occurs as a result of dehydration, nephrotoxicity, or
occasionally inappropriate antidiuretic hormone secretion.

SOURCE:
British Medical Journal
Helen Thadani
Diagnosis and management of porphyria
Bristish Medical Journal
June 17, 2000
+++++++++++++++


Convulsions

Convulsions can present during attacks

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++

Cortical blindness

Cortical blindness can be found in AIP

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Transient blindness in AIP is an unusual manifestation.

Such a manifestation is probably due to involvement of the opticnerve or retinal
artery spasm.

SOURCE:
Arthritis and Rheumatism
March 1997 Vol. 40 No. 3
page 586
++++++++++




AIP patients may have central nervous system signs consisting of cortical
blindness.


SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
+++++++++++++++

In some instances patients with acute intermittent porphyria have presented with
acute cortical blindness.

Vasospasm in both posterior cerebral arteries has been inferred.

SOURCE:
Annals of Internal Medicine
Volume 123 Number 8
October 15, 1995
Hugo Kupferschmidt et.al.
++++++++++++++++
Cranial nerves manifestations due to porphyria may lead to optic nerve atrophy.

SOURCE:
Metabolic Disorders
Porphyrias: Clinical Manifestations, Diagnosis and Treatment
Bernardo Haddock Lobo Goulart & Samanta Teixeira Basto
++++++++++++

Porphyric does affect the eyes

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Ocular manisfestations of porphjyria can be present in AIP.

Neuro-ophthalmological complications include optic neuritis, optic atrophy,
ptosis, cranial nerve palsies and retinal hemorrhages.

SOURCE:
Psoriasis, Ichthyosis, and Porphyria
Drs. Griffith Steiner, & Robert Arffa
++++++++++++++


There may be cortical blindness in AIP.

SOURCE:
"Acute intermittent porphyria"
Thomas G DeLoughery, MD
Department of Medicine
Oregon Health Sciences University
Portland, Oregon
+++++++++++++++


Cranial involvement


There can be Cranial involvement in acute attacks of AIP.

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++


Diarrhea

In Acute Intermittent Porphyria (AIP) 9% of patients experience diarrhea.

SOURCE:
Porphyria
New Vision Medical Services
1997
++++++++++++

Diarrhea can present during acute attacks of AIP.

SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++

Diarrhea is often present during acute attacks of AIP.

SOURCE:
The Porphyrias
Columbia Health Systems
1997
+++++++++++



Dysesthesia

Dysesthesia often presents in an acute attack of AIP.
SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Dysesthesia, a numbness, tingling, and burning sensation can be present during
an acute attack.

SOURCE:
Acute Porphyrias: Pathogenesis of
Neurological Manifestations
Urs. A Meyers M.D. et. al.
Seminars in Liver Disease
Vol. 18, Number 1
January 1998
+++++++++++++++



Dysuria

Dysuria, a painful urination, is often found in acute attacks of AIP.

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++

Dysuria is often present in AIP.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++


Dysuria, a painful urination, is often found in acute attacks of AIP.

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++

Dysuria has been described in AIP.

Urinary retension in AIP may require catherization.

SOURCE:
"The Inherited Porphyrias"
Anderson, Karl E, McGovern, Margaret.,
Astrin, Kenneth & Desnick, Robert J.
Emery and RImon's Principles and Practices of Medical Genetics
3rd Edition
Churchill, New York, 1996
+++++++++++++

Dysuria has been described in AIP.

SOURCE:

"The Inherited Porphyrias"
Anderson, Karl E, McGovern, Margaret.,
Astrin, Kenneth & Desnick, Robert J.
Emery and RImon's Principles and Practices of Medical Genetics
3rd Edition
Churchill, New York, 1996
++++++++++++++



Dysuria is a manifesation often found during acute attacks of porphyria.

SOURCE:
Acute Porphyrias: Pathogenesis of
Neurological Manifestations
Urs. A Meyers M.D. et. al.
Seminars in Liver Disease
Vol. 18, Number 1
January 1998
+++++++++++


Dysuria is a manifesation often found during acute attacks of porphyria.

SOURCE:
Acute Porphyrias: Pathogenesis of
Neurological Manifestations
Urs. A Meyers M.D. et. al.
Seminars in Liver Disease
Vol. 18, Number 1
January 1998
+++++++++++

Facial hair

Facial hair may occur in some forms of AIP.(subtypes)

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Female

In women with AIP relapses occur particularly premenstrually and in
pregnancy.

SOURCE:
British Medical Journal
Helen Thadani
Diagnosis and management of porphyria
Bristish Medical Journal
June 17, 2000
++++++++++++

Hormones are known to trigger Acute Intermittent Porphyria (AIP).

SOURCE:
Porphyria
New Vision Medical Services
1997
++++++++++++

Many cases of AIP exist in latent form.

In manifest cases AIP is more frequently seen in women.

SOURCE:
Acute Intermittent Porhyria
Anne LeMaistre, M.D.
1995
TMC
++++++++++

Fever

Acute intermittent porphyria can present as fever and weakness.

SOURCE:
Arthritis and Rheumatism
March 1997 Vol. 40 No. 3
page 586
+++++++++++

Fever may accompany acute episodes of AIP..


SOURCE:
Porphyria Resources
United Medical Services
1996
++++++++++

Fever can be a symptom of AIP

SOURCE:

United Medical Services
Medical Terminology
1996
+++++++++++



There may be fever in AIP.

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++

Acute intermittent porphyria can present as fever .

SOURCE:
Arthritis and Rheumatism
March 1997 Vol. 40 No. 3
page 586
++++++++++++




Flaccid paraplegia

********SEE SEPARATE FILE &#8220; AIP - PN ASPECTS


Flaccid paraplegia may occur in AIP.

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++




Foot drop

***********SEE SEPARATE FILE : AIP - PN ASPECTS

Foot drop is part of PN in AIP.

Damage to the motor nerves causes weakness in the upper and lower limbs.

Weakness in the upper and lower limbs is most experienced by patients with a
diagnosis of an acute hepatic porphyria.

SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++

Gastrointestinal dysfunction

Gastrointestinal dysfunction in the acute porphyrias frequently results in
disturbed gut motility

SOURCE:
Acute Porphyrias: Pathogenesis of
Neurological Manifestations
Urs. A Meyers M.D. et. al.
Seminars in Liver Disease
Vol. 18, Number 1 p. 45
January 1998
++++++++++

HCC (Liver cancer)

HCC tumours are examined for specific mutations in tumour suppressor genes
or oncogenes reported in HCC but so far none have been found and at present
the hypothesis explaining the hepatocellular carcinogenesis

in AIP patients is based on disturbed haeme biosynthesis.

SOURCE:
Effects of diabetes mellitus on patients with acute intermittent porphyria
C. Andersson, I. Bylesjö & F. Lithner
Journal of Internal Medicine
Volume 245 Issue 2 Page 193 -
February 1999
+++++++++++

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
Diabetes Care
2002; 25:797-798
+++++++++++++++

Hepatocellular carcinoma (liver cancer) often is found associated with long term
acute inermittent porphyria

SOURCE:Acute Intermittent Porphyria from Clinical to Molecular Aspects

Jean-Charles Deybach and Hervé Puy
The Porphyrin Handbook
Volume 14 &#8211; Medical Aspects of Porphyrins
Porphyrins
(Chapters 85-96)
+++++++++

Hepatocellular carcinonoma (liver cancer) is often associated with AIP.

SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
+++++++++++



Hepatic dysfunction

Hepatic dysfunction in AIP is common.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

CNS abnormalities include seizures, delirium and coma. Hepatic dysfunctions
are common.

SOURCE:
Metabolic Disorders
Porphyrias: Clinical Manifestations, Diagnosis and Treatment
Bernardo Haddock Lobo Goulart & Samanta Teixeira Basto
++++++++++++
Hepatic dysfunctions in AIP are common.

SOURCE:

The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
++++++++++++



Hyperpigmentation

Hyperpigmentation may occur in one form of AIP, aipy tYPE ii A SUBTYPE.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++




Hypertension

Hypertension is part of an acute attack of AIP.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Hypertension is usually present, and hypertensive encephalopathy may
develop.

Besides hypertension, severe postural hypotension, resulting in syncope may
occur.

Hypertension may persist to some extent between attacks.

SOURCE:
Porphyria Research Unit
Department of Medicine
Brisbane, Queensland
1999
++++++++++++++

Hypertension is more common in patients with manifest AIP than in those with
latent AIP."

SOURCE:
Hypertension and renal disease in patients with acute intermittent porphyria.
Journal of Internal Medicine
1994 Aug;236(2):169-75
Andersson C, Lithner F.
Primary Health Care Centre,
Arjeplog, Sweden.
++++++++++++

An autonomic neuropathy that may be seen in an acute attack of AIP is that of
labile hypertension, and sinus tachycardia.



SOURCE:
Acute Intermittent Porhyria
Anne LeMaistre, M.D.

1995
TMC
++++++++


Hypertension can present during AIP attacks.

SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
+++++++++++

Hyponatremia

Hyponatremia is often present during acute attacks of AIP.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Among laboratory tests, hyponatremia was notable for its frequency (53.4%) and
intensity.

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
++++++++++

Severe hyponatraemia, due to inappropriate secretion of antidiuretic hormone,
complicates some attacks and sometimes presents as convulsions or
deterioration in the conscious level.

SOURCE:
Porphyria Research Unit
Department of Medicine
Brisbane, Queensland
1999
++++++++++

A severe hyponatremia can develop from inappropriate release of antidiuretic
hormone, gastrointestinal loss and possibly renal loss.

Other associated problems in some patients may be seen with increased serum
binding globulin, increased cholesterol, and increased amylase.

SOURCE:
Lifelines:
Journal of Emergency Medicine
October 1998
123: 437-443
Emergency Treatment of the Porphyric Patient
Kirsch, N,.E., M.D.
++++++++++++

Hypothalamic dysfunction

Hypothalamic dysfunction can occur in AIP.

SOURCE:

United Medical Services
Medical Informational Services
1996
+++++++++++


Central nervous dysfunction can be seen as well with hypothalamic dysfunction.

SOURCE:
Acute Intermittent Porhyria
Anne LeMaistre, M.D.
1995 TMC
+++++++++++++++


Ileus

Ileus frequently presents as a sympton in AIP.

Ileus may occur several years before neurologic illness.

SOURCE:
Acute Peripheral Neuropathy Due toporphyria
Drs. Barohn, Sanchez & Anderson
"MUSCLE & NERVE"
July 1994
++++++++++

Acute Intermittent Porphyria (AIP) can experience distension, and ileus.

SOURCE:
Porphyria
New Vision Medical Services
1997
++++++++++++

Ileus is a common symptom of AIP

SOURCE:
Robert JOhnson MD
Internal Medicine
+++++++++++++

Kidneys (Renal)

There can be kidney failure associated with AIP.

SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
+++++++++++

Renal damage is also associated with AIP.

The pathophysiologic changes seen are due to vasospastic effects,
which may also underlie some of the neurologic changes seen in AIP.

SOURCE:
Treatment of Hypertension in a Patient With Acute Intermittent Porphyria?
Bruce Gardner, MD
Associate Clinical Professor of Family Medicine
University of Washington, Seattle
Attending Physician, Family Medicine
Swedish Hospital and Medical Center, Seattle
+++++++++++++

Leukocytosis

Autonomic neuropathy is damage to nerves of the autonomic nervous system.

Leukocytosis is often found in lab findings during an attack of AIP.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Leukocytosis is a term used to describe an abnormal elevation on the white
blood cell count. Normal white blood cell counts are variable with age and sex.

Normal adult range is 4, 500 to 11,000 cells per cubic millimetre of blood.

Slightly higher counts are seen in children.

Elevated counts can be seen in cases of inflammation and infection and can be
found in porphyria patients during acute attacks.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++


Leukocytosis often found in lab findings during attack

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Leukocytosis is a term used to describe an abnormal elevation on the white
blood cell count. Normal white blood cell counts are variable with age and sex.

Normal adult range is 4, 500 to 11,000 cells per cubic millimetre of blood.

Slightly higher counts are seen in children.

Elevated counts can be seen in cases of inflammation and infection and can be
found in porphyria patients during acute attacks.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++++

Mental changes

****SEE SEPARATE FILE AIP-PSYCHIATRIC

There can be psychiatric changes in AIP.

SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
+++++++++++

AIP is characterized various other neuropsychiatric signs and symptoms.

SOURCE:
Molecular genetics of acute intermittent porphyria in Finland
Sami Mustajoki
Division of Endocrinology,
Department of Medicine,
University of Helsinki &
Department of Human Molecular Genetics,
National Public Health Institute, Finland
++++++++++++

AIP acute attacks often present with various neuropsychiatric signs and
symptoms.

SOURCE:
Marja-Liisa Savontaus, Ph.D.
Department of Medical Genetics
University of Turku, Finland
+++++++++++++

There may be depression associated with AIP.

SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
+++++++++++

Psychiatric manifestations of Acute Internmittent Porphyria (AIP).

include:

anxiety

depression

hallucinations

hysteria

insomnia, paranoia

paranoia

restlessness

violence

SOURCE:
Columbia Health Care
1998
+++++++++++

The clinical manifestations of AIP include neurologic and psychiatric changes.

SOURCE:
Treatment of Hypertension in a
Patient With Acute Intermittent Porphyria?
Bruce Gardner, MD
Associate Clinical Professor of Family Medicine
University of Washington, Seattle
Attending Physician, Family Medicine
Swedish Hospital and Medical Center, Seattle
++++++++++


Motor Weakness

Most often attacks are accompanied by motor weakness in the limbs.

SOURCE:
Dr. Stanley L. Wiener
"Differential Diagnosis of Acute Pain"
McGraw-Hill 1993
++++++++++++++

Muscle pain & weakness

Muscle pain, and weakness are symptoms of AIP.

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++


There may be muscle pain in AIP.

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++

Acute intermittent porphyria can present as acute muscle pain.

SOURCE:
Arthritis and Rheumatism
March 1997 Vol. 40 No. 3
page 586
++++++++++++

Muscle loss

**********SEE SEPARATE FILE: AIP - PN ASPECTS


Nasea

Frequently nausea is noted during acute attacks of porphyria.

SOURCE:
Acute Porphyrias: Pathogenesis of Neurological Manifestations
Urs. A Meyers M.D. et. al.
Seminars in Liver Disease
Vol. 18, Number 1
January 1998
+++++++++++++++

Nausea is easily treatable in AIP by using either Zofran tablets or Compazine
suppositories.

SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++


Pain


Pain is found in AIP.

Two years later in 1959 Goldberg found in his study that 94 % of the porphyria
patients indicated abdominal pain.

Twenty years later, in 1979 Drs. Stein and Tschudy found that 95% of all
porphyria patients indicate having the abominal pain.

Chest, back, and limb pain may also occur either in the presence of or absence
of abdominal pain.

While not everyone experiences abdominal pain, and while it may not be present
with every acute attack, abdominal pain still remains one of the major symptoms
of acute intermittent porphyria.

SOURCE:
Dr. Robert Johnson
Retired Clinician
PES Newsletter
August 2002
++++++++

Back pain can occur in AIP.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Frequent doses of narcotic analgesia will usually treat pain associated with
Acute Intermittent Porphyria (AIP).

SOURCE:
The Porphyrias
Medical Handbook
1997
+++++++++

Diffuse pain, especially in the upper body, can be observed in AIP patients.

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
++++++++++++

About half of all AIP patients experience back pain as a symptom associated
with their porphyria.

SOURCE:
D. Montgomery Bissell
Hepatic Porphyrias
Chapter 31
Diseases of the Liver
6th Edition / Lippincott
++++++++++++

Back and leg pain are often present in AIP.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

If peripheral neuropathy, such as pain in the back and legs or parathesias
occurs, it is almost always preceded by abdominal pain."

SOURCE:
Acute Intermittent Porphyria
Anne LeMaistre, M.D.
1995 TMC
++++++++++++


Abdominal pain and ileus are frequent presenting symptoms in porphyria and
may occur several years before neurologic illness.

SOURCE:
Acute Peripheral Neuropathy Due toporphyria
Drs. Barohn, Sanchez & Anderson
"MUSCLE & NERVE"
July 1994
++++++++++

Paresis

************SEE SEPARATE FILE: AIP - PN ASPECTS


Paresis takes time for remission

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++









Paresthesis

**********SEE SEPARATE FILE: AIP - PN ASPECTS


Paresthesis and motor weakness often present in AIP.

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++


Perittonism

Perittonism is absent in abdominal pain


Severe abdominal pain without signs of perittonism is seen in almost all attacks
of acute porphyria.
SOURCE:
Acute Porphyrias: Pathogenesis of Neurological Manifestations
Urs. A Meyers M.D. et. al.
Seminars in Liver Disease
Vol. 18, Number 1
January 1998
++++++++++

PN in AIP



PN often will develop in acute attack

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++



Respiratory paralysis


Respiratory paralysis in AIP is a most dangerous symptoms

SOURCE:
Lifelines:
Journal of Emergency Medicine
October 1998
123: 437-443
Emergency Treatment of the Porphyric Patient
Kirsch, N,.E., M.D.
+++++++++++++

Seizures

Central nervous dysfunction in AIP can be seen as well seizures.

SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
++++++++++
++++++++++++++SEE SEPARATE FILE: AIP - SEIZURES

Seizures can occur in AIP porphyria

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Seizures are a complication of acute attacks or porphyria.

SOURCE:
Wintrobe's Clinical Hematology
9th edition Vol. 1
page 1286
"The Porphyrias"
Dr. Herbert Bonkovsky
+++++++++++++

CNS abnormalities include seizures.

SOURCE:

The Porphyrias
Anderson, Karl E
Cecil Textbook of Medicine,
13th ed. Mc Graw Hill,
1994.
+++++++++++++

Treatment of seizure activity in AIP is complicated because the use of
anti-seizure medications are for the most part contraindicated for AIP
patients.

SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++++++

Seizures may results from hyponatremia, hypomagnesemia, or the direct effect
of the porphyria diathesis on glial cells.

SOURCE:
Wintrobe's Clinical Hematology
9th edition Vol. 1
page 1286
"The Porphyrias"
Dr. Herbert Bonkovsky
+++++++++++++

Hyponatremia associated with AIP can cause seizure activity.

SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++++

Management of seizures is a difficult problem because most effective
anticonvulsants are contraindicated.

SOURCE:
Wintrobe's Clinical Hematology
9th edition Vol. 1
page 1286
"The Porphyrias"
Dr. Herbert Bonkovsky
+++++++++++++

Seizures are often found in AIP patients during exacerbation of
their disease.

Such seizures respond well to treatment with the use of Gabapentin.

SOURCE:
Treatment of seizures in AIP
Tatum WO 4th, Zachariah SB.
Neurology 1995;45(6):1216-7
+++++++++++

Correction of gross electrolyte disturbances may control seizure in most
patients.

Please note that hematin has not been evaluated as an anticonvulsant.


SOURCE:
Wintrobe's Clinical Hematology
9th edition Vol. 1
page 1286
"The Porphyrias"
Dr. Herbert Bonkovsky
+++++++++++++

Seizure activity can preent during AIP attacks.

SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
+++++++++++


AIP patients may have central nervous system signs consisting of seizures,"

SOURCE:
Medicine Journal
February 22 2002
Volume 3, Number 2
++++++++++++

CNS activity in AIP can produce seizure activity.



SOURCE:
"Acute intermittent porphyria"
Thomas G DeLoughery, MD
Department of Medicine
Oregon Health Sciences University
Portland, Oregon
+++++++++++



Sensory loss

There can be Sensory loss in acute attacks of AIP.

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++

Sensory loss can be found in 15% of attacks of AIP patients.


Similiar findings are found among VP and HCP patients.


SOURCE:
"The Porphyrias"
Diseases of the Liver
6th Edition 1987
Dr. Motgomery Bissell MD
University of California-San Francisco
*Member of the APF medical advisory board
+++++++++++

Skin involvement

When the skin is involved, as it is in all non-acute and some acute types,
symptoms from sensitivity to sunlight may include a wide variety of problems
such as rashes, blisters, changes in skin pigment, changes in facial hair, and
fragile skin that injures more easily.

SOURCE:
Evaluating Porphyrin Metabolism
Dr. Grace Ziem, MD
1996
+++++++++


Sweating

Excess sweating in AIP may be due to sympathetic overactivity.

SOURCE:
"The Porphyrias"
Karl E. Anderson M.D.
HEPATOLOGY:
A Textbook of Liver Disease
W.B. Saunders Company
Philadephia 1996
++++++++

Autonomic neuropathies include sweating.

SOURCE:
Acute Intermittent Porhyria
Anne LeMaistre, M.D.
1995
TMC
+++++++++++

Excess sweating in acute attacks of AIP is common in findings.

SOURCE:
Robert Johnson MD
Internal Medicine
+++++++++


"Excess sweating in AIP may be due to sympathetic overactivity."

SOURCE:
"The Porphyrias"
Karl E. Anderson M.D.
HEPATOLOGY:
A Textbook of Liver Disease
W.B. Saunders Company
Philadephia 1996
+++++++++++

Tachycardia

Tachycardia is a part of acute attack

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

A fast pulse or racing heart (tachycardia) may occur in AIP.

SOURCE:
Acute Intermittent Porphyria
Guide to Disease
Columbia Health Systems
1996
+++++++++++



Tachycardia, a fast heart pulse, is usually present during AIP acute attacks.

SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++

Tachycardia is usually present, and hypertensive encephalopathy may develop.

SOURCE:
Porphyria Research Unit
Department of Medicine
Brisbane, Queensland
1999
++++++++++++++

Tendon reflexes

Tendon reflexes can be diminished or absent in AIP.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++



Tendon refelxes may be little affected or may be hyperactive during the early
stages of an acute attack but are usually decreased or absent with advanced.
neuropathy.

SOURCE:
Cecil Textbook of Medicine
Dr. Karl E. Anderson MD
p. 1126
+++++++++++++



Uremia

Uraemia is cited as the cause of death in 9.1% of AIP patients.

SOURCE:
Hypertension in patients with AIP
C. Andersson et. al.
Journal of Internal Medicine 1994
236: 169-175
+++++++++++++
Vascular spasms

Vascular spasms can occur in AIP.

SOURCE:
United Medical Services
Medical Informational Services
1996
+++++++++++

Neuropathies besides abdominal pain and peripheral neuropathy, that may be
seen in an acute attack include vascular spasm.

SOURCE:
Acute Intermittent Porhyria
Anne LeMaistre, M.D.
1995
TMC
+++++++++++


Vomiting

Vomiting most often accompanies the abdominal pain

Attacks of abdominal pain and vomiting may occur in AIP.

SOURCE:
Dr. Stanley L. Wiener
"Differential Diagnosis of Acute Pain"
McGraw-Hill 1993
++++++++++

Nausea and vomiting frequently present during attacks.

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++

In Acute Intermittent Porphyria (AIP) 63% of patients experience vomiting.

SOURCE:
Porphyria
New Vision Medical Services
1997
+++++++++++++

Vomiting associated with acute attacks of AIP can be controlled by the use of
Zofran tablets or Compazine suppositories.

SOURCE:
Robert Johnson MD
Internal Medicine
++++++++++

Frequently vomiting is noted during acute attacks of porphyria.

SOURCE:
Acute Porphyrias: Pathogenesis of
Neurological Manifestations
Urs. A Meyers M.D. et. al.
Seminars in Liver Disease
Vol. 18, Number 1
January 1998
+++++++++++++++

Weakness

Limb weakness is found in acute porphyria.

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++

"Weakness in the upper and lower limbs is most experienced by patients with a
diagnosis of an acute porphyria."

SOURCE:
"Loss of sensation in peripheral neuropathies"
Nerve
October 1998
10:243-251
Wiesenberg, Claus R. M.D. et. al.
++++++++++

There may be weakness in AIP.
SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++
Acute intermittent porphyria can present as weakness.

SOURCE:
Arthritis and Rheumatism
March 1997 Vol. 40 No. 3
page 586
++++++++++++




Wrist drop

There may be wrist drop, as well as respiratory muscle weakness.

SOURCE:
Dr. Stanley L. Wiener
"Differential Diagnosis of Acute Pain"
McGraw-Hill 1993
+++++++++++


Death / Mortality


Death from porphyria is now less than in previous generations.

SOURCE:
United Medical Services
Medical Terminology
1996
+++++++++++

Fatalities from respiratory paralysis suggests that one should not underestimate
acute attacks in any acute hepatic porphyria.

SOURCE
Pavel Martasek, MD
"Hereditary Coproporphyria"
page 25
Seminars in LIver Disease
Vol. 18 No. 1998
++++++++++++++

Most individuals who inherit the gene for AIP porphyria never develop
symptoms.

SOURCE:
Dr. Karl E. Anderson
University of Texas Medical School
Galveston, TX
++++++++++++












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