Acute, Intermittent Porphyria

Acute, Intermittent Porphyria: Overview

Acute Intermittent Porphyria (AIP) is probably the most common of the genetic porphyrias.  The highest incidence occurs in Lapland, Scandinavia, and the United Kingdom, although it has been reported in other population groups.  The incidence of the defective gene in the USA has been estimated at between 5 and 10 in 100,000.  The incidence of AIP in psychiatric populations is somewhat higher than in the normal population.  The disorder is expressed clinically after puberty and more commonly in women than in men.

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Porphyria is an inherited disease, usually first manifesting after puberty, that prevents the synthesis of heme, the part of blood that carries oxygen and makes blood red.  There are a number of types of porphyria, some from bone marrow and others from the liver.  Neurological symptoms frequently occur in those stemming from the liver.

Causes and Development

Free porphyrins occur only in small amounts in nature.  Upon illumination at wavelengths 400nm, in the presence of oxygen, porphyrins generate singlet (unbound) oxygen which causes substantial damage to tissues, cells, subcellular elements, and various biomolecules.

Signs and Symptoms

Porphyria is identified by port-colored urine and feces which darken on exposure to light.  Additional symptoms can be loss of vision, sensitivity to light, aches and pains, acne, vomiting, diarrhea, abdominal pain, constipation, and abnormal fat metabolism.  Mental and neurological symptoms include irritability, confusion, delirium, psychosis, depression, hallucinations, seizures, altered consciousness, mood swings, and paralysis.  Genetic carriers can experience mood swings and body pain while exhibiting no other signs of the illness.

Abdominal pain is almost always present and is often the initial symptom of an acute attack.  It may be generalized or localized, and in severe cases can be confused with an acute surgical abdomen.  Other GI features may include nausea, vomiting, constipation or diarrhea, abdominal distention, and ileus.  Urinary retention, incontinence, dysuria, and frequency may be observed.  Tachycardia and hypertension, and less frequently fever, sweating, restlessness, and tremor are also observed.  In up to 40% of patients, hypertension may become sustained between acute attacks.

Neuropathy is a common feature of AIP.  Muscle weakness often begins proximally in the legs but may involve the arms or the distal extremities; involvement may be symmetric, asymmetric, or focal, and may occasionally be associated with a decrease or loss of tendon reflexes.  Motor neuropathy may also involve the cranial nerves (most commonly the 7th and 10th) or lead to bulbar paralysis, respiratory deficiency, and death.  Sensory patchy neuropathy also occurs when motor neuropathy is severe.  Acute attacks of AIP may be accompanied by seizures, especially in patients with hyponatremia due to vomiting, inappropriate fluid therapy, or the syndrome of inappropriate antidiuretic hormone release.  The course of an acute attack of AIP is highly variable both in individuals and between patients, with attacks lasting from a few days to several months.

Signs, symptoms & indicators of Acute, Intermittent Porphyria:

Symptoms - Abdomen

Symptoms - Urinary

Acute, Intermittent Porphyria can lead to:

Lab Values

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Acute, Intermittent Porphyria could instead be:



A review of 2,500 psychiatric patients showed a 1.5% occurrence of porphyria.

Recommendations for Acute, Intermittent Porphyria:


Chelation Therapy

Porphyria has been shown to improve greatly with administration of EDTA.  There is a great diuresis of zinc and copper with a normalization of excretion of these elements with continued treatment.  The improvements seen are thought to be due to a normalization of several metallo-enzyme systems.


Not recommended
Therapeutic Fasting

Fasting should be avoided in cases of porphoria.

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Weak or unproven link: may be a sign or symptom of; sometimes leads to; is very occasionally misdiagnosed as
Weak or unproven link:
may be a sign or symptom of; sometimes leads to; is very occasionally misdiagnosed as
May be useful: may help with
May be useful:
may help with
Should be avoided: is NOT recommended for
Should be avoided:
is NOT recommended for
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