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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.
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 & 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 & 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.
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Signs, symptoms & indicators of Acute, Intermittent Porphoria:
Conditions that suggest Acute, Intermittent Porphoria:
Acute, Intermittent Porphoria could instead be:
Recommendations and treatments for Acute, Intermittent Porphoria: | | | | | Detoxification |  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. |
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Diet |
Not recommended:
 Therapeutic Fasting| | Fasting should be avoided in cases of porphoria. |
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KEY | | Weak or unproven link | | | May do some good | | | Avoid absolutely |
GLOSSARY
Abdomen (Abdominal)
That part of the body between the chest and the hips that contains the stomach, intestines, liver, bladder, pancreas and other organs.
Acne
A chronic skin disorder due to inflammation of hair follicles and sebaceous glands (secretion glands in the skin).
Acute
An illness or symptom of sudden onset, which generally has a short duration.
Constipation (Constipated)
Difficult, incomplete, or infrequent evacuation of dry, hardened feces from the bowels.
Copper
An essential mineral that is a component of several important enzymes in the body and is essential to good health. Copper is found in all body tissues. Copper deficiency leads to a variety of abnormalities, including anemia, skeletal defects, degeneration of the nervous system, reproductive failure, pronounced cardiovascular lesions, elevated blood cholesterol, impaired immunity and defects in the pigmentation and structure of hair. Copper is involved in iron incorporation into hemoglobin. It is also involved with vitamin C in the formation of collagen and the proper functioning in central nervous system. More than a dozen enzymes have been found to contain copper. The best studied are superoxide dismutase (SOD), cytochrome C oxidase, catalase, dopamine hydroxylase, uricase, tryptophan dioxygenase, lecithinase and other monoamine and diamine oxidases.
Diarrhea
Excessive discharge of contents of bowel.
Distal
Anatomically located further away from a point of reference, such as an origin or a point of attachment.
Distention (Distended)
An excess expansion of a tissue or organ, either from inflammation, injury or gas.
Diuresis
Excessive discharge of urine.
Dysuria
Painful urination.
EDTA
Ethylene Diamine Tetraacetic Acid. An organic molecule used in chelation therapy.
Gastrointestinal (GI, GI Tract)
Pertaining to the stomach, small and large intestines, colon, rectum, liver, pancreas, and gallbladder.
Hallucination (Hallucinations)
A false or distorted perception of objects or events, including sensations of sight, sound, taste, smell or touch, typically accompanied by a powerful belief in their reality.
Heme
The deep red iron-containing hemoglobin found in foods of animal origin.
Hormones (Hormone)
Chemical substances secreted by a variety of body organs that are carried by the bloodstream and usually influence cells some distance from the source of production. Hormones signal certain enzymes to perform their functions and, in this way, regulate such body functions as blood sugar levels, insulin levels, the menstrual cycle, and growth. These can be prescription, over-the-counter, synthetic or natural agents. Examples include adrenal hormones such as corticosteroids and aldosterone; glucagon, growth hormone, insulin, testosterone, estrogens, progestins, progesterone, DHEA, melatonin, and thyroid hormones such as thyroxine and calcitonin.
Hypertension
High blood pressure. Hypertension increases the risk of heart attack, stroke, and kidney failure because it adds to the workload of the heart, causing it to enlarge and, over time, to weaken; in addition, it may damage the walls of the arteries.
Ileus
Bowel obstruction.
Incontinence (Incontinent)
The inability to retain urine in the bladder for a reasonable length of time. It is can be caused by urethral irritation, loss of tone to the basement muscle of the bladder (the trigone), scarification or growths on the urethral lining, nerve damage, or emotional stress.
Liver (Hepatic)
The largest and one of the most complex organs of the body, the liver is responsible for much of the metabolism of fats, proteins and carbohydrates. It is the site of much of the body's detoxification. It is connected very closely with digestion and the regulation of blood sugar, among many other functions. Found behind the ribs on the right side of the abdomen, it has many important functions such as removing harmful material from the blood, making enzymes and bile that help digest food, and converting food into substances needed for life and growth. Hepatic: Pertaining to the liver.
Metabolism (Metabolic, Metabolize, Metabolizes, Metabolizing)
The chemical processes of living cells in which energy is produced in order to replace and repair tissues and maintain a healthy body. Responsible for the production of energy, biosynthesis of important substances, and degradation of various compounds. Also defined as the sum total of changes in an organism in order to achieve a balance (homeostasis): Catabolic burns up, anabolic stores and builds up; the sum of their work is metabolism.
Nausea
Symptoms resulting from an inclination to vomit.
Neuropathy
A group of symptoms caused by abnormalities in motor or sensory nerves. Symptoms include tingling or numbness in hands or feet followed by gradual, progressive muscular weakness.
Porphyria (Porphyrias)
Any of several usually hereditary abnormalities of porphyrin metabolism characterized by excretion of excess porphyrins in the urine. Porphyrias are relatively rare disorders and can be classified based on the principal site of expression of enzymatic defect in heme synthesis.
Seizure (Seizures)
While there are over 40 types of seizure, most are classed as either partial seizures which occur when the excessive electrical activity in the brain is limited to one area or generalized seizures which occur when the excessive electrical activity in the brain encompasses the entire organ. Although there is a wide range of signs, they mainly include such things as falling to the ground; muscle stiffening; jerking and twitching; loss of consciousness; an empty stare; rapid chewing/blinking/breathing. Usually lasting from between a couple of seconds and several minutes, recovery may be immediate or take up to several days.
Syndrome
A medical condition characterized by a collection of related symptoms (what the patient feels) and signs (what a doctor can observe or measure).
Tachycardia
Excessively rapid heart rate.
Zinc
An essential trace mineral. The functions of zinc are enzymatic. There are over 70 metalloenzymes known to require zinc for their functions. The main biochemicals in which zinc has been found to be necessary include: enzymes and enzymatic function, protein synthesis and carbohydrate metabolism. Zinc is a constituent of insulin and male reproductive fluid. Zinc is necessary for the proper metabolism of alcohol, to get rid of the lactic acid that builds up in working muscles and to transfer it to the lungs. Zinc is involved in the health of the immune system, assists vitamin A utilization and is involved in the formation of bone and teeth.
Last updated: Nov 08, 2009
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