Acute, Intermittent Porphoria

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.

Symptoms and Signs

Cardinal symptoms of the porphyrias include photosensitivity, abdominal pain and neurologic disturbances.

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

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.

Diagnosis

Let’s deal with the acute attack first, because this is the most important situation where the diagnosis must be right and must be made fast. If you have acute porphyria, your urine will always contain increased amounts of aminolevulinic acid and porphobilinogen – you will have a positive “watsom-Schwartz” test. If it is suspected that you have abdominal pain or some other symptom due to acute porphyria, this test must be positive. If porphobilinogen cannot be measured in the hospital where you are, either the test must be run immediately somewhere else, or you should be transferred to a different hospital. If the porphobilinogen test is negative, some other cause for the symptoms must be sought. Further, the severity of the acute attack can be followed by observing daily porphobilinogen levels in urine.

When you are not having an attack, AIP is not diagnosed as easily. A 24 hour urine collection can be tested for aminolevulinic acid and porphobilinogen, but if normal levels are obtained, this does not exclude the possibility that you carry the gene for the condition. However, a positive test makes it likely that you do carry the gene for AIP, provided a test of your stool for porphyrins is not adnormal.

A second test can be performed on your blood. This tests for something called “porphobilinogen deaminase” (also called “uroporphyrinogen synthase”) and about 90% of patients with the gene for AIP show a reduced level of this. This is called an enzyme test and is only available in a few specialized laboratories. The frequency of false positives and false negatives is rather high and by itself the test is imperfect. However, it is the only test available to test children before puberty.

 


Signs, symptoms & indicators of Acute, Intermittent Porphoria

Symptoms - Food - General  

Weak appetite



Symptoms - Gas-Int - General  

(Severe) abdominal discomfort



Symptoms - Metabolic  

Having a slight/having a moderate/having a high fever



Symptoms - Muscular  

Individual weak muscles



Symptoms - Urinary  

Dark urine color




Conditions that suggest Acute, Intermittent Porphoria

Circulation  


Digestion  


 


 


Lab Values  


Mental  

Schizophrenia

A review of 2500 psychiatric patients showed a 1.5% occurrence of porphyria. 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, 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.



Uro-Genital  


 



Acute, Intermittent Porphoria can lead to

Circulation  


Digestion  


 



Recommendations 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.



Diet  

Alcohol Avoidance

Alcohol consumption is a common precipitant of AIP.



 

Therapeutic Fasting

There is some evidence that starvation is particularly bad for patients with AIP and you should avoid going without food for more than 12 hours if possible, particularly, you should avoid diets which involve stringent reductions in food intake or fasting.



Drug  

Conventional Drugs / Information

Medications and drugs are often the worst triggers. The following drugs can percipitate an attack of AIP and should be AVOIDED:



Key

Weak or unproven link
Strong or generally accepted link
Proven definite or direct link
May do some good
Likely to help
Highly recommended
Avoid absolutely

Glossary

Acute

An illness or symptom of sudden onset, which generally has a short duration.

Porphyria

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.

Gastrointestinal

Pertaining to the stomach, small and large intestines, colon, rectum, liver, pancreas, and gallbladder.

Nausea

Symptoms resulting from an inclination to vomit.

Constipation

Difficult, incomplete, or infrequent evacuation of dry, hardened feces from the bowels.

Diarrhea

Excessive discharge of contents of bowel.

Ileus

Bowel obstruction.

Dysuria

Painful urination.

Tachycardia

Excessively rapid heart rate.

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.

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.

Distal

Anatomically located further away from a point of reference, such as an origin or a point of attachment.

Seizure

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.

Hormones

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.

Enzymes

Specific protein catalysts produced by the cells that are crucial in chemical reactions and in building up or synthesizing most compounds in the body. Each enzyme performs a specific function without itself being consumed. For example, the digestive enzyme amylase acts on carbohydrates in foods to break them down.

Acne

A chronic skin disorder due to inflammation of hair follicles and sebaceous glands (secretion glands in the skin).

Metabolism

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.

Hallucination

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.

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