Purple Canaries

Joyce Gould with Jill Gould

AIP 101


      The name porphyria (said “poor-fear-ee-ya”) is derived from the Greek word for purple. It is the umbrella name given to a group of eight different genetic diseases where, for each type, an impaired gene results in deficiencies of certain proteins (enzymes) necessary for producing the red pigment in blood called heme.  

      Porphyrias are identified as either acute (neurological), cutaneous (skin) or a combination (acute/skin) type, based on presenting symptoms. 

      The condition is particularly confounding since the patient often appears to be fine (i.e. “normal”) between attacks. AIP manifests because the inherited mutated gene, HMBS (aka PBGD) creates an enzyme deficiency in the liver’s blood-making process if/when a cellular demand for heme is increased which makes it unable to keep up with the blood-making rate and can give way to an excess of blood precursors (ALA-aminolaevulinic acid and PBG-porphobilinogen). In the majority of AIPorphyrics, these precursors are excreted from the body when in attack mode in the form of darkened (purple-hued) urine, hence the name porphyria.

      Simply having the impaired gene is not enough to cause AIP attacks – a catalyst is necessary to trigger symptoms. Also known as “precipitators,” these triggers include a long list of seemingly innocuous experiences and include: fasting (dieting or insufficient nutrition); stress (physical or mental); ingestion of certain medications (especially sulfa drugs, contraceptives, barbiturates, anesthetics, several types used to treat psychiatric disorders); infections; exposure to biocides, pesticides and chemical solvents such as those incorporated in cleaning products, paint, varnish; cannabis; cigarette smoking; components in alcohol, and hormonal fluctuations. Often, there is a combination of precipitating factors that contribute to attacks.

      It is said that AIP is more common in women than in men and that symptom onset is generally thought to occur in acute attack and include (often in rapid fashion) a variety of attacks occurring in the 20s or 30s. Once triggered, AIP can produce severe and debilitating conditions affecting the visceral, autonomic, peripheral and central nervous systems. Impact on these systems can produce an acute attack and include (often in rapid fashion) a variety of physical, neurological and psychiatric symptoms such as:

  •       Physical complaints, of which abdominal pain is the most common symptom. Such pain can be severe and seemingly out of proportion to the point where many porphyrics have lost an appendix, gall bladder, kidney or other internal organ to surgeons’ knives. Other physical complaints include nausea, vomiting, constipation or diarrhea, abdominal distention (sometimes excessive). Respiratory paralysis may begin with the simple inability to catch one’s breath. 
  •       Neurological complaints may include headache; visual disturbances; transient vision loss; muscle weakness; extreme, diffuse pain may continue to the limbs, chest, back and up to the shoulder blades; acute ataxia (fainting); seizures or convulsions; numbness or tingling: sensory loss. Autonomic concerns include hypertension (blood pressure fluctuations); tachycardia; intermittent fever, bulbar paralysis. Motor neuropathy may involve the cranial nerves, resulting in cranial nerve palsies. Paralysis of the hands and feet can suddenly occur; permanent quadriplegia may occur after a severe attack.
  •       The connection between psychiatric symptoms and AIP are well documented. Psychiatric findings include insomnia, agitation, hysteria, anxiety, irritability, confusion, delusions, hallucinations, apathy, depression, phobias, psychosis, organic disorders, delirium, somnolence and/or coma. Common presentation involves brief psychiatric episodes, often indistinguishable from schizophrenia or bipolar disorder.

Recovery from acute attacks can occur within days but recovery from severe attacks that are not promptly treated may take weeks or months. Death may occur in acute attack from paralysis of respiratory muscles or cardiovascular failure from electrolyte imbalance. Therefore, “the importance of avoiding exposure to triggering factors” in order to evade AIP attacks cannot be emphasized enough. While the disease is complex, glucose (sugar) taken at the onset of symptoms can often halt an attack, particularly if the attack is a mild one. IV dextrose infusion has proven to be a beneficial treatment for moderate attacks. Severe attacks require intravenous administration of Panhematin® a human blood product. 

Notable people said to have suffered from AIP include King George III, Mary Queen of Scots, Vincent van Gogh and King Nebuchadnezzar of Babylon. In more recent times, Paula Frias Allende, daughter of internationally acclaimed novelist Isabel Allende fell into a porphyria-induced coma in 1991 and succumbed to the disease in 1992.

As with many chronic disorders, AIP tends to be an isolating condition. While the extent varies between individuals, it is not unusual for social and psychological ramifications associated with living with AIP to be disturbingly unsettling. Relationships (work, social, personal) can founder under the pressure of so many potential triggering agents and reactive systems. Physicians knowledgeable of and/or interested in the porphyrias are few and far between. And, in spite of decades of porphyria support groups’ actions throughout the world to increase awareness of the various types of porphyrias, familiarity with even the names, never mind diagnoses, management and treatment options, remains woefully inadequate.

For more information please check sources: Porphyria in Sweden,  Porphyria: Reexamination of Psychiatric Implications and Acute Intermittent Porphyria.