Hepatic Porphyria

In hepatic heme synthesis, it is delta-aminolevulinate synthase 1 (ALAS1), a hepatic and ubiquitous enzyme, 

In the liver, the pathway is regulated by the end product heme via a negative feedback mechanism,

 

A person could have a porphyria attack at any age, however there is more documentation for attacks that occur in women and after puberty. Attacks can be short in duration or prolonged 

 

The typical history of someone with hepatic porphyria is having multiple diagnoses and being referred to a psychologist or put in a mental hospital​. Neuropathy is the primary symptom of hepatic porphyria. Neuropathic pain can be severe in this particular type of porphyria. 

 

Documented precipitating factors are certain drugs, alcohol, smoking, hormones, a low-carbohydrate diet, stress, and certain environmental toxins

Hepatic porphyria symptoms develop when ALAS1 in elevated.

Hospitalization is often necessary for acute attacks. Initial treatment of acute attacks consists of stopping harmful drugs the patient may be taking and providing a high intake of carbohydrate of 300 grams or more per day. Carbohydrate can be given either in the form of an oral carbohydrate or by intravenous infusion. Intravenous infusion is better in moderate or severe attacks or for patients who are unable to ingest enough carbohydrate orally. Pain and anxiety should be treated with safe drugs. Attacks with muscle weakness occasionally require respiratory support, but this is unusual unless an attack is brought on by prolonged administration of harmful drugs. After recovering from an attack, a patient should continue to eat regularly, because there is good evidence that skipping meals or fasting is harmful.

  1. Avoid harmful drugs, smoking, alcohol, hormones, and fasting. Make sure you and your physician review your medications for safety before you take them. Both of you should feel free to consult one of the porphyria drug database for this purpose since information about drugs and Porphyria is difficult to find.

  2. Inform all of your physicians that you have acute porphyria. You should know whether your urine is usually positive for PBG, many patients with HCP and VP are documented in research papers as having negative PBG tests in serious life endangering attacks. Many physicians are not familiar with Porphyria, thus, it is helpful for patients with an acute Porphyria to carry information about themselves. Some patients create a hospital book like a 3 ring binder with their test results and treatment guidelines that they keep with them in their car A Medic Alert card and bracelet or necklace are also recommended for those who are susceptible to AIP attacks. In case unexpected emergencies occur, they could prevent harmful drugs from being administered.

  3. Review requirements for surgery with your physician before the procedure. Surgery should be done without barbiturate anesthesia. The anesthetic gases are probably safe in AIP. Since major surgery interferes with nutrition, at least 300 grams of glucose should be infused intravenously during surgery and on a daily basis for a period of time thereafter.

  4. Check urine periodically for PBG, particularly in children at the time of puberty. If the urine does become positive for PBG, most individuals still remain asymptomatic. However, since AIP symptoms are almost always associated with high PBG output, it is useful to have such information for future reference.

  5. Contact Porphyria specialists or medical centers that have expertise in Porphyria in case unforeseen questions arise concerning drugs, treatments and other matters.

  6. Be your own best advocate by educating yourself about Porphyria. Challenge your health care providers to also become very knowledgeable. It is essential to transfer from any health care providers who refuse to acknowledge the importance of this disease.

  7. Seek medical attention immediately when you feel ill with anything other than ordinary illnesses.

     

A majority of those with the inherited enzyme deficiency experience an attack at some point in their lifetime. (age and gender paper).

Aminolevulinic acid dehydratase deficiency porphyria (ADP), acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP).