Porphyria

Porphyria: acute hepatic porphyria

Acute intermittent hepatic porphyria is the most common and common type of porphyria.

Like other porphyria, acute hepatic porphyria is due to a deficiency of one of the enzymes of the biosynthesis of heme (PBG deaminase). This deficit is mainly expressed in the liver and is responsible for the accumulation of precursors of porphyrins ALA and PBG.

This accumulation is damaging to the nervous system and causes acute attacks with very intense abdominal pain, in the form of colitis for several days,

Sometimes neuropsychiatric disorders can also be a real medical emergency.

Symptoms of acute hepatic porphyria

  • Abdominal pain often radiates to the lumbar region and to the thighs.
  • You suffer from nausea and / or vomiting, constipation and fatigue.
  • You can also suffer from confusion, muscle weakness or even paralysis. Convulsions are possible.
  • The pulse is faster. The higher blood pressure.
  • The urine, exposed to light, turns out to be more colorful (pinkish or even red-colored).


Risk factors

Porphyria attacks can be triggered by:

  • certain medications that are contraindicated,
  • the hormonal cycle in women,
  • prolonged fasting or a slimming diet,
  • an infection, like a flu ...
  • the stress,
  • an emotional shock ...

Then, it should be noted that acute attacks occur most often after puberty and more often in women because of the cycle.

Finally, as in many "dominant" genetic diseases, there are more "healthy carriers" than patients, hence the importance of screening carriers of the gene mutated in the family of a patient.

How to avoid crises?

Once the disease is diagnosed, regular medical follow-up is very important. You must always keep in touch with your general practitioner and the Porphyry Reference Center, which alone knows your illness.

In case of severe abdominal pain, pain in the muscles, convulsions, discomfort, immediately call the Reference Center and possibly the 15, for emergency care.

Inform around you: let all those around you, professional, academic, medical (pharmacist, dentist, gynecologist, nurse ...) know that you have porphyria by knowing which one by its precise name. This will, if necessary, prevent emergencies.

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Read also :

> Blood in the urine: what to do?
> All about autoimmune diseases

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