Porphyrie

Porphyria is a rare inherited group of disorders that affects the body's ability to convert porphyrins to heme in a normal manner.

votre guide rapide de cette page

what is porphyhria?

Porphyhria is a rare hereditary disease which results in the abnormal metabolization of hemoglobin. Because of this, porphyrins are excreted in the urine and stool in excessive amounts. When present in very high levels, they cause the urine to have a distinct port wine colour.

What is hemoglobin?

Hemoglobin is a protein rich in iron essential to carry oxygen from the lungs to the rest of the body and remove carbon dioxide.

en bref

  • Porphyhria is more common is females than males.
  • Porphyhria symptoms often begin between the ages of 15 and 45.
  •  Porphyrias are commonly two categories, “acute“ and “cutaneous” porphyrias, which is determined by a patient’s primary symptoms.

symptômes

The symptoms of porphyria fall into two major groups.  Some patients have attacks in which the nerves of the body do not function properly and this results in abdominal pain and weakness.  Other patients have problems with the parts of the skin that are exposed to the sun including pain and swelling of the skin or the formation of blisters.

acute porphyrias

  • Paralysis
  • Muscle pain
  • Disorientation and hallucinations
  • Bloody (red) urine
  • Hypertension
  • Seizures
  • Vomiting, constipation, and abdominal pain

cutaneous porphyrias

  • Skin complications (red, itchy, painful blisters)
  • bloody (red) urine

l'impact du mode de vie

Porphyrias can cause patients to experience unpredictable attacks making it hard to live a normal life. Patients my experience seizures, high blood pressure, difficulties breathing, and extreme dehydration which may require them to stay in the hospital for treatment. Long-term damage to the liver and kidney can result from repeated acute attacks which may cause additional lifestyle impacts.

que puis-je faire ?

la prévention

Porphyria cannot be prevented as it is a genetic condition. Avoiding certain triggers such as smoking, alcohol consumption, and sunlight may help to prevent symptoms associated with porphyria.

diagnostic

Proper diagnosis of porphyria depends on chemical tests of the blood, urine and stool. Since porphyria is a genetic disease, tests should also be done on children and blood relatives of affected individuals.

traitement

There currently is no cure for this disease so treatments are targeted towards managing symptoms of acute forms of porphyria. These treatments include:

  • Analgesics (e.g. opiates, aspirin) for pain
  • Cardiovascular drugs (beta blockers) for high blood pressure or heart dysrhythmias
  • Drugs to reduce anxiety (e.g. lorazepam)
  • Antiemetic drugs (e.g. promazine, chlorpromazine) to prevent vomiting
  • Anticonvulsants (e.g. diazepam, clonazepam) for convulsions
  • Phlebotomies (bloodletting) for iron overload
  • Adequate intake of calories to reduce the intensity of acute attacks.

In rare severe cases, patients with porphyria may require a greffe de foie depending on their level of liver damage.

ressources supplémentaires

Voici quelques questions à poser à votre médecin ou à l'équipe médicale :

  • What is the status of my liver?
  • What treatments do you recommend to manage my symptoms?
  • What are the side effects of this treatment method?
  • Will I require a liver transplant?