Acute porphyrias

"Patients with acute porphyrias who suffer frequent attacks have a reduced quality of life and require frequent hospital admissions for the treatment of their symptoms".


The acute porphyrias are a group of rare hereditary transmission diseases that produce defects in the function of some proteins involved in the metabolism of an important substance produced in the liver, called heme.

The inability to produce adequate amounts of heme results in the accumulation of intermediate substances called porphyrins and some precursors such as delta aminolevulinic acid (ALA) and porphobilinogen (PBG).

The accumulation of these substances in body fluids, gives the urine a characteristic red color, which gives the name to this disease (in Greek porphura means purple pigment). There are four types of acute porphyrias, acute intermittent porphyria, the most common form, variegated porphyria, hereditary corpophorphyria and ALA dehydration deficiency (also called plumbophorphyria).

It is estimated that in Europe, except in Sweden, 1 person in 15,000 carries the mutation responsible for acute intermittent porphyria, but only 10-20% of mutation carriers have symptoms, as it is a genetic disease with incomplete penetrance. In Sweden about 1 person per 1000 is a carrier of the mutation.

What are the symptoms of acute porphyria?

Patients with acute porphyria suffer from attacks characterized by very intense pain, most commonly abdominal pain, which is accompanied or lessened by other symptoms, such as agitation, mental confusion, convulsions, muscle weakness, nausea, vomiting, constipation, hypertensive crises, and increased heart rate.

In addition, patients with variegated porphyria and hereditary coproprophyria may have skin symptoms triggered by exposure to sunlight (photosensitivity).

Due to the rarity of this disease and the non-specificity of its symptoms, it is very common for patients to delay being diagnosed, even years after having the first attack.

Very frequently the attacks are triggered by some factors, such as the taking of certain medications, dietary factors, such as fasting or alcohol intake, psychophysical stress, infections and hormonal fluctuations.

Most common symptoms:

  • Intense abdominal pain.
  • Agitation, mental confusion.
  • Convulsions.
  • Muscle weakness.
  • Nausea and vomiting.
  • Constipation.
  • Hypertensive crises.
  • Increased heart rate.

Do you have any of these symptoms?

You may have an acute porphyria

How is acute porphyria diagnosed?

<p>Imagen Laboratorio de Bioquimica&nbsp;</p>

For the diagnosis of porphyrias it is necessary to perform some tests in the urine and blood. Genetic confirmation is easily done by a blood test.

In the Clinic all the tests for the diagnosis of porphyrias are performed, including the genetic diagnosis of this disease.

How is acute porphyria treated?

Treatment of acute porphyria is only symptomatic and so far the only strategy available to cure the disease definitively is liver transplantation.

Mild acute attacks can be treated with analgesic drugs of different levels and ensuring an adequate intake of carbohydrates (sugars), since these can contribute to reduce the accumulation of precursors due to their inhibitory effect on the activity of the first of the enzymes of the heme production chain.

More intense attacks are treated by administering heme, a medication that is given intravenously, usually on an inpatient basis.

In addition to standard treatment with heme, the Clinic, together with other centers around the world, is participating in a phase 3 clinical trial for the treatment of this disease with a drug called Givosiran.

Where do we treat it?


The Hepatology Unit
of the Clínica Universidad de Navarra

We are pioneers in the application of gene therapy in the treatment of liver tumors and hereditary metabolic diseases, and we have extensive experience in the diagnosis and treatment of viral hepatitis and in the treatment of liver cancer using radioembolization systems with Ytrium-90 microspheres. 

The Clinic is at the forefront in Spain in performing liver transplantation between living people.

Treatments we perform

Imagen de la fachada de consultas de la sede en Pamplona de la Clínica Universidad de Navarra

Why at the Clinica?

  • Highly specialized team of professionals with more than 25 years of experience.
  • Nursing team specialized in hepatic patients.
  • Important research activity on the molecular mechanisms that cause some of these diseases.