Porphyria

Porphyrias are rare disorders caused by a deficient production of haem, an essential molecule for the transport of oxygen (via the haemoglobin) and the elimination of medicines (via the cytochromes). Depending on the type of porphyria these diseases result in abdominal pain,  neurological disorders and/or skin problems. Some crises can be triggered by certain medicines, fasting, alcohol or an infection. In most cases porphyrias are hereditary diseases that develop during adulthood. Some of the skin problems can become apparent during childhood while others can be secondary to other health problems. The diagnosis is established by blood, urine and genetic tests.

Treatment of porphyria depends on the type of porphyria. 

Acute porphyrias require a multidisciplinary approach based on prevention and the treatment of acute attacks. Haem is administered via a central venous catheter in acute situations.  Pain management sometimes requires the administration of powerful analgesics. Neurological disorders can require specific care.  

Prevention consists principally of  eliminating trigger factors such as certain medicines (especially the contraceptive pill) and alcohol.  

Certain severe forms may require a liver transplant.  Recently, a new treatment with Givosiran has made it possible, under certain specific conditions, to improve the quality of life of patients who suffer recurring acute attacks of porphyria. This can only be prescribed following an initial assessment at one of the 2 reference centres in Belgium, one of which is at the Brussels University Hospital (H.U.B) and the other at UZ Leuven university hospital. 

When the porphyria takes the form of a skin complaint, treatment can be by bleedletting, medicines and/or protection against the sun.  

In the long term, porphyrias  can be accompanied by complications such as high blood pressure, chronic kidney disease or liver problems.

Regular follow-up with a specialist is therefore essential to prevent acute attacks and to identify complications related to the disease.

The Hematology Department of the Brussels University Hospital (H.U.B) and the Medical Chemistry Department of LHUB-ULB together form the Belgian Porphyria Centre, which is one of the 16 expert clinical centers for porphyrias (PECC). In Belgium, it is one of the two centers authorized to initiate treatment with Givosiran.

The Medical Chemistry Department is one of the specialized centers in the international network dedicated to porphyria, IPNET. It also holds recognition as a National Reference Center for Rare Diseases for certain analyses related to porphyrias.

• Prof. Frédéric Cotton - Head of Medical Chemistry Department - Laboratoire Hospitalier Universitaire de Bruxelles (LHUB-ULB).
• Prof. Fleur Wolff - Head of Hormonology Clinic -  Laboratoire Hospitalier Universitaire de Bruxelles (LHUB-ULB).
• Ph.Biol. David Fage - Medical Director - Special Biochemistry -  Laboratoire Hospitalier Universitaire de Bruxelles (LHUB-ULB).