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What is 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 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. Our specialists Need some medical advice?Dr. Tom AbrassartHématologistSpecialized in porphyria Make an appointment Focus 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. Discover our Hematology Department Associate doctors 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).

Image Access and parking Here you will find full details concerning addresses, access, car parks, signposting and PRM facilities Image Consultations and Hospitalisation All you need to know Image Day hospital The Day Hospital welcomes patients for surgery and provides treatment for pain relief. Image Blood tests Do you need to have a blood test? Find all the information you need here. Image Rendez-vous non annulés Vous pouvez annuler sans frais jusqu’à 24 heures avant l’heure prévue de votre rendez-vous Image Partage de données et accès à mon dossier Si vous souhaitez partager vos données médicales et accéder à votre dossier Address Hôpital Erasme Route de Lennik 808 1070 Bruxelles Belgium Phone +32 2 555 3111 Email contact@erasme.ulb.ac.be Schedule Ouvert 24 heures GPS coordinates 50.814404685823845 4.265633421008964 Image Useful links Mediation and patients' rights Social services department Moral, religious or philosophical assistance Shops / cafés Wifi Volunteers Financial conditions International patient

What is preimplantation genetic diagnosis? Preimplantation genetic diagnosis (PGD or PGT) is a technique used to detect genetic abnormalities in an embryo created in vitro before implantation in the uterus. Earlier and less invasive than prenatal genetic testing, it offers couples carrying serious genetic disorders a significantly higher chance of having a child free from the targeted condition.PGD has been available at Erasmus Hospital since 1999 for chromosomal abnormalities and since 2004 for monogenic diseases. Aneuploidy screening, or PGT-A (Preimplantation Genetic Testing for Aneuploidies), may also be offered to couples with a poor reproductive prognosis, as they are at increased risk of embryonic chromosomal abnormalities. This technique provides a complete molecular karyotype of the embryo, allowing the exclusion of abnormal, non-viable embryos and reducing time to pregnancy in this specific patient group.PGD allows embryo selection based on:Chromosomal content, including number and structure (balanced translocations, para- and pericentric inversions, deletions, duplications, or poor reproductive prognosis);Absence of abnormal genes, in carriers or patients affected by monogenic disorders such as cystic fibrosis, sickle cell disease, muscular dystrophies, Huntington’s disease, polycystic kidney disease, or mutations predisposing to certain cancers (BRCA1, BRCA2, etc.);Embryo sex, in cases of X-linked diseases, with optional direct analysis of the X-chromosome mutation. Medical services AssessmentEach PGD request is reviewed during a multidisciplinary meeting involving gynecologists, geneticists, biologists, and psychologists. If approved and no technical development is required, an IVF-PGD cycle can be scheduled.For very small chromosomal abnormalities and all monogenic diseases, prior technical development is mandatory. Blood samples from the couple and sometimes close relatives are required. This step is essential to ensure reliable PGD analysis. Development time ranges from 1–3 months for common indications to 9 months or more for complex or rare cases.In Vitro Fertilization (IVF)To maximize the chances of transferable embryos, an adequate number of oocytes is required, obtained through controlled ovarian hyperstimulation. Fertilization occurs in the Assisted Reproduction Laboratory using partner or donor sperm, followed by in vitro culture until biopsy.Biopsy is usually performed on day 5–7 (blastocyst stage). In rare cases requiring FISH, biopsy is done on day 3 (cleavage stage). One cell (cleavage) or 5–10 cells (blastocyst) are removed for genetic analysis.Cleavage-stage embryos remain in culture for potential fresh transfer on day 5. Blastocyst-stage embryos are cryopreserved while awaiting genetic results (maximum 6 weeks), and transfer is scheduled later.Genetic analysis techniquesPCR: DNA amplification for monogenic diseasesCGH-array (aCGH): full molecular karyotypingFISH: fluorescent in situ hybridization for rare small abnormalitiesSNP-array: genome-wide allele polymorphism detectionEmbryo transferOnly genetically unaffected embryos are transferred:Fresh transfer on day 5 after cleavage-stage biopsyFrozen-thawed transfer after blastocyst biopsy Advice Appointments and information:📞 +32 (0)2 555 64 32📧 DPI [dot] FIV [at] hubruxelles [dot] bePlease bring a complete medical file to your consultation. Focus PGD can also be used to:Detect cancer predisposition mutationsDetect late-onset disorders (e.g. Alzheimer’s disease)Exclude embryos without parental presymptomatic testingSelect HLA-compatible embryos for stem-cell transplantationPGD has been successfully applied to hundreds of genetic disorders. Success depends on maternal age, number of oocytes/embryos, disease type, and diagnostic efficiency. Additional IVF cycles may be required in some cases. Research The next technological objective is Next-Generation Sequencing (NGS), allowing rapid, direct mutation detection without family studies, particularly useful for multiple genes or de-novo mutations. Our specialists PGD success relies on experience and teamwork. Our team has used this technology effectively for 25 years.Fertility Clinic – MAR (Medically Assisted Reproduction)Pr. Anne DELBAEREPr. Fabienne DEVREKERDr. Isabelle DUPONDDr. Asma SASSIPGD Coordinator: Mme Chantal Deleau : +32 (0)2 555 64 32, mail : DPI [dot] FIV [at] hubruxelles [dot] be (DPI[dot]FIV[at]hubruxelles[dot]be) Technical Coordinator: Mr Eric Gonzalez-MerinoDepartment of GeneticsClinical Geneticists:Pr. Guillaume SMITSPr. Isabelle VANDERNOOTDr. Sandra COPPENSSenior Genetics Staff:Adeline BUSSON  Marie-Laure GRENET  Marie BRUNEAUAlice LE MORILLON 

We suggest you to pack certain items: Pyjamas and nightshirts Dressing gown Comfortable, non-slip shoes (slippers)  Underwear Necessary toiletries (toothbrush, toothpaste, razor, soap, comb, hair brush, towel, face flannel)   Any medicine you take regularly, in original packaging (or at least the list). We ask you to make a list of all the medicine you take, with or without prescription, whether daily or occasionally. Also make a list of medicines to which you are allergic or that disagree with you. You can give these lists to the nurses at the time of being admitted to the unit.  A thermometer issued at the time of a previous hospitalisation. If you don't have one, you will be issued with one – which you can take with you when you leave – and for which you will be invoiced.  Your support stockings or body band if requested by the doctor. Also remember to pack some books, newspapers, laptop, PC, charger, etc.  If you wear glasses or contact lenses, dentures or a hearing aid, please deposit them in the case or other recipient provided.  The day before your surgery, please remember to: Take an antiseptic shower / shampooing (if recommended) Remove any nail varnish and false nails, in gel or resin, from your hands and feet Cut and file your nails Remove any make-up, false eyelashes, jewellery, piercing Do not eat, drink or smoke after midnight!!   Please follow strictly the instructions of your anaesthetist regarding any medicines that you should or should not take on the day itself or the previous day.  Preparing your belongings before hospitalisation to make your stay as comfortable as possible

The Erasmus Hospital Communication Department is at the disposal of the media for any request for interviews, reports or photographs. We will be pleased to direct you to the specialist best able to answer your questions.  Director of Communication Frédérique Meeus frederique.meeus@hubruxelles.be +32 2 555 84 30 +32 499 54 05 16 Media Officer Louis Dijon louis.dijon@hubruxelles.be +32 478 83 06 49 Press releases The hospital and YOU : Your hospital’s magazine Whether you are a patient, relative of a patient, future patient or visitor, we invite you to discover the H.U.B’s new magazine:  “The hospital and YOU”. Packed with information and news on our care and care staff, our fields of expertise and innovations! Your health is at the centre of our concerns.  Discover all the issues here and keep up to date on all that is happening at the H.U.B! File hub_decembre_2023.pdf