Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
Hôpitaux Universitaires Paris Nord Val de Seine (HUPNVS), Hôpital Louis‐Mourier
Paris Nord Val de Seine, FRANCE
‐ The area of expertise of the center is Porphyrias that are disorders due defects in Heme pathway.
CNMR porphyria belongs to HUPNVS hospital (5 hospitals in the north of Paris and surrounding including Louis‐Mourrier hospital, LM)
‐ The center is located in LM hospital and offers a direct comprehensive and integrative care of patients in Ile de France from the clinical, biological and molecular diagnostic to a highly specialized management based on collaborative approach. The center offers in Louis Mourier hospital a large range of specialized consultations and hospitalizations: Clinical genetics, Emergency and short hospitalization, HGE, internal medicine and the Gynecology & Obstetrics. Patients cares are supported daily with CRMR Porphyrias and are based on regular multidisciplinary meeting. Beyond medical treatment and follow up in LM CNMR porphyrias, the HCP offers surgery when necessary, including liver carcinological surgery, liver transplant and offer the access to bone marrow transplant either for adults or children in Saint‐Louis and Necker hospitals (in APHP but outside HUPNVS). Determination of optimal care is decided using a multidisciplinary approach.
‐ The CRMR Poprhyrias provides also remotely expert opinion to patients and their families, and to caregivers in France and outside France by way of teleconsultation and e‐mails (about 2500 requests a year).
‐ The continuity of care is ensured by a 24/7 on‐call medical services for clinical and biological expertise on porphyria in France.
‐ The diagnosis of porphyrias is made by the center thanks to its expertise in highly specialized biochemical and molecular testing.
‐ The center is closely linked to the research unit. This collaboration has allowed recognition of enzymes and genes responsible for porphyrias, to decipher the pathophysiology of porphyrias and to develop new treatments. Clinical research is also persured for new treatments in erythropoietic and hepatic porphyrias in international clinical trials.
‐ The center is collaborating with other centers in Europe thanks the EPNET network (32 members in 21 countries).
The overall aim of EPNET is to develop a common approach to the diagnosis and clinical management of the porphyrias throughout the EU by developing supports in their own languages for patients, their families and healthcare professionals (http://porphyria.eu/fr; http://www.drugs‐porphyria.org/). EPNET provides also epidemiological data on acute porphyrias to Public Health National and EU Authorities.
‐ The center is taking care of around 1000 patients every year directly or indirectly and has an active file of 1900 patients with HMBS mutations (600 patients; 1300 asymptomatic carriers), 1201 UROD (655 overt patients, 546 asymptomatic patients), 1000 PPOX (310 patients; 690 asymptomatic carriers), 329 CPOX (70 patients; 259), 42 UROIIIS.
A specific national database, BAMARA, is used to gather the data of all the patients evaluated.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
‐ Complete diagnosis and follow‐up of patients affected either by erythropoietic or hepatic porphyrias. Diagnostic and follow up take place directly in the center or in the different medical and surgery departments of Louis‐Mourier hospital working in link with the CRMR Porphyrias. Specific examinations concern:
Geneticist (family tree, family counseling, prenatal diagnosis…), Hepato‐gastro‐enterologist for hepatic survey for acute hepatic porphyrias, Porphyria cutanea tarda, and erythropoietic porphyrias.
Radiologist (liver imaging using ultrasound exam, MRI and/or CT‐scanner), Neurologist (when required for neurologic symptoms when present in patients) Dermatologist (when required)
Nurse (heme arginate infusion, phlebotomy) Psychologist (who may also propose specific follow‐up) Social worker who provides social care services.
‐ Information to patients, relatives and healthcare providers are available (http://www.porphyrie.net/; http://porphyria.eu/fr; http://www.drugs‐porphyria.org/).
‐ Molecular genetic screening using NGS: (ALAS2, CLPX, ALAD, HMBS, UROIIIS, UROD, CPOX, PPOX, FECH, HO1)
‐ Biochemical testing of all metabolites and enzymes activities linked to the heme pathway using various technology including mass spectrometry, HPLC, fluorimetry, spectrometry…
‐ Interventions in link with the CNMR Porphyrias:
Surgery: Liver surgery in case of hepatocellular carcinoma or in case of liver transplantation for liver failure (EPP/XLDP) or in AIP as a curative treatment.
Gynecology / obstetrics: delivery for women with acute porphyrias within an environment adapted to the disease.
Hematology: bone marrow transplant in Necker hospital (children) and Saint Louis Hospital (adults)
‐ Acute care in the setting of intensive care unit, either in medical reanimation, or neurological reanimation.
‐ Palliative care is possible in the hospital but has not been necessary for our patients until now. In contraste, patients are sometimes referred to the pain unit.