Table of contents

Posters

Thematic area: current and emerging therapies for porphyrias

• 04191 Inhibition of glycine transporter 1 reduces EPP phototoxicity in a mouse model of erythropoietic protoporphyria (EPP) (20 September, 2024)

  Yi Xiang, Yue Chen, Scott Reisman, Srikanth Venkatraman, Hua Yang, Brian MacDonald, Min Wu
• 04121 Afamelanotide for the treatment of cutaneous phototoxicity of erythropoietic protoporphyria: the Scottish experience (20 September, 2024)

  Robert S Dawe, Alastair Kerr, Marese O’Reilly, Ewan Eadie, Victoria A McGuire
• 04173 Methionine cycle, polyamine synthesis, and transsulfuration pathway in the liver of a novel AIP model in non-human primates and the effect of systemic mRNA therapy (20 September, 2024)

  Francesco Urigo, Daniel Jericó, Lei Jiang, Karol M Córdoba, Ana Sampedro, Juan Manuel Falcón, Diana Cabrera, Sebastiaan Martijn Van Liempd, Alfonso Martínez de la Cruz, Estíbaliz Alegre, Pedro Berraondo, Paolo GV Martini, Matías A Ávila, Antonio Fontanellas
• 04136 Fairness of funding decisions of innovative therapies for the porphyrias in England and Wales: comparison of the parameters for the calculation of quality-adjusted life years accepted by the National Institute for Health and Care Excellence (20 September, 2024)

  Jasmin Barman-Aksözen, Nicole Hentschel, Mårten Pettersson, Eva Schupp, Francesca Granata, Cornelia Dechant, Mehmet Hakan Aksözen, Rocco Falchetto
• 04158 Assessing disease impact and quality of life: insights from a patient support program for acute hepatic porphyria (20 September, 2024)

  Francesca Brambillasca, Paolo Ventura, Annamaria Porreca, Carlo Poci, Annalisa Crisetti, Antonina Giammanco, Matteo Marcacci
• 04171 Validation of anatomical and brain perfusion dynamics in AIP non-human primate model using non-invasive MRI, and assessment of efficacy with hPBGD mRNA therapy (20 September, 2024)

  Daniel Jericó, Leyre García-Ruiz, Verónica Aramendía-Vidaurreta, Lei Jiang, Karol M Córdoba, Maite Aznarez, Francesco Urigo, Ana Sampedro, Alberto Rico, Iñigo Insausti, Manuel Alegre, Azucena Aldaz, Carmen Unzu, Jose Luis Lanciego, María A Fernández-Seara, Paolo GV Martini, Matías A Ávila, Antonio Fontanellas
• 04167 Hemin treatment during attacks in argentinean patients with acute porphyrias (20 September, 2024)

  Viviana Alicia Melito, Laura Sabina Varela, María Del Carmen Martínez, Verónica Goñi, Claudio Orquera, Fernando Baccaro, Sergio Herrando, Guido Merlo, Diego Sánchez Gelós, María Pasman, Ana María Buzaleh, Lucía Tomassi, Victoria Estela Parera
• 04133 Paternal split-liver transplantation followed by haploidentical hematopoietic cell transplantation in an adult patient with protoporphyria-induced liver failure (20 September, 2024)

  Stölzel Ulrich, Jost Lasse, Daniel Seehofer, Egger-Heidrich Katharina, Scheuermann Uwe, Hölig Kristina, Stauch Thomas, Kunadt Desiree, Detlef Schuppan, Schetelig Johannes, Wohmann Nils, Bornhäuser Martin, Stölzel Friedrich
• 04103 Effect of Givosiran for hereditary coproporphyria: 2 cases report (20 September, 2024)

  Tomohide Adachi, Nobuaki Ozaki
• 04156 Recurrent acute intermittent porphyria attacks after normalization of porphobilinogen on givosiran prophylaxis (20 September, 2024)

  Akshata Moghe, Csilla K Hallberg, Ruksana Huda, Shalonda Turner, Rochelle Simmons, VM Sadagopa Ramanujam, Karl E Anderson
• 04157 Administration of hemin and time-related effects on ferritin in acute hepatic porphyria (20 September, 2024)

  Akshata Moghe, Garrett T Coleman, Csilla K Hallberg, Ruksana Huda, Shalonda Turner, Rochelle Simmons, VM Sadagopa Ramanujam, Karl E Anderson
• 04153 Clinical and biochemical evolution of eight acute hepatic porphyria patients under givosiran treatment (20 September, 2024)

  C Puente Fernández, I Solares, FJ Castelbón, I Liria Fernandez, S Diaz-Diaz, D Bellido, J Ros, PM Alcazar-Carmona, R Enríquez de Salamanca, A Fontanellas, M Morales-Conejo

Thematic area: diagnosis and care in porphyrias

• 04110 Porphyria registry padova – start up (20 September, 2024)

  Annamaria Nicolli, Mauro Alaibac, Cinzia Bertolin, Isabella Bortoletti, Alberto Gambalunga, Angelo Moretto, Fabiola Pasqualato, Leonardo Salviati, Paolo Simioni, Andrea Trevisan, Carlo Poci
• 04188 Hereditary coproporphyria with cerebral aneurysms: successful diagnosis and treatment with givosiran (20 September, 2024)

  Aurora del Mar Pérez Ys, Annalisa Crisetti, Maria Grazia Savino, Maria Nardella, Francesco Aucella, Claudio Carmine Guida, Filippo Aucella
• 04134 An unusual case of variegate porphyria with nerve enlargement, conduction block and idiopathic intracranial hypertension (20 September, 2024)

  Michelle Abdo Paiva, Andre Macedo Serafim Silva, Rodrigo de Holanda Mendonça, Ana Lucila Moreira, José Pedro Soares Baima, Nícolas Ruan dos Santos Cavalcante, Carlos Otto Heise, Edmar Zanoteli
• 04149 Three years later: how the previously defined visual threshold of the Hoesch test works (20 September, 2024)

  Galina Zemtsovskaja, Siim Iskül, Küllike Palk
• 04095 Hormonal treatments in acute hepatic porphyria (20 September, 2024)

  Gayle Ross
• 04243 Bridging the gap: enhancing patient engagement through accessible medical information in the porphyrias. a case study in erythropoietic protoporphyria (20 September, 2024)

  Anna Mann, Liz Allan, Kristen Wheeden, Amy Dickey, Cythnia Levy
• 04107 The EPP LIGHT Study: understanding the burden of erythropoietic protoporphyria (EPP) from the patient perspective (20 September, 2024)

  Hetanshi Naik, Kristen Wheeden, Susan D Mathias, Chelsea Norregaard, Hilary H Colwell, Melanie Chin, William Savage, Manisha Balwani
• 04100 Porphyria cutanea tarda in Scotland: underlying associations and treatment approaches (20 September, 2024)

  Chayada Chaiyabutr, Robert S Dawe, Sally H Ibbotson, Tara Clarke, Victoria A McGuire
• 04127 Menstrual cycle-dependent symptoms in patients with acute hepatic porphyria – Data from the German Porphyria Registry (PoReGer) (20 September, 2024)

  Mona Mainert, Lea Gerischer, Rajan Somasundaram, Sylvia Mechsner, Eva Diehl-Wiesenecker
• 04088 Variegate porphyria cases with faecal isocoproporphyrin – not dual porphyria (20 September, 2024)

  Gayle Ross, Joel Smith, Virginia Cronin
• 04169 The first cases of δ-Aminolevulinate dehydratase porphyria (ADP/Doss Porphyria) in Italy (20 September, 2024)

  Carlo Poci, Mauro Alaibac, Marta Balzarin, Cinzia Bertolin, Isabella Bortoletti, Alessandra Brugiolo, Federica Rachele Danti, Elena Di Pierro, Angelo Moretto, Fabiola Pasqualato, Leonardo Salviati, Paolo Simioni, Andrea Trevisan, Paolo Ventura, Anna Zanin, Annamaria Nicolli
• 04178 Dual porphyria: initial porphyria cutanea tarda in a patient with variegate porphyria (20 September, 2024)

  Marcelo Salazar, Akshata Moghe, Csilla K Hallberg, Ruksana Huda, Shalonda Turner, Rochelle Simmons, VM Sadagopa Ramanujam, Karl E Anderson
• 04135 Evaluating the impact of a family camp for erythropoietic protoporphyria (EPP) and other rare sun disorders (20 September, 2024)

  Kristen Wheeden, Craig Leppert, Liz Allan, Hetanshi Naik
• 04166 Understanding variegate porphyria in an hiv patient: a detailed case study (20 September, 2024)

  Laura Sabina Varela, Viviana Alicia Melito, Fabiana Alejandra Caballero, Marcelo Guolo, Verónica Goñi, Pablo Winitzky, Mariana Agosta, María Pasman, Ana María Buzaleh, Lucía Tomassi, Victoria Estela Parera
• 04165 Management of hereditary coproporphyria: a case report of a new pathogenic variant, highlighting the significance of hemin therapy and maintenance treatment compliance (20 September, 2024)

  Laura Sabina Varela, Viviana Alicia Melito, Ana María Buzaleh, Victoria Estela Parera, Elena Di Pierro
• 04084 A challenging diagnosis for a potentially fatal disease: 2 years of Portuguese experience in biochemical and molecular diagnosis of porphyrias (20 September, 2024)

  Filipa Ferreira, Célia Carmona, Célia Nogueira, Cristina Pereira, Altina Lopes, Laura Vilarinho
• 04139 Acquired congenital erythropoietic porphyria secondary to treatment for haematological malignancy (20 September, 2024)

  John Gilman, Amira Ibrahim, Saliha Haji, Liezel Griffin, Denise Darby
• 04091 Verification and implementation of chromsystems HPLC kit for urinary porphyrins at North Estonia medical centre (20 September, 2024)

  Siim Iskül
• 04120 Haematopoietic stem cell transplant for severe ‘doubly homozygous’ erythropoietic protoporphyria: early outcome (20 September, 2024)

  Robert S Dawe, Shahzya Chaudhury, Victoria A McGuire
• 04187 The genetic landscape of porphyria in Ireland (20 September, 2024)

  Sarah Savage, Micheál Mac Aogáin, Brendan Lawlor, Craig Maher, Niamh Stein, Aoife McConnon, Ruth Brennan, Nadia Brazil, Vivion EF Crowley
• 04184 ‘Cassandra curse’ or a modern ‘Sisyphus burden’? Recurrent attacks in a cohort of Brazilian patients with acute hepatic porphyrias (20 September, 2024)

  Amadeu Queiroz, Jacqueline Harouche Rodrigues Da Fonseca, Regina Albuquerque, Maria Da Penha Ananias Morita, Erica Coelho, Eduardo Estephan, Ieda Bussmann, Charles Marques Lourenco
• 04097 Whole exome diagnosis for clarifies the concomitant pathologies of a patient with Porphyria (20 September, 2024)

  Hada C Macher, Salvador García-Morillo, Jose Luis GarcíadeVeas-Silva, Ana Rodriguez-Rodriguez, Carmen Delgado-Pecellín
• 04193 The incidance of types of porphyria and their symptoms in Turkey (20 September, 2024)

  Gülbüz Sezgin, Yusuf Emirhan Erkan, Hüseyin Şimşek, Ecehan Uzun, Çağdaş Kaya, Ayli Heydari, Gizem Tatar
• 04195 Concomitant AIP and systemic lupus erythematosus (SLE) – coincidence or clinical association? (20 September, 2024)

  Mark W Sonderup, Sandy Mosenye, Peter Meissner, C Wendy Spearman
• 04125 Detection and quantification of labile intravascular heme in the presence of hemoglobin (20 September, 2024)

  Marie-T Hopp, Sonali M Vaidya, Karina M Grimmig, Xiaojing Yuan, Iqbal Hamza, Diana Imhof
• 04176 Rethinking acute intermittent porphyria nutritional guidelines: a new approach proposal (20 September, 2024)

  Isabel Palazón Cano, Manuel Palazón Cano
• 04196 Prevalence of acute hepatic porphyria in the French population: first results of the PrevPHA prospective study (20 September, 2024)

  Roland Jaussaud, Patrick Mercié, Laurent Alric, Ivan Bertchansky, Claire Douillard, Adrien Bigot, Esther Noel, Bernard Bonnotte, Arnaud Hot, Antoine Poulet, Boris Bienvenu, Camille Lepart, Patrice Cacoub
• 04123 Early, quick and accurate identification of acute porphyrias in health centers: PBG reagent (20 September, 2024)

  María del Carmen Martínez, Viviana Alicia Melito, Fabiana Alejandra Caballero, Marcelo Guolo, Juan Bautista Lucero, Walter Schlender, Victoria Estela Parera, Ana María Buzaleh
• 04151 Erythropoietic protoporphyria: explaining the North-South gap (20 September, 2024)

  Javier de la Iglesia-Martin, Franscisco Javier Castelbon, Jordi To-Figueras, Rafael Enríquez de Salamanca, Celia Badenas, Cristina Puente Fernandez, Paula Aguilera Peiro
• 04140 Drugs stimulating erythroid compartment can induce hepatic damage in erythropoietic protoporphyria (20 September, 2024)

  Giovanna Graziadei, Valeria Di Stefano, Bruno Fattizzo, Marta Bortolotti, Valentina Brancaleoni, Francesca Granata, Silvia Fustinoni, Elena Di Pierro
• 04141 Investigation for porphyria in Denmark (20 September, 2024)

  Anne Lindegaard Christiansen, Henrik Lorentzen, Palle B Nielsen Fruekilde, Jan Frystyk
• 04163 Functional characterization of new pathogenic and lead-poisoning predisposing variants in ALA Dehydratase Porphyria (ADP) (20 September, 2024)

  Francisco Javier Castelbón, Elena Di Pierro, Isabel Solares, Daniel Jericó, Javier Tomás Solera, Antoni Riera-Mestre, María Barreda, Annamaria Nicolli, Rafael Enríquez de Salamanca, Carlo Poci, Marta Gloria Fanlo-Maresma, Matías A Ávila, Matteo Marcacci, Pauline Harper, Encarna Guillén-Navarro, Giovanna Graziadei, Bodo Beck, Paolo Ventura, Montserrat Morales-Conejo, Antonio Fontanellas
• 04126 Fatigue in patients with porphyrias – first data from the German Porphyria Registry (PoReGer) (20 September, 2024)

  Lea Gerischer, Perau Said, Nils Wohmann, Ilja Kubisch, Mona Mainert, Ulrich Stölzel, Rajan Somasundaram, Andreas Meisel, Eva Diehl-Wiesenecker
• 04143 A real-life overview of diet patterns and acute hepatic porphyria (20 September, 2024)

  Lucienne Oettel, Ilja Kubisch, Nils Wohmann, Romy Andrae, Jacqueline Uhle, Thaddäus Till Wissniowski, Ulrich Stölzel
• 04142 Sleep and stress in patients with acute intermittent porphyria (20 September, 2024)

  Lucienne Oettel, Ilja Kubisch, Nils Wohmann, Thaddäus Till Wissniowsk, Ulrich Stölzel
• 04145 Profound hypotonia in a newborn with Biallelic δ-Aminolevulinic Acid Dehydratase (ALAD) mutations (20 September, 2024)

  Alexis Roach, Hannah Barkley, Carissa Rodriquez, T Andrew Burrow, Karl E Anderson, Ankita Shukla
• 04130 Acute porphyrias as a prime example for (unrecognized) rare but treatable disease in the emergency department: a patient survey and systematized literature review (20 September, 2024)

  Sandra Pflock, Hannah Carolina Mücke, Rajan Somasundaram, Eva Diehl-Wiesenecker
• 04131 Increased pancreatic enzymes in a patient with acute intermittent porphyria (20 September, 2024)

  Valeria Di Stefano, Elena Di Pierro, Francesca Granata, Lorena Duca, Dario Tavazzi, Maria Domenica Cappellini, Giovanna Graziadei
• 04144 First report of clinically manifest variegate porphyria (VP) after maternal split liver transplantation in a one-year-old girl with idiopathic biliary atresia (20 September, 2024)

  Stölzel Ulrich, Knoppke Birgit, Melter Michael, von Eichborn Maria Isabel, Bonkovsky Herbert Lloyd, Stauch Thomas
• 04087 Acquired erythropoietic protoporphyria due to myelodysplastic syndrome (20 September, 2024)

  Gayle Ross
• 04093 Portal hypertension in advanced protoporphyric hepatopathy: a case report (20 September, 2024)

  Andrea Ricci, Dario Saltini, Camilla Mancini, Giada Di Betto, Stefano Marchini, Marcello Bianchini, Filippo Schepis, Antonello Pietrangelo, Elena Corradini, Paolo Ventura
• 04109 The impact of erythropoietic protoporphyria (EPP) on family quality of life (20 September, 2024)

  LL Griffin, R Sarkany, D Schulenburg-Brand, C Rowland, LE Rhodes, MD Farrar
• 04194 In-depth biochemical investigations in a new case of ALAD deficiency: better understanding for better treatment (20 September, 2024)

  Thibaud Lefebvre, Agathe Molimard, Tristan Mekdade, Caroline Schmitt, Jérôme Lamoril, Neila Talbi, Nathalie Dessendier, Antoine Poli, Andrea Araujo, Lorena Chappuis, Hervé Puy, Isabelle Desguerre, Laurent Gouya

Thematic area: heme synthesis and regulation

• 04185 The good, the bad and the ugly: glucose, insulin and heme deficiency – impairment of glucose metabolism in patients with acute hepatic porphyrias presenting with recurrent attacks (20 September, 2024)

  Amadeu Queiroz, Jacqueline Harouche Rodrigues Da Fonseca, Regina Albuquerque, Maria Da Penha Ananias Morita, Erica Coelho, Eduardo Estephan, Charles Marques Lourenco
• 04154 The relationship between protoporphyrin IX and hematologic parameters in patients with protoporphyria (20 September, 2024)

  Rebecca Karp Leaf, Paul Y Jiang, Benny Tran, Robert J Goddu, Narmene Bensaber, Lina Rebeiz, Sarina B Elmariah, Pamela Hodges, Jennifer Mead, John Trinidad, Behnam Saberi, Mark D Fleming, Sarah Ducamp, Karl E Anderson, Staffan Wahlin, Amy K Dickey
• 04160 Observed and predicted effects of HMBS variants – results from the PredPor study (20 September, 2024)

  Helene J Bustad, Marthe S Christie, Juha P Kallio, Marte Høvik Hammersland, Åshild Enes Rostad, Janice Andersen, Jørild Haugen Villanger, Mikko Laitaoja, Janne Jänis, Aurora Martinez, Aasne K Aarsand

Thematic area: recent advances in the pathophysiology of porphyrias

• 04122 Coexistence of Wilson’s disease and hereditary coproporphyria: effect of copper on the heme pathway (20 September, 2024)

  Elif Bilge Atasay, İlayda Altun, Sude Çavdaroğlu, Gülbüz Sezgin
• 04164 Hepatic porphyrias onset. The role of NR1/2 gene variants (20 September, 2024)

  Johanna Romina Zuccoli, Viviana Alicia Melito, Laura Sabina Varela, Priscila Ayelén Pagnotta, Victoria Estela Parera, Ana María Buzaleh
• 04098 Smart metabolic metro-map: dynamics of the biochemical chain reactions and its correlation to pathophysiology of metabolic disorders (20 September, 2024)

  Farzaneh Taringou, Thomas Weiland
• 04174 A congenital erythropoietic porphyria case of unknown genetic mutation (20 September, 2024)

  Dalal Yehya, Liezel Griffin, Denise Darby