2020-02-27-News-CIMA-GEEP

The Cima and the Clinica Universidad de Navarra have participated in the launching of the first Spanish group for the Study of Porphyrias (GEEP). This is a scientific association multidisciplinary aimed at supporting advances in the prevention, diagnosis and treatment of porphyrias.

Dr. Delia D'Avola, a specialist in Hepatology at the Clínica, has been elected coordinator of the GEEP together with Dr. Paula Aguilera, a specialist in Dermatology at the Clínica. Hospital Clínic de Barcelona. "The variety of clinical manifestations, which are also very common in other pathologies, explains that porphyrias are sometimes confused with other pathologies, which increases the diagnostic delay. This delay has a very negative impact on patients' quality of life," explains Dr. D'Avola.

In total, the group is made up of eleven specialists from different centers nationwide, among them the Dr. Antonio Fontanellasresearcher of the Hepatology Programme of Cima and expert in porphyrias. 

As Dr. Fontanellas explains, "the rise of molecular technology is making it possible to develop novel and more effective therapies that specifically combat the origin of the disease, and procedures that allow rapid detection, even before symptoms appear. goal The GEEP was created with the aim of bringing these emerging therapies and procedures closer to patients with the ultimate goal of improving their quality of life".

Acute intermittent porphyria

Acute intermittent porphyria is a rare, or orphan, disease Genetics caused by the inability of the liver to metabolize porphyrin precursors. It presents as painful intermittent crises and can lead to significant neurological damage and even require liver transplantation. In these patients the crises can be triggered by certain medications, strict diets or prolonged stress. However, the main triggering factor is the female hormones associated with the menstrual cycle. Therefore, this porphyria manifests itself especially in young women with important work and family responsibilities.

group founder of GEEP

The GEEP is formed by specialists in Internal Medicine, Hepatology, Dermatology, Biochemistry , Pediatrics, Genetics and Emergency Medicine from different Spanish centers:

• Dr. Rafael Enríquez de Salamanca, Full Professor emeritus of the Complutense University of Madrid.

• Dr. Delia D'Avola, specialist in Hepatology of the Clínica Universidad de Navarra

• Dr. Paula Aguilera, specialist in Dermatology at Hospital Clinic de Barcelona.

• Dr. Antonio Fontanellas, researcher of the Hepatology Program of the CIMA University of Navarra. Adjunct Professor of the School of Medicine of the University of Navarra. 

• Dr. Francisco Javier Castelbón, specialist in Internal Medicine, Hospital 12 de Octubre, Madrid.

• Dr. Salvador García Morillo, coordinator of the Rare Diseases Unit of the Virgen del Rocío Hospital in Seville.

• Dr. Jordi To-Figueras, specialist in Biochemistry Clinic of the Hospital Clínic de Barcelona and Senior Associate Professor of the University of Barcelona. 

• Dr. Juan de Dios García Díaz, specialist of the Clinical Unit Genetics , Internal Medicine Department of the Hospital Universitario Príncipe de Asturias de Alcalá de Henares, in Madrid.

• Dr. Encarna Guillén Navarro, specialist in Pediatrics. Clinical Geneticist. Section of Genetics Medical. Hospital C. Universitario Virgen de la Arrixaca in Murcia. IMIB-Arrixaca. University of Murcia. CIBERER-ISCIII.

• Dr. Ana María Martínez Virto, Emergency Department Quality Coordinator, Hospital de La Paz, Madrid.

• Dr. Óscar Millet, Group Leader. Precision Medicine and Metabolism Lab. CIC bioGUNE.