The Spanish HHT Unit

The Spanish HHT Unit

The Spanish HHT Unit began its work in 2002. Since then, it offers clinical approach, genetic test, collaboration with molecular research and it is supported by the Spanish Association of HHT patients. The aim of this unit is to offer the best care for HHT patients. The idea of creating the Spanish HHT Unit is due to the research group of Luisa Botella and Carmelo Bernabeu of the Center for Biological Investigation of the Spanish Research Council (CIB-CSIC) in Madrid. They have been studying endoglin for many years and contacted our hospital because of a previous article of ours published in a medical journal regarding a series of HHT patients.

The Spanish HHT group consists thus with:

The reference Hospital (Hospital Sierrallana. Torrelavega. Cantabria)

That offeres HHT screening protocol (blood tests, X Ray, abdominal ultrasound, thoracoabdominal multisliced CT, brain angioMRI, contrast Echocardio, capilaroscopy, QOL survey and evaluation by ENT, Ophtalmology, Pneumology, Gastroenterology and Rheumathology). Specific treatments (including interventional radiology), and follow up are provided. Genetic test (ALK1, ENG, SMAD 4, MLPa techniques), counselling and embryonic preimplantation selection are also available.

Although the coordination is located in Hospital Sierrallana, several hospitals and professionals of the region, collaborate in diagnosis/treatment: University Hospital Marqués de Valdecilla (genetics, Interventional radiology, reference for transplantations and neurosurgery), Instituto Radiológico Cántabro (MRI), Residencia Cantabria (pediatrics). Considering the recomendations based on previous publications in literature and experts panels, we have developed a series of protocols that are being implemented.

Up to date, we have evaluated more than 300 patients (either seen in the unit or genetically diagnosed). Patients have direct access to an "HHT direct phone" in the hospital and they can also contact us through e-mail. An increasing number of patients from Portugal and South America are contacting our unit. We have approached some clinicians of those countries to encourage them to set up their own HHT units, and offering our support and collaboration.

The Molecular Research based at the Center for Biological Investigation of the Spanish Research Council (CIB-CSIC) in Madrid.

This team supervised by Luisa Botella and Carmelo Bernabeu has a dilated experience working on molecular basis of HHT, including cellular and animal models, blood outgrowth endothelial cells, genetic therapy usin mice, and biochemical and molecular studies on endoglin and ALK1 genes. The work of this team has been supported by grants from the Ministry of Education and Science, the Ministry of Health, and Ramón Areces Foundation of Spain, as well as by the HHT Foundation International, USA. The molecular research team, together with the clinicians at the Sierrallana Hospital, are members of the Centre for Biomedical research on Rare Diseases (CIBERER), a Spanish network of groups studying rare diseases that is funded by the Ministry of Health.t

The Spanish HHT Patients' Association www.asociacionhht.org

It provides updated information and resources for families in Spanish and Portuguese, yearly meetings, promotion of collaboration with European associations. The Spanish HHT Patients' ssociation is a member of FEDER (Spanish Federation of Rare Disease Associations).
We have experience in organizing HHT related events. In fact, the first two meetings in 2004 and 2005 of the Spanish HHT Association were organized and sponsored by the Molecular Research group (CIB-CSIC) in Madrid. More recently, the HHT unit of the Hospital Sierrallana in Torrelavega has organized on behalf of the Spanish HHT Association the third annual meeting in 2006, as well as the fourth edition in 2007. These two events involved the active participation of excellent clinicians in the field of HHT, such as Dr. Robert I White Jr (in 2006) and Drs. Claire Shovlin and Urban Geistoff (in 2007).

Nowadays, a new clinical HHT Unit is becoming to work located in Salamanca, depending on the Clinical Universitary Hospital of that city. The Queen Sofía Institute in Salamanca University has got a long tradition in basic research about endoglin.

Web site sponsor

  • Centro de investigación biomédica en red de enfermedades raras
  • Fundación Comillas
  • Asociación HHT España
  • Fundación Grace Nolan
  • Fundación Internacional HHT
  • Hospital de Sierrallana
  • Servicio Cántabro de Salud
  • Consejo Superior de Investigaciones Científicas
  • IFIMAV - Instituto de Formación e Investigación Marqués de Valdecilla
  • Iberia
  • Gobierno de Cantabria
  • Ayuntamiento de Santander
  • CSIC - Centro de Investigaciones Biológicas
  • SEMI - Sociedad Española de Medicina Interna
  • Genoma España
  • Santander 2016
  • Colegio Oficial de Médicos de Cantabria
  • Sociedad Iberoamericana de Información Científica
  • FarmaIndustria
  • Medicus Mundi Cantabria
  • Fundación Ramón Areces
  • Plan Nacional I+D+i