Rheumatic Diseases

Fernando Pimentel Santos

Fernando Pimentel

Principal Investigator



Campus Hospital Egas Moniz
Serviço de Neurologia
Rua da Junqueira, 126
1349-019 Lisboa

Phone: (+351) 213 629 353
Fax: (+351) 213 629 353
E-mail: pimentel.santos(at)nms.unl.pt

Main interests

Epidemiology of Rheumatic Diseases. Musculoskeletal Pain (eg. Fibromyalgia). Genetics of Spodyloarthropathies and Juvenile idiopathic Arthritis (JIA).

Research Areas

a) To develop epidemiological studies in rheumatologic diseases;
b) To strengthen the participation in international research networks - e.g. International Genetics of Ankylosing Spondylitis (IGAS) consortium.

The main specific goals are:
1.To develop the clinical, socio-economical and genetic characterization of Ankylosing Spondylitis (AS) in Portugal. The main objective to 2009 was to complete a national survey and collect samples regarding DNA, RNA and proteomic studies.
2.At the Portuguese level, we were interested in knowing the AS impact in terms of severity and quality of life. At the European and world level, the main objective is to join the prominent groups in the genetic research field to understand in large cohorts the genetic influence in terms of susceptibility, phenotypic and therapeutic response.
3.To develop the clinical and genetic characterization of JIA in Portugal. We pretend to perform a survey and biological samples collection until July of 2011.
4.To identify JIA susceptibility, prognostic and pharmacogenetic factors, based on genetic and serologic studies. The pattern of disease progression and response to treatment of a JIA cohort will be correlated with baseline clinical variables, gene polymorphisms and serum and synovial fluid cytokine levels.

Main Achievements:
a) The group published papers in top scientific journals, strengthened participation in international research networks and made significant advances in the implementation of important studies.
b) Integration in the International Genetics of Ankylosing Spondylitis (IGAS) consortium . In this context participation in the 7th annual Research & Education Meeting of SPARTAN, in Conjunction with the PANLAR, B27 and IGAS Meetings in Houston, July 2009 and in Shangai Coneference, March 2011.
c) Integration in the Immunochip Project, a multicenter study involving 15000 SPA patients from several American, Asian and European countries regarding Genetic determinants of AS identification from GWAS.

Future research:
Other future projects in the area of rheumatology include: “Sensibility to Change of Enthesis ultrasonography in Spondylarthritis”, “Biomarkers Identification of Anti-TNF alfa Agents Efficacy in Ankylosing Spondylitis Patients Using a Transcriptoma Analysis and Mass Spectometry” and “Susceptibility, prognostic and pharmacogenetic factors in Portuguese patients with Juvenile Idiopathic Arthritis”. Stratification analysis of the immunochip data for Iberian population.

Discover more about the Neuronal Control of Metabolic disturbances: Therapeutic Strategies Lab

- As respostas da medicina para fazer frente ao lúpus



EpiReumaPt, funded by DGS and Pharmaceutical companies.

Ankylosing Spondylitis: genomic and functional characterization of candidate genes and its repercussion in clinical practice, funded by CEDOC and Pharmaceutical companies.

Susceptibility, prognostic and pharmacogenetic factors in Portuguese patients with Juvenile Idiopathic Arthritis, funded by FCT-MCTES.

Doppler Ultrasound a Valid and Reliable Tool to Assess Spondyloarthritis

  • Macfarlane GJ, Kronisch C, Atzeni F, Häuser W, Choy EH, Amris K, Branco J, Dincer F, Leino-Arjas P, Longley K, McCarthy G, Makri S, Perrot S, Sarzi Puttini P, Taylor A, Jones GT (2017) EULAR recommendations for management of fibromyalgia. Ann Rheum Dis. 2017 May
  • Macfarlane GJ, Kronisch C, Dean LE, Atzeni F, Häuser W, Fluß E, Choy E, Kosek E, Amris K, Branco J, Dincer F, Leino-Arjas P, Longley K, McCarthy GM, Makri S, Perrot S, Sarzi-Puttini P, Taylor A, Jones GT. (2016) EULAR revised recommendations for the management of fibromyalgia. Ann Rheum Dis. 2016 Jul 4. pii: annrheumdis-2016-209724. doi: 10.1136/annrheumdis-2016-209724. [Epub ahead of print]
  • Zinovieva E, Kadi A, Letourneur F, Cagnard N, Izac B, Vigier A, Said-Nahal R, Elewaut D, de Vlam K, Pimentel-Santos F, Chiocchia G, Breban M. Systematic candidate-gene investigations in the SPA2 locus (9q32) show an association between the gene TNFSF8 and susceptibility to spondyloarthritis. Arthritis Rheum 2011; 63(7): 1853-9;
  • Pimentel-Santos FM, Ligeiro D, Matos M, Mourão AF, Costa J, Santos H, Barcelos A, Godinho F, Pinto P, Cruz M, Fonseca JE, Guedes-Pinto H, Branco JC, Brown MA, Thomas G. Whole blood transcriptional profiling in ankylosing spondylitis identifies novel candidate genes that might contribute to the inflammatory and tissue-destructive disease aspects. Arthritis Res Ther 2011; 13(2): R57;
  • Alamino RP, Maldonado Cocco J, Citera G, Arturi P, Vazquez-Mellado J, Sampaio Barros P, Flores D, Burgos-Vargas R, Santos H, Chavez Corrales J, Palleiro D, Gutierrez M, Sousa E, Pimentel-Santos FM, Paira S, Berman A, Moreno M, Collantez-Estevez E, on behalf of RESPONDIA GROUP. Differential features between pure AS and Spondylitis associated with Psoriasis and Inflammatory Bowel Disease. J Rheumatol 2011; 38(8): 1656-60;
  • Pimentel-Santos FM, Mourão AF, Ribeiro C, Costa J, Santos H, Barcelos A, Pinto P, Godinho F, Cruz M, Vieira-Sousa E, Santos RA, Rabiais S, Félix J, Fonseca JE, Guedes-Pinto H, Brown MA, Branco JC; CORPOREA Study Group. Spectrum of ankylosing spondylitis in Portugal. Development of BASDAI, BASFI, BASMI and mSASSS reference centile charts. Clin Rheumatol. 2011 Oct 19. [Epub ahead of print];
  • Díaz-Peña R, Aransay AM, Bruges-Armas J, Rodríguez-Ezpeleta N, Regueiro M, Pimentel-Santos FM, Mulero J, Aánchez A, Collantes E, Queiro R, Ballina J, Alves H, López-Larrea C. High density snp genotyping assay of a chromosome 19q13 identified an association between cnot3 polymorphism and ankylosing spondylitis. Ann Rhem Dis. 2011 Dec 11 [Epub ahead of print];
  • Mourão AF, Canhão H, Aguiar Moura R, Cascão R, Weinmann P, Rodrigues AM, Polido- Pereira J, Resende C, Capela S, Pereira da Silva JA, Queiroz MV, Fonseca JE. Markers of progression to rheumatoid arthritis and the discriminative value of the new ACR/EULAR classification criteria for rheumatoid arthritis in an untreated polyarthritis cohort with less than 6 weeks of disease duration. Acta Reumatol Port 2011; 36: 73 (sup);
  • de Miguel E, Falcao S, Castillo C, Plasencia C, García M, Branco JC, Martín-Mola E. Enthesis erosion in spondyloarthritis is not a persistent structural lesion.Ann Rheum Dis. 2011;70:2008-10;
  • BRANCO JC, TOMÉ AM, CRUZ M, FILIPE A. Pirlindole in the Treatment of Depression and Fibromyalgia Syndrome. Clinical Drug Investigation 2011;31(10):675-689;
  • BRANCO JC, CHERIN P, MONTAGNE A, BOUROUBI A. European 1-Year Extension Study Following a 3-Month Study. J Rheumatol 2011;38(7):1403-13;
  • BRANCO JC, & CANHÃO H. Estudo Epidemiológico das Doenças Reumáticas em Portugal-EpiReumaPt. Acta Reumatol Port 2011;36:203-4;
  • CANHÃO H, FAUSTINO A, MARTINS F, FONSECA JE, SOUSA E, SILVA JAP, SANTOS MJ, SILVA JC, GOMES JAM, DUARTE C, SILVA JA, PATTO JV, SIMÕES E, CASTELÃO W, BRANCO JC… CRUZ M. Reuma.pt – The Rheumatic Diseases Portuguese Register. Acta Reumatol Port 2011; 36: 45-56;
  • CRUZ M & BRANCO JC. Porque Cai o Mundo? A Problemática das Quedas e o Impacto Sócio-Económico das Fracturas Osteoporóticas. Cadernos Ortopedia 2011; 7: 8-11;
  • SILVA I, MATEUS M, BRANCO JC. RANK/RANKL/OPG: Literature Review. Acta Reumatol Port 2011;36:209-18;
  • BAPTISTA F, FRAGOSO I, BRANCO JC, MATOS AA, SARDINHA LB. Reference Data for Bone Speed of Sound in Portuguese Girls and Boys Aged 9-13 Years. J Clin Densitom 2011; 14: 484-91. Epub Aug 12;
  • DE MIGUEL E, FALCÃO S, CASTILHO C, PLASENCIA C, GARCIA-ARIAS M, BRANCO JC, MARTIN-MOLA E. Enthesis Erosion in Spondylarthritis is not a Persistant Structural Lesion. Ann Rheum Dis 2011;70:2003-7;
  • PEREIRA D, PELETEIRO B, ARAÚJO J, BRANCO JC, SANTOS RA, RAMOS E. The Effect of Osteoarthritis Definition on Prevalence and Incidence Estimates; a Systematic Review. Osteoathritis and Cartilage. 2011; 19: 1270-85. Epub 2011 Aug 24;
  • PIMENTEL-SANTOS FM, LIGEIRO D, MATOS M, MOURÃO AF …. BRANCO JC. ANKH and Susceptibility and Severity of Ankylosing Spondylitis Journal Rheumatol 2012;39(1):131-4. Epub 2011 Oct 5;
  • PIMENTEL-SANTOS FM, PINTO TL, SANTOS H, BARCELOS A, CUNHA I, BRANCO JC, FERREIRA PL. Portuguese Version of the bath Indexes for Ankylosing Spondylitis Patients. Clin Rheumatol 2012; 31: 341-6. Epub 2011 Oct 5;
  • FONSECA JE, BERNARDES M, CANHÃO H, SANTOS MJ, QUINTAL A, …..BRANCO JC … ALCINO S, RAMIRO S, CAPELA S. Portuguese Guidelines for the use of Biological Agents in Rheumatoid Arthritis – October 2011 Update. Acta Reumatol Port 2011;36:385-8;
  • MOURÃO AF, FONSECA JE, CANHÃO H, SANTOS MJ, BERNARDO A, …., BRANCO JC, … RAMIRO S, SILVEIRA R, NÓVOA T. Guia Prático de Utilização de Terapêuticas Biotecnológicas na Artrite Reumatóide – Actualização de Dezembro 2011. Acta Reumatol Port 2011;36:389-95;
  • CANHÃO H, FAUSTINO A, SANTOS MJ, DUARTE C, GOMES JAM, … BRANCO JC, SILVA JAP, SILVA JC, SILVA JA, SANTOS LM, FONSECA JE. Reuma.PT-Rheumatic Diseases Portuguese Register. Acta Reumatol Port 2011; 36 (Supl 1): 30;
  • PIMENTEL-SANTOS FM, MATOS M, LIGEIRO D, MOURÃO AF, RIBEIRO A, SANTOS H, BARCELOS A, SOUSA E, FONSECA JE, GUEDES-PINTO H, BROWN MA, THOMAS G, BRANCO JC. SPOCK2 e EP300: Dois Novos Genes Envolvidos na Neo-formação Óssea da Espondilite Anquilosante? Acta Reumatol Port 2011; 36 (Supl 1): 35;
  • SILVA I, RIBEIRO C, ARAÚJO F, NERO P, BRANCO JC. Vasculite Reumatóide: um Caso de Incumprimento Terapêutico. Acta Reumatol Port 2011; 36 (Supl 1): 65;
  • PIMENTEL-SANTOS FM, MOURÃO AF, RIBEIRO C, COSTA J, SANTOS H, BARCELOS A, SOUSA E, PINTO P, GODINHO F, CRUZ M, SANTOS RA, SEQUEIRA G, RABIAIS S, FÉLIX J, FONSECA JE, GUEDES-PINTO H, BRANCO JC. Manifestações Clínicas e Radiológicas da Espondilite Anquilosante numa População Portuguesa: A Influência do Sexo. Acta Reumatol Port 2011;36 (Supl 1): 86;
  • SILVA I, MATEUS M, BRANCO JC. Caracterización y Evaluación de Infecciones en Patientes Bajo Terapéutica Biológica. Reumatologia Clínica 2011;7:94;
  • SILVA I, MATEUS M, BRANCO JC. Characterization and Assessment of Infections in Patients Undergoing Biologic Therapies. Ann Rheum Dis, 2011;70(Suppl 3):568;
  • DIAMANTOPOULOS , ANDRADE S, BERNARDO A, BRANCO JC, INÊS L, PEREIRA SILVA JA, SANTOS MJ, MONTEIRO I. Cost-effectiveness of Tocilizumab Compared to Standard Therapeutic Sequences for the Treatment of Moderate/Severe Rheumatoid Arthritis (RA). Patients in Portugal. Value in Health 2011;14:A307;
  • RAMIRO S, MACHADO P, ROQUE R, SANTOS H, POLIDO-PEREIRA J, .. BRANCO JC, …, van der HEIJDE D, LANDEWÉ R, SANTOS MJ. Performance of the Ankylosing Spondylitis Disease Activity Score (ASDAS) in Patients under Biological Therapies in Daily Practice – Results from the Portuguese Register Reuma.Pt. Arthritis & Rheum 2011;63 (Suppl 10):S195;
  • PIMENTEL-SANTOS FM, MOURÃO AF, RIBEIRO C, COSTA J, SANTOS H, …, BRANCO JC. Clinical and Radiological Manifestations of Ankylosing Spondylitis:Gender Differences. Arthritis & Rheum 2011;63 (Suppl 10):S515-6;
  • SILVA I, MATEUS M, BRANCO JC. Maladie de Poncet: un cas de Polyarthrite Symétrique Séronégative avec Enthésiopathie Réfractaire à la Thérapeutique. Revue Rheumatism 2011;78 (Suppl 5): A165-A166;
  • FONSECA JE & BRANCO JC. Uma Visão para a Reumatologia: B.I. da SPR 2011; III série (10): 10-2;
  • CARVALHO JF, BARROS SM, BRANCO JC, FONSECA JE. Ásia or Schoenfells Syndrome Highlighting Different Perspectives for Diffuse Chronic Pain. Acta Reumatol Port 2011;36:


      • Avaliação Diagnóstica em Reumatologia. 2ª edição. Ed. Jaime C. Branco. Lidel Lda, Lisboa, 2011;
      • Pimentel dos Santos FM, Thomas G, Branco JC. Lessons from Genomic Profiling in AS. In: Bruges-Armas J ed., Ankylosing Spondylitis, Rijeka, Croatia: INTECH Open Acess Publisher, ISBN: 978-953-51-0137-6, 2012. Disponivel em (http://www.intechopen.com/articles/show/title/lessons-from-genomic-profiling-in-as).


1. University of Queensland, Brisbane

2. INSERM, Hôpital Cochin, Paris

3. Instituto de Medicina Molecular, Rheumatology Research Unit, Faculdade de Medicina da Universidade de Lisboa, Lisbon.

4. Centro de Estudos de Doenças Crónicas (CEDOC), Faculdade de Ciências Médicas da Universidade Nova de Lisboa, Lisbon.

5. Rheumatology and Bone Metabolic Diseases Department, Centro Hospitalar de Lisboa Norte, Santa Maria Hospital, Lisbon.

6. Rheumatology Department, Centro Hospitalar de Lisboa Ocidental, Egas Moniz Hospital, Lisbon.

7. Rheumatology Department, Garcia de Orta Hospital, Almada.

8. Pediatric Department, São João Hospital, Porto.

9. Rheumatology Department, Centro Hospitalar do Alto Minho, Conde de Bertiandos Hospital, Ponte de Lima, Viana do Castelo.

10. Rheumatology Department, Centro Hospitalar do Funchal, Nélio Mendonça Hospital, Madeira.

11. Pediatrics Department, Centro Hospitalar de Coimbra, Coimbra.

12. Rheumatology Department, Divino Espírito Santo Hospital, Ponta Delgada, Açores.

13. Rheumatology and Pediatric Departments, Centro Hospitalar de Faro, Faro.

Team photos