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Autoinflammatory Diseases In Five Colombian Patients: Clinical Spectrum and Diagnostic Challenge

Lady J. Hernández Zapata1, 2*, Monica Velásquez Méndez3, Ruth Eraso Garnica1, 2, 4, Martha I Álvarez-Olmos5, 6, 7, Pilar Guarnizo Zucardi7, Carlos E. Olmos6, 8, 9, Carolina Rivera7, Alaín Bautista10 and Jose L. Franco11
  • 1 Universidad de Antioquia, Facultad de Medicina, Colombia
  • 2 Universidad de Antioquia, Facultad de Medicina, Colombia
  • 3 San Vicente Fundación Hospital Universitario, Hospital Infantil, Colombia
  • 4 Hospital Pablo Tobón Uribe, Colombia
  • 5 Universidad El Bosque, Colombia
  • 6 Universidad del Rosario, Colombia
  • 7 Fundación Cardioinfantil IC, Colombia
  • 8 Universidad Militar de Colombia, Colombia
  • 9 CAYRE Centro de Especialistas, Colombia
  • 10 Hospital Santa Sofía, Colombia
  • 11 Universidad de Antioquia, Facultad de Medicina, Colombia

Autoinflammatory diseases (ADs, also known as periodic fevers) are rare inborn errors of innate immunity characterized by dysregulation of the inflammatory response that leads to recurrent episodes of fever and other associated symptoms, due to organ-specific or systemic inflammation. Up to date, 19 genes have been associated with 21 monogenic autoinflammatory phenotypes that can be inherited as autosomal dominant or recessive traits, and most of these patients have been described belonging to certain ethnic groups. We describe five Colombian patients from 4 reference centers in 3 different cities from September of 2011 to July of 2014, in whom the diagnosis of ADs was established based on clinical and laboratory abnormalities and report the mutational analyses of ADs-related genes. The patients were 3 females and two males born from apparently non-consanguineous parents and were diagnosed at the ages of 20 months, 4 and 17 years, and 16 months and 7 years, respectively. All but one exhibited recurrent fevers (with different patterns of periodicity) associated to other symptoms such as cervical adenopathies, oral and perianal aphthous stomatitis, joint pain, myalgias, abdominal pain, periorbital edema, hepatosplenomegaly, rash and failure to thrive. The fifth patient started at an early age with skin manifestations and soon started to present with recurrent fever and vomit, associated to adenomegalies, hepatosplenomegaly and failure to thrive. All of them exhibited increased acute phase reactants (WBC and platelet counts, sPCR, ESR, etc.) as well as anemia mostly during episodes of fever, and these returned to normal values upon cessation of the fever. Only one patient had a family history of skin manifestations in his mother. Other findings included high IgA (2) and IgD (1) and hypertriglyceridemia. Mutational analysis confirmed Hyper-IgD Syndrome (Mevalonate kinase deficiency, OMIM # 260920) in 2 patients due to previously known mutations in MVK, Mediterranean Familial Fever (MVF, OMIM #249100) in 1 patient due to a known mutation in MEFV, while in patients 4 and 5 the diagnosis of TNFRc-Periodic Associated Syndrome (TRAPS, OMIM # 142680) and CANDLE Syndrome (OMIM # 256040) have been suggested based no identification of a variants with potential loss of function in TNFRSF1A and PSMB8. Diagnosis of monogenic ADs is rather difficult due to the rarity of these diseases, the heterogeneous clinical manifestations exhibited by most patients and the lack of well-defined biomarkers, often resulting in delayed diagnosis and treatment. In addition, most cases require mutational analyses of putative genes to confirm the diagnosis and in some, non conclusive results are reported because of variants of unknown significance are found for which only bioinformatics tools define their potential pathogenicity, but without experimental evidence to confirm it. We present 5 cases of monogenic ADs in Colombia that have been analyzed at the genetic level to confirm the presumed diagnosis; however genetic analyses are expensive and access to these tests is becoming increasingly difficult. More research is required to better define biomarkers that help clinicians to improve the diagnosis of these diseases.

Keywords: Autoinflammatory diseases, Mevalonate Kinase Deficiency, Mediterranean Familial Fever, TNFRc-Periodic Associated Syndrome, CANDLE Syndrome

Conference: IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología, Medellin, Colombia, 13 Oct - 16 Oct, 2015.

Presentation Type: Poster Presentation

Topic: Innate Immunity

Citation: Hernández Zapata LJ, Velásquez Méndez M, Eraso Garnica R, Álvarez-Olmos M, Guarnizo Zucardi P, Olmos CE, Rivera C, Bautista A and Franco JL (2015). Autoinflammatory Diseases In Five Colombian Patients: Clinical Spectrum and Diagnostic Challenge. Front. Immunol. Conference Abstract: IMMUNOCOLOMBIA2015 - 11th Congress of the Latin American Association of Immunology - 10o. Congreso de la Asociación Colombiana de Alergia, Asma e Inmunología. doi: 10.3389/conf.fimmu.2015.05.00034

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Received: 01 Jun 2015; Published Online: 14 Sep 2015.

* Correspondence: MD. Lady J Hernández Zapata, Universidad de Antioquia, Facultad de Medicina, Medellín, Colombia, johanna_hz@yahoo.es