Relapsing Polychondritis in a Child with Autism: Rare within Rare 1st Case Described

Aaron Lerner^{1, 2}, Jozélio Freire de Carvalho^3, , Thiago Ferreira da Silva⁴, Carina Benzvi¹, Maria Fernanda Leal dos Santos Ribeiro⁵ and Motti Haimi^{6, 7}

¹Chaim Sheba Medical Center, The Zabludowicz Research Center for Autoimmune Diseases, Israel

²Ariel University, Ariel, Israel

³Núcleo de Pesquisa em Doenças Crônicas não Transmissíveis (NUPEN), School of Nutrition from the Federal University of Bahia, Salvador, Bahia, Brazil

⁴Instituto de Pesquisa e Ensino Médico do Estado de Minas Gerais Ltda (IPEMED), São Paulo-SP, Brazil

⁵UNEX University center School of Medicine, Feira de Santana, Bahia, Brazil

⁶Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel

⁷School of Public Health, University of Haifa, Haifa, Israel;Clalit Health Services, Tel Aviv, Israel

Cite this paper:
Aaron Lerner, Jozélio Freire de Carvalho, Thiago Ferreira da Silva, Carina Benzvi, Maria Fernanda Leal dos Santos Ribeiro and Motti Haimi. Relapsing Polychondritis in a Child with Autism: Rare within Rare 1st Case Described. International Journal of Celiac Disease. 2023; 11(1):28-31. doi: 10.12691/ijcd-11-1-6

Abstract

A relationship between autism and autoimmunity is well known and various autoimmune diseases were associated with the autistic spectrum. Relapsing polychondritis is a rare autoimmune disease manifested mainly in adults. Following is the first case presentation of a girl presented with relapsing polychondritis who was on the autistic spectrum. Several mechanisms can be envisioned to connect those two diseases.

Keywords:
relapsing polychondritis vasculitis autism Autism spectrum disorder ASD

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References:

[1]	Grygiel-Górniak, B., Tariq, H., Mitchell, J., Mohammed, A. and Samborski, W., “Relapsing polychondritis: state-of-the-art review with three case presentations”, Postgraduate medicine, 133 (8). 953-963. 2021.
[2]	Rednic, S., Damian, L., Talarico, R., Scirè, C.A., Tobias, A., Costedoat-Chalumeau, N., Launay, D., Mathian, A., Mattews, L., Ponte, C., et al., “Relapsing polychondritis: state of the art on clinical practice guidelines”, RMD open, 4 (Suppl 1). October 2018.
[3]	Borgia, F., Giuffrida, F., Guarneri, F. and Cannavò, S.P., “Relapsing Polychondritis: An Updated Review”, Biomedicines, 6 (3). September 2018.
[4]	Schumacher, S. and Pieringer, H., “Relapsing polychondritis: a chameleon among orphan diseases”, Wiener medizinische Wochenschrift (1946), 167 (9-10). 227-233. June 2017.
[5]	Lokken, A. and Wang, A., “Relapsing Polychondritis as a Cause of Sudden and Unexpected Death With Central Nervous System Involvement”, The American journal of forensic medicine and pathology, 43 (3). 263-268. September 2022.
[6]	Chernyak, V.I., Savel’ev A I, Men’shikova, I. V. and Pogromov, A.P., “NERVOUS SYSTEM LESIONS ASSOCIATED WITH RELAPSING POLYCHONDRITIS: ANALYSIS OF ORIGINAL OBSERVATIONS”, Klinicheskaia meditsina, 94 (2). 108-113. 2016.
[7]	Liu, L., Liu, S., Guan, W. and Zhang, L., “Efficacy of tocilizumab for psychiatric symptoms associated with relapsing polychondritis: the first case report and review of the literature”, Rheumatology international, 36 (8). 1185-1189. August 2016.
[8]	Edmiston, E., Ashwood, P. and Van de Water, J., “Autoimmunity, Autoantibodies, and Autism Spectrum Disorder”, Biological psychiatry, 81 (5). 383-390. March 2017.
[9]	Ferrada, M.A., Sikora, K.A., Luo, Y., Wells, K. V., Patel, B., Groarke, E.M., Ospina Cardona, D., Rominger, E., Hoffmann, P., Le, M.T., et al., “Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS”, Arthritis & rheumatology (Hoboken, N.J.), 73 (10). 1886-1895. October 2021.
[10]	Yoshida, T., Yoshifuji, H., Shirakashi, M., Nakakura, A., Murakami, K., Kitagori, K., Akizuki, S., Nakashima, R., Ohmura, K. and Morinobu, A., “Risk factors for the recurrence of relapsing polychondritis”, Arthritis research & therapy, 24 (1). December 2022.
[11]	Liu, Y., Li, X., Cheng, L., Zhan, H., Huang, Y., Li, H. and Li, Y., “Progress and Challenges in the Use of Blood Biomarkers in Relapsing Polychondritis”, Clinical and experimental immunology, February 2023.
[12]	Petitdemange, A., Sztejkowski, C., Damian, L., Martin, T., Mouthon, L., Amoura, Z., Cutolo, M., Burmester, G.R., Fonseca, J.E., Rednic, S., et al., “Treatment of relapsing polychondritis: a systematic review”, Clinical and experimental rheumatology, 40 Suppl 134 (5). S81-S85. May 2022.
[13]	Kemta Lekpa, F. and Chevalier, X., “Refractory relapsing polychondritis: challenges and solutions”, Open access rheumatology : research and reviews, 10 1-11. January 2018.
[14]	McAdam, L.P., O’Hanlan, M.A., Bluestone, R. and Pearson, C.M., “Relapsing polychondritis: Prospective study of 23 patients and a review of the literature”, Medicine (United States), 55 (3). 193-215. 1976.
[15]	Alqanatish, J.T., Alfarhan, B.A. and Qubaiban, S.M., “Limited auricular relapsing polychondritis in a child treated successfully with infliximab”, BMJ Case Reports, 12 (5). May 2019.
[16]	Alqanatish, J.T. and Alshanwani, J.R., “Relapsing polychondritis in children: A review”, Modern Rheumatology, 30 (5). 788-798. September 2020.
[17]	Fonseca, A.R., De Oliveira, S.K.F., Rodrigues, M.C.F., Aymoré, I.L., Domingues, R.C. and Sztajnbok, F.R., “Relapsing polychondritis in childhood: Three case reports, comparison with adulthood disease and literature review”, Rheumatology International, 33 (7). 1873-1878. July 2013.
[18]	Erbescu, A., Papuc, S.M., Budisteanu, M., Arghir, A. and Neagu, M., “Re-emerging concepts of immune dysregulation in autism spectrum disorders.”, Frontiers in psychiatry, 13 1006612. October 2022.
[19]	Hughes, H.K., R.J.Moreno and Ashwood, P., “Innate immune dysfunction and neuroinflammation in autism spectrum disorder (ASD)”, Brain, Behavior, and Immunity, 108 245-254. February 2023.
[20]	Simone, M., De Giacomo, A., Palumbi, R., Palazzo, C., Lucisano, G., Pompamea, F., Micella, S., Pascali, M., Gabellone, A., Marzulli, L., et al., “Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Potential Diagnostic Biomarkers in Autism Spectrum Disorders: A Preliminary Study”, International Journal of Molecular Sciences, 24 (3). February 2023.
[21]	Nour-Eldine, W., Ltaief, S.M., Abdul Manaph, N.P. and Al-Shammari, A.R., “In search of immune cellular sources of abnormal cytokines in the blood in autism spectrum disorder: A systematic review of case-control studies”, Frontiers in Immunology, 13 October 2022.
[22]	Sun, C.K., Cheng, Y.S., Chen, I.W., Chiu, H.J., Chung, W., Tzang, R.F., Fan, H.Y., Lee, C.W. and Hung, K.C., “Impact of parental rheumatoid arthritis on risk of autism spectrum disorders in offspring: A systematic review and meta-analysis”, Frontiers in Medicine, 9 November 2022.
[23]	Bernardini, N., Skroza, N., Marraffa, F., Prevete, E., Mambrin, A., Proietti, I., Tolino, E., Caviglia, M., Di Guardo, A., Rossi, G., et al., “A case of twins affected by psoriasis, psoriatic arthritis and autism: Five years of efficacious and safe treatment with Secukinumab”, Dermatologic Therapy, 35 (7). July 2022.
[24]	Heidari, A., Rostam-Abadi, Y. and Rezaei, N., “The immune system and autism spectrum disorder: association and therapeutic challenges”, Acta neurobiologiae experimentalis, 81 (3). 249-263. 2021.
[25]	Hansen, N., Luedecke, D., Malchow, B., Lipp, M., Vogelgsang, J., Timäus, C., Zindler, T., Gingele, S., Kühn, S., Gallinat, J., et al., “Autoantibody-associated psychiatric syndromes in children: link to adult psychiatry”, Journal of neural transmission (Vienna, Austria : 1996), 128 (6). 735-747. June 2021.
[26]	Gesundheit, B., Rosenzweig, J.P., Naor, D., Lerer, B., Zachor, D.A., Procházka, V., Melamed, M., Kristt, D.A., Steinberg, A., Shulman, C., et al., “Immunological and autoimmune considerations of Autism Spectrum Disorders”, Journal of Autoimmunity, 44 1-7. August 2013.
[27]	Lerner, A., Aminov, R. and Matthias, T., “Dysbiosis may trigger autoimmune diseases via inappropriate post-translational modification of host proteins”, Frontiers in microbiology, 7 (FEB). February 2016.
[28]	Lerner, A., Aminov, R. and Matthias, T., “Transglutaminases in dysbiosis as potential environmental drivers of autoimmunity”, Frontiers in microbiology, 8 (JAN). January 2017.
[29]	Lerner, A. and Benzvi, C., “Microbial transglutaminase is a very frequently used food additive and is a potential inducer of autoimmune/neurodegenerative diseases.”, Toxics, 9 (10). September 2021.
[30]	Lerner, A. and Matthias, T., “Rheumatoid arthritis-celiac disease relationship: joints get that gut feeling”, Autoimmunity reviews, 14 (11). 1038-1047. November 2015.
[31]	Lerner, A., Neidhöfer, S. and Matthias, T., “The gut microbiome feelings of the brain: A perspective for non-microbiologists”, Microorganisms, 5 (4).66. October 2017.
[32]	Shimizu, J., Kubota, T., Takada, E., Takai, K., Fujiwara, N., Arimitsu, N., Murayama, M.A., Ueda, Y., Wakisaka, S., Suzuki, T., et al., “Propionate-producing bacteria in the intestine may associate with skewed responses of IL10-producing regulatory T cells in patients with relapsing polychondritis”, PloS one, 13 (9). September 2018.
[33]	Dargenio, V.N., Dargenio, C., Castellaneta, S., De Giacomo, A., Laguardia, M., Schettini, F., Francavilla, R. and Cristofori, F., “Intestinal Barrier Dysfunction and Microbiota-Gut-Brain Axis: Possible Implications in the Pathogenesis and Treatment of Autism Spectrum Disorder”, Nutrients, 15 (7).1620. March 2023.
[34]	Xu, X.J., Lang, J.D., Yang, J., Long, B., Liu, X.D., Zeng, X.F., Tian, G. and You, X., “Differences of gut microbiota and behavioral symptoms between two subgroups of autistic children based on γδT cells-derived IFN-γ Levels: A preliminary study”, Frontiers in immunology, 14 2023.
[35]	Alharthi, A., Alhazmi, S., Alburae, N. and Bahieldin, A., “The Human Gut Microbiome as a Potential Factor in Autism Spectrum Disorder”, International journal of molecular sciences, 23 (3). February 2022.
[36]	Ashwood, P., “Preliminary Findings of Elevated Inflammatory Plasma Cytokines in Children with Autism Who Have Co-Morbid Gastrointestinal Symptoms”, Biomedicines, 11 (2). February 2023.
[37]	lerner, A., Wusterhausen, P., Ramesh, A., Lopez, F. and Matthias, T., “The Gut Feeling of the Joints: Celiac Disease and Rheumatoid Arthritis Are Related”, International Journal of Celiac Disease, 7 (1).21–25. April 2019.
[38]	Lerner, A. and Matthias, T., “GUT-the Trojan Horse in remote organs’ Autoimmunity”, Journal of Clinical and Cellular Immunology, 7 (2). 1-10. 2016.
[39]	Matei, D.E., Menon, M., Alber, D.G., Smith, A.M., Nedjat-Shokouhi, B., Fasano, A., Magill, L., Duhlin, A., Bitoun, S., Gleizes, A., et al., “Intestinal barrier dysfunction plays an integral role in arthritis pathology and can be targeted to ameliorate disease”, Med (New York, N.Y.), 2 (7). 864-883.e9. July 2021.