Research Article
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Is rheumatoid arthritis a neglected comorbidity in neurofibromatosis type 1?

Year 2023, Volume: 6 Issue: 5, 910 - 918, 28.09.2023
https://doi.org/10.32322/jhsm.1310764

Abstract

Aims: Neurofibromatosis type 1 (NF-1) is a relatively rare disorder with autosomal dominant inheritance. Despite current reports highlighting the association between NF-1 and some rheumatic diseases (e.g., systemic lupus erythematosus, juvenile idiopathic arthritis, ankylosing spondylitis, and antiphospholipid antibody syndrome), the literature seems to have missed focusing on its relationship with rheumatological disorders. Hence, the present study attempted to explore definite NF-1 molecular genetic mutation in association with accompanying rheumatic diseases, particularly rheumatoid arthritis.
Methods: The patients (n=23) aged 18 years who were diagnosed with NF-1 genetic mutation between 2010-2022 in the medical genetics department of our university were recruited for medical examination regarding rheumatic disorders in our rheumatology outpatient clinic.
Results: There were a total of 23 patients in this study, 14 (60.9%) males and 9 (39.1%) females, with a mean age of 27.4±9.2 years (18-51 years). As a result, 4 (17.3%) patients were diagnosed with rheumatoid arthritis (RA), 3 with seropositive RA, and one with seronegative RA. Of the diagnoses, two were established RA, and two were early RA. All patients with RA had a positive metacarpophalangeal joint (MCP) squeeze test and experienced pain in bilateral hands and wrists and morning stiffness for more than 45 min.
Conclusion: While the community prevalence of RA is about 1%, it is noteworthy that we detected RA in 17.3% of our patients. In the follow-up of patients with NF-1, routine examinations for pain in bilateral hands and wrists, morning stiffness over 45 minutes, and positivity of the MCP squeeze test are thought to allow early diagnosis of RA and, thus, relevant therapies.

References

  • Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 1. Nat Rev Dis Primers. 2017;3(1):17004. doi:10.1038/nrdp.2017.4.
  • Messiaen LM, Callens T, Mortier G, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000;15(6):541-555. doi:10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N.
  • Çarman KB. Neurofibromatosis type-1: Evaluation of 49 cases. Haydarpasa Numune Med J. 2017. doi:10.14744/hnhj.2017.86580.
  • Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis Type 1 Revisited. Pediatrics. 2009;123(1):124-133. doi:10.1542/peds.2007-3204.
  • Brems H, Beert E, de Ravel T, Legius E. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 2009;10(5):508-515. doi:10.1016/S1470-2045(09)70033-6.
  • Le LQ, Parada LF. Tumor microenvironment and neurofibromatosis type I: connecting the GAPs. Oncogene. 2007;26(32):4609-4616. doi:10.1038/sj.onc.1210261.
  • Esra S, Ceren G, Erdal S, Hatice B, Fatma E, Banu A. Is There a tendency for autoimmunity in neurofibromatosis type 1? —case reports. Indian J Pediatr. 2022;89(5):510-512. doi:10.1007/s12098-021-04010-1.
  • Till SH, Amos RS. Neurofibromatosis masquerading as monoarticular juvenile arthritis. Br J Rheumatol 1997;36(2):286-288. doi:10.1093/rheumatology/36.2.286.
  • Gundogdu B, Yolbas S, Yildirim A, Gonen M, Koca SS. Coexistence of Ankylosing Spondylitis and Neurofibromatosis Type 1. Case Rep Rheumatol. 2016;2016:1-3. doi:10.1155/2016/4039801.
  • Mbekeani JN, Galvez-Ruis A, Nezzar H, Conca W, Ahmed M. Antiphospholipid syndrome and neurofibromatosis type I: A coincidence or new association? Arq Bras Oftalmol. 2019;82(2):155-157. doi:10.5935/0004-2749.20190032.
  • Akyüz SG, Çaltik A, Bülbül M, Erdoğan Ö, Renda R, Demircin G. An unusual pediatric case with neurofibromatosis and systemic lupus erythematosus. Rheumatol Int. 2012;32(8):2345-2347. doi:10.1007/s00296-011-1966-z.
  • Rischin A, De Silva T, Le Marshall K. Reversible eruption of neurofibromatosis associated with tofacitinib therapy for rheumatoid arthritis. Rheumatology. 2019;58(6):1111-1113. doi:10.1093/rheumatology/kez012.
  • Drago F, Pastorino C, Cecchi F, Parodi A. Segmental eruptive neurofibromatosis infliximab-induced. J Eur Acad Dermatol Venereol. 2016;30(2):356-357. doi:10.1111/jdv.12770.
  • Aletaha D, Neogi T, Silman AJ, et al.. 2010 Rheumatoid arthritis classification criteria: an American College of Rheumatology/European League Against Rheumatism collaborative initiative. Ann Rheum Dis. 2010;69(9):1580-1588. doi:10.1136/ard.2010.138461.
  • Singh JA, Saag KG, Bridges SL Jr, et al.. 2015 American College of Rheumatology Guideline for the treatment of rheumatoid arthritis. Arthritis Rheumatol.. 2016;68(1):1-26. doi:10.1002/art.39480.
  • Oliver JA, Lapinski PE, Lubeck BA, et al. The Ras GTPase-activating protein neurofibromin 1 promotes the positive selection of thymocytes. Mol Immunol. 2013;55(3-4):292-302. doi:10.1016/j.molimm.2013.03.005.
  • Hiatt K, Ingram DA, Huddleston H, Spandau DF, Kapur R, Clapp DW. loss of the Nf1 tumor suppressor gene decreases fas antigen expression in myeloid cells. Am J Pathol. 2004;164(4):1471-1479. doi:10.1016/S0002-9440(10)63233-6.
  • Nanda A. Autoimmune diseases associated with neurofibromatosis type 1. Pediatr Dermatol. 2008;25(3):392-393. doi:10.1111/j.1525-1470.2008.00692.x.
  • Kallionpää RA, Ahramo K, Aaltonen M, Pennanen P, Peltonen J, Peltonen S. Circulating free DNA in the plasma of individuals with neurofibromatosis type 1. Am J Med Genet A. 2021;185(4):1098-1104. doi:10.1002/ajmg.a.62081.
  • Galeazzi M, Morozzi G, Piccini M, et al. Dosage and characterization of circulating DNA: present usage and possible applications in systemic autoimmune disorders. Autoimmun Rev. 2003;2(1):50-55. doi:10.1016/s1568-9972(02)00101-5.
  • Lee DM, Weinblatt ME. Rheumatoid arthritis. The Lancet. 2001;358(9285):903-911. doi:10.1016/S0140-6736(01)06075-5.
  • Bousoik E, Montazeri Aliabadi H. “Do We Know Jack” About JAK? A Closer Look at JAK/STAT Signaling Pathway. Front Oncol. 2018;8. doi:10.3389/fonc.2018.00287.
  • Akar S, Birlik M, Gurler O, et al. The prevalence of rheumatoid arthritis in an urban population of Izmir-Turkey. Clin Exp Rheumatol. 2004;22(4):416-420.
  • Çapkin E, Cakirbay H, Karkucak M, et al. Prevalence of rheumatoid arthritis in the eastern Black Sea region of Turkey. Int J Rheum Dis. 2010;13(4):380-384. doi:10.1111/j.1756-185X.2010.01562.x.
  • Tuncer T. Prevalence of Rheumatoid arthritis and spondyloarthritis in Turkey: a nationwide study. Arch Rheumatol. 2018;33(2):128-136. doi:10.5606/ArchRheumatol.2018.6480.
  • Kyburz D, Gabay C, Michel BA, Finckh A. The long-term impact of early treatment of rheumatoid arthritis on radiographic progression: a population-based cohort study. Rheumatology. 2011;50(6):1106-1110. doi:10.1093/rheumatology/keq424.
  • Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 2018;20(7):671-682. doi:10.1038/gim.2018.28.
  • Gunal EK, Sarvan FO, Kamali S, et al. Low frequency of HLA-B27 in ankylosing spondylitis patients from Turkey. Joint Bone Spine. 2008;75(3):299-302. doi:10.1016/j.jbspin.2007.06.021.
  • Saidane O, Cherif I, Tekaya R, Mahmoud I, Abdelmoula L. Sacroiliac joint involvement in von recklinghausen neurofibromatosis. Arch Rheumatol. 2017;32(1):76-79. doi:10.5606/ArchRheumatol.2017.6016.
  • Moskop A, Dalrymple A, Dolatshahi L. Systemic Lupus Erythematosus, Evans Syndrome, and Neurofibromatosis: An Unusual Combination in Pediatric Patient. J Pediatr Hematol Oncol. 2020;42(4):e244-e247. doi:10.1097/MPH.0000000000001490.
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine.. 2015;17(5):405-424. doi:10.1038/gim.2015.30.
Year 2023, Volume: 6 Issue: 5, 910 - 918, 28.09.2023
https://doi.org/10.32322/jhsm.1310764

Abstract

References

  • Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 1. Nat Rev Dis Primers. 2017;3(1):17004. doi:10.1038/nrdp.2017.4.
  • Messiaen LM, Callens T, Mortier G, et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000;15(6):541-555. doi:10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N.
  • Çarman KB. Neurofibromatosis type-1: Evaluation of 49 cases. Haydarpasa Numune Med J. 2017. doi:10.14744/hnhj.2017.86580.
  • Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis Type 1 Revisited. Pediatrics. 2009;123(1):124-133. doi:10.1542/peds.2007-3204.
  • Brems H, Beert E, de Ravel T, Legius E. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 2009;10(5):508-515. doi:10.1016/S1470-2045(09)70033-6.
  • Le LQ, Parada LF. Tumor microenvironment and neurofibromatosis type I: connecting the GAPs. Oncogene. 2007;26(32):4609-4616. doi:10.1038/sj.onc.1210261.
  • Esra S, Ceren G, Erdal S, Hatice B, Fatma E, Banu A. Is There a tendency for autoimmunity in neurofibromatosis type 1? —case reports. Indian J Pediatr. 2022;89(5):510-512. doi:10.1007/s12098-021-04010-1.
  • Till SH, Amos RS. Neurofibromatosis masquerading as monoarticular juvenile arthritis. Br J Rheumatol 1997;36(2):286-288. doi:10.1093/rheumatology/36.2.286.
  • Gundogdu B, Yolbas S, Yildirim A, Gonen M, Koca SS. Coexistence of Ankylosing Spondylitis and Neurofibromatosis Type 1. Case Rep Rheumatol. 2016;2016:1-3. doi:10.1155/2016/4039801.
  • Mbekeani JN, Galvez-Ruis A, Nezzar H, Conca W, Ahmed M. Antiphospholipid syndrome and neurofibromatosis type I: A coincidence or new association? Arq Bras Oftalmol. 2019;82(2):155-157. doi:10.5935/0004-2749.20190032.
  • Akyüz SG, Çaltik A, Bülbül M, Erdoğan Ö, Renda R, Demircin G. An unusual pediatric case with neurofibromatosis and systemic lupus erythematosus. Rheumatol Int. 2012;32(8):2345-2347. doi:10.1007/s00296-011-1966-z.
  • Rischin A, De Silva T, Le Marshall K. Reversible eruption of neurofibromatosis associated with tofacitinib therapy for rheumatoid arthritis. Rheumatology. 2019;58(6):1111-1113. doi:10.1093/rheumatology/kez012.
  • Drago F, Pastorino C, Cecchi F, Parodi A. Segmental eruptive neurofibromatosis infliximab-induced. J Eur Acad Dermatol Venereol. 2016;30(2):356-357. doi:10.1111/jdv.12770.
  • Aletaha D, Neogi T, Silman AJ, et al.. 2010 Rheumatoid arthritis classification criteria: an American College of Rheumatology/European League Against Rheumatism collaborative initiative. Ann Rheum Dis. 2010;69(9):1580-1588. doi:10.1136/ard.2010.138461.
  • Singh JA, Saag KG, Bridges SL Jr, et al.. 2015 American College of Rheumatology Guideline for the treatment of rheumatoid arthritis. Arthritis Rheumatol.. 2016;68(1):1-26. doi:10.1002/art.39480.
  • Oliver JA, Lapinski PE, Lubeck BA, et al. The Ras GTPase-activating protein neurofibromin 1 promotes the positive selection of thymocytes. Mol Immunol. 2013;55(3-4):292-302. doi:10.1016/j.molimm.2013.03.005.
  • Hiatt K, Ingram DA, Huddleston H, Spandau DF, Kapur R, Clapp DW. loss of the Nf1 tumor suppressor gene decreases fas antigen expression in myeloid cells. Am J Pathol. 2004;164(4):1471-1479. doi:10.1016/S0002-9440(10)63233-6.
  • Nanda A. Autoimmune diseases associated with neurofibromatosis type 1. Pediatr Dermatol. 2008;25(3):392-393. doi:10.1111/j.1525-1470.2008.00692.x.
  • Kallionpää RA, Ahramo K, Aaltonen M, Pennanen P, Peltonen J, Peltonen S. Circulating free DNA in the plasma of individuals with neurofibromatosis type 1. Am J Med Genet A. 2021;185(4):1098-1104. doi:10.1002/ajmg.a.62081.
  • Galeazzi M, Morozzi G, Piccini M, et al. Dosage and characterization of circulating DNA: present usage and possible applications in systemic autoimmune disorders. Autoimmun Rev. 2003;2(1):50-55. doi:10.1016/s1568-9972(02)00101-5.
  • Lee DM, Weinblatt ME. Rheumatoid arthritis. The Lancet. 2001;358(9285):903-911. doi:10.1016/S0140-6736(01)06075-5.
  • Bousoik E, Montazeri Aliabadi H. “Do We Know Jack” About JAK? A Closer Look at JAK/STAT Signaling Pathway. Front Oncol. 2018;8. doi:10.3389/fonc.2018.00287.
  • Akar S, Birlik M, Gurler O, et al. The prevalence of rheumatoid arthritis in an urban population of Izmir-Turkey. Clin Exp Rheumatol. 2004;22(4):416-420.
  • Çapkin E, Cakirbay H, Karkucak M, et al. Prevalence of rheumatoid arthritis in the eastern Black Sea region of Turkey. Int J Rheum Dis. 2010;13(4):380-384. doi:10.1111/j.1756-185X.2010.01562.x.
  • Tuncer T. Prevalence of Rheumatoid arthritis and spondyloarthritis in Turkey: a nationwide study. Arch Rheumatol. 2018;33(2):128-136. doi:10.5606/ArchRheumatol.2018.6480.
  • Kyburz D, Gabay C, Michel BA, Finckh A. The long-term impact of early treatment of rheumatoid arthritis on radiographic progression: a population-based cohort study. Rheumatology. 2011;50(6):1106-1110. doi:10.1093/rheumatology/keq424.
  • Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 2018;20(7):671-682. doi:10.1038/gim.2018.28.
  • Gunal EK, Sarvan FO, Kamali S, et al. Low frequency of HLA-B27 in ankylosing spondylitis patients from Turkey. Joint Bone Spine. 2008;75(3):299-302. doi:10.1016/j.jbspin.2007.06.021.
  • Saidane O, Cherif I, Tekaya R, Mahmoud I, Abdelmoula L. Sacroiliac joint involvement in von recklinghausen neurofibromatosis. Arch Rheumatol. 2017;32(1):76-79. doi:10.5606/ArchRheumatol.2017.6016.
  • Moskop A, Dalrymple A, Dolatshahi L. Systemic Lupus Erythematosus, Evans Syndrome, and Neurofibromatosis: An Unusual Combination in Pediatric Patient. J Pediatr Hematol Oncol. 2020;42(4):e244-e247. doi:10.1097/MPH.0000000000001490.
  • Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine.. 2015;17(5):405-424. doi:10.1038/gim.2015.30.
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Details

Primary Language English
Subjects Rheumatology and Arthritis
Journal Section Original Article
Authors

Adem Erturk 0000-0001-8882-0692

Alper Sarı 0000-0002-4327-8032

Ali İzzet Akçin 0000-0001-5751-0333

Ali Sadri Uysal 0000-0002-7688-9411

Muhsin Elmas 0000-0002-5626-2160

Çağrı Turan 0000-0003-3550-0964

Early Pub Date September 26, 2023
Publication Date September 28, 2023
Published in Issue Year 2023 Volume: 6 Issue: 5

Cite

AMA Erturk A, Sarı A, Akçin Aİ, Uysal AS, Elmas M, Turan Ç. Is rheumatoid arthritis a neglected comorbidity in neurofibromatosis type 1?. J Health Sci Med / JHSM. September 2023;6(5):910-918. doi:10.32322/jhsm.1310764

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