A Case Report of Mixed Connective Tissue Disease Predominantly Manifesting as Systemic Sclerosis in a Middle-Aged Nepali Woman


Authors : Ajit Kumar Sah; Sneha Shah; Sushant Guragain; Bikash Sahani; Omkar Jha

Volume/Issue : Volume 9 - 2024, Issue 9 - September

Google Scholar : https://shorturl.at/1n4FB

Scribd : https://shorturl.at/Qaw42

DOI : https://doi.org/10.38124/ijisrt/IJISRT24SEP240

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Abstract : Introduction: Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disorder, first described in 1972, that presents with overlapping features of systemic lupus erythematosus, systemic sclerosis, and polymyositis. The diagnosis of MCTD is complex and often delayed due to its varied clinical manifestations and the requirement of serological confirmation, particularly the presence of anti-U1 RNP antibodies. Despite its global prevalence, data on MCTD are limited, especially in the South Asian population.  Case Report: We present the case of a 42-year-old Nepali woman with a decade-long history of myalgia, muscle weakness, and joint pain, initially misdiagnosed as rheumatoid arthritis. Over time, she developed Raynaud phenomenon, dysphagia, and progressive muscle weakness, which prompted further investigation. Serological testing revealed elevated levels of anti-U1 RNP antibodies and a positive antinuclear antibody (ANA) titer, confirming the diagnosis of MCTD according to the Alarcón-Segovia criteria. The patient was successfully managed with a regimen of corticosteroids, hydroxychloroquine, and nifedipine, resulting in significant symptomatic improvement.  Discussion: This case underscores the diagnostic challenges associated with MCTD, a condition that may present with nonspecific symptoms and mimic other rheumatic diseases. The prolonged diagnostic journey of this patient highlights the need for heightened clinical suspicion and comprehensive serological testing in patients with overlapping connective tissue disease features. Furthermore, the case contributes to the limited body of literature on MCTD in the South Asian population, emphasizing the importance of early recognition and tailored management strategies to improve patient outcomes.  Conclusion: MCTD is a complex and under-recognized autoimmune disorder, particularly in the South Asian context. This case report highlights the importance of considering MCTD in the differential diagnosis of patients with multi-systemic involvement and underscores the role of serological testing in confirming the diagnosis. Early diagnosis and appropriate management are crucial in mitigating disease progression and improving the quality of life for patients with MCTD.

References :

  1. Sharp GC, Irvin WS, Tan EM, Gould RG, Holman HR: Mixed connective tissue disease--an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). The American journal of medicine. 1972, 52:148-159. 10.1016/0002-9343(72)90064-2
  2. Somarelli JA, Mesa A, Rodriguez R, et al.: Epitope mapping of the U1 small nuclear ribonucleoprotein particle in patients with systemic lupus erythematosus and mixed connective tissue disease. Lupus. 2011, 20:274-289. 10.1177/0961203310387180
  3. Pepmueller PH: Undifferentiated Connective Tissue Disease, Mixed Connective Tissue Disease, and Overlap Syndromes in Rheumatology. Missouri medicine. 2016, 113:136-140.
  4. Ferucci ED, Johnston JM, Gordon C, Helmick CG, Lim SS: Prevalence of Mixed Connective Tissue Disease in a Population-Based Registry of American Indian/Alaska Native People in 2007. Arthritis care & research. 2017, 69:1271-1275. 10.1002/acr.23135
  5. Gunnarsson R, Molberg O, Gilboe IM, Gran JT: The prevalence and incidence of mixed connective tissue disease: a national multicentre survey of Norwegian patients. Annals of the rheumatic diseases. 2011, 70:1047-1051. 10.1136/ard.2010.143792
  6. Ungprasert P, Crowson CS, Chowdhary VR, Ernste FC, Moder KG, Matteson EL: Epidemiology of Mixed Connective Tissue Disease, 1985-2014: A Population-Based Study. Arthritis care & research. 2016, 68:1843-1848. 10.1002/acr.22872
  7. Abdelgalil Ali Ahmed S, Adam Essa ME, Ahmed AF, et al.: Incidence and Clinical Pattern of Mixed Connective Tissue Disease in Sudanese Patients at Omdurman Military Hospital: Hospital-Based Study. Open access rheumatology : research and reviews. 2021, 13:333-341. 10.2147/oarrr.S335206
  8. John KJ, Sadiq M, George T, et al.: Clinical and Immunological Profile of Mixed Connective Tissue Disease and a Comparison of Four Diagnostic Criteria. International journal of rheumatology. 2020, 2020:9692030. 10.1155/2020/9692030
  9. Burdt MA, Hoffman RW, Deutscher SL, Wang GS, Johnson JC, Sharp GC: Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. Arthritis and rheumatism. 1999, 42:899-909. 10.1002/1529-0131(199905)42:5<899::Aid-anr8>3.0.Co;2-l
  10. Lundberg I, Hedfors E: Clinical course of patients with anti-RNP antibodies. A prospective study of 32 patients. The Journal of rheumatology. 1991, 18:1511-1519.
  11. Cappelli S, Bellando Randone S, Martinović D, et al.: "To be or not to be," ten years after: evidence for mixed connective tissue disease as a distinct entity. Seminars in arthritis and rheumatism. 2012, 41:589-598. 10.1016/j.semarthrit.2011.07.010
  12. Kasukawa R: Mixed connective tissue disease. Internal medicine (Tokyo, Japan). 1999, 38:386-393. 10.2169/internalmedicine.38.386
  13. Kasukawa R: Mixed Connective Tissue Disease. Autoimmune Diseases of the Skin: Pathogenesis, Diagnosis, Management. Hertl M (ed): Springer Vienna, Vienna; 2005. 245-260. 10.1007/3-211-27377-8_12
  14. Rasmussen EK, Ullman S, Høier-Madsen M, Sørensen SF, Halberg P: Clinical implications of ribonucleoprotein antibody. Archives of dermatology. 1987, 123:601-605.
  15. Reiseter S, Gunnarsson R, Corander J, et al.: Disease evolution in mixed connective tissue disease: results from a long-term nationwide prospective cohort study. Arthritis research & therapy. 2017, 19:284. 10.1186/s13075-017-1494-7
  16. van den Hoogen FH, Spronk PE, Boerbooms AM, et al.: Long-term follow-up of 46 patients with anti-(U1)snRNP antibodies. British journal of rheumatology. 1994, 33:1117-1120. 10.1093/rheumatology/33.12.1117
  17. Christopher-Stine L, Wigley F: Tumor necrosis factor-alpha antagonists induce lupus-like syndrome in patients with scleroderma overlap/mixed connective tissue disease. The Journal of rheumatology. 2003, 30:2725-2727.
  18. Khanna A, Suri JC, Ray A, Sharma RK: Silica associated mixed connective tissue disorder in a stone crusher. Indian journal of occupational and environmental medicine. 2013, 17:76-77. 10.4103/0019-5278.123172
  19. Kuipers EJ, van Leeuwen MA, Nikkels PG, Jager J, van Rijswijk MH: Hemobilia due to vasculitis of the gall bladder in a patient with mixed connective tissue disease. The Journal of rheumatology. 1991, 18:617-618.
  20. Karsulovic C, Hojman LP, Seelmann DL, Wurmann PA: Diffuse Lymphadenopathy Syndrome as a Flare-Up Manifestation in Lupus and Mixed Connective Tissue Disease Following Mild COVID-19. The American journal of case reports. 2021, 22:e932751. 10.12659/ajcr.932751
  21. Carnero-Montoro E, Barturen G, Povedano E, et al.: Epigenome-Wide Comparative Study Reveals Key Differences Between Mixed Connective Tissue Disease and Related Systemic Autoimmune Diseases. Frontiers in immunology. 2019, 10:1880. 10.3389/fimmu.2019.01880
  22. Flåm ST, Gunnarsson R, Garen T, Lie BA, Molberg Ø: The HLA profiles of mixed connective tissue disease differ distinctly from the profiles of clinically related connective tissue diseases. Rheumatology (Oxford, England). 2015, 54:528-535. 10.1093/rheumatology/keu310
  23. Peller JS, Gabor GT, Porter JM, Bennett RM: Angiographic findings in mixed connective tissue disease. Correlation with fingernail capillary photomicroscopy and digital photoplethysmography findings. Arthritis and rheumatism. 1985, 28:768-774. 10.1002/art.1780280707
  24. Mimura Y, Ihn H, Jinnin M, Asano Y, Yamane K, Tamaki K: Rheumatoid factor isotypes in mixed connective tissue disease. Clinical rheumatology. 2006, 25:572-574. 10.1007/s10067-005-0185-y
  25. Yin G, Cen XM, Yang M, Xie QB: [Detecting anti-cyclic citrullinated peptide antibody in patients with connective tissue diseases]. Sichuan da xue xue bao Yi xue ban = Journal of Sichuan University Medical science edition. 2011, 42:374-377.
  26. Chaigne B, Scirè CA, Talarico R, et al.: Mixed connective tissue disease: state of the art on clinical practice guidelines. RMD open. 2018, 4:e000783. 10.1136/rmdopen-2018-000783
  27. Gendi NS, Welsh KI, Van Venrooij WJ, Vancheeswaran R, Gilroy J, Black CM: HLA type as a predictor of mixed connective tissue disease differentiation. Ten-year clinical and immunogenetic followup of 46 patients. Arthritis and rheumatism. 1995, 38:259-266. 10.1002/art.1780380216
  28. Gunnarsson R, Hetlevik SO, Lilleby V, Molberg Ø: Mixed connective tissue disease. Best practice & research Clinical rheumatology. 2016, 30:95-111. 10.1016/j.berh.2016.03.002
  29. Nimelstein SH, Brody S, McShane D, Holman HR: Mixed connective tissue disease: a subsequent evaluation of the original 25 patients. Medicine. 1980, 59:239-248.

Introduction: Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disorder, first described in 1972, that presents with overlapping features of systemic lupus erythematosus, systemic sclerosis, and polymyositis. The diagnosis of MCTD is complex and often delayed due to its varied clinical manifestations and the requirement of serological confirmation, particularly the presence of anti-U1 RNP antibodies. Despite its global prevalence, data on MCTD are limited, especially in the South Asian population.  Case Report: We present the case of a 42-year-old Nepali woman with a decade-long history of myalgia, muscle weakness, and joint pain, initially misdiagnosed as rheumatoid arthritis. Over time, she developed Raynaud phenomenon, dysphagia, and progressive muscle weakness, which prompted further investigation. Serological testing revealed elevated levels of anti-U1 RNP antibodies and a positive antinuclear antibody (ANA) titer, confirming the diagnosis of MCTD according to the Alarcón-Segovia criteria. The patient was successfully managed with a regimen of corticosteroids, hydroxychloroquine, and nifedipine, resulting in significant symptomatic improvement.  Discussion: This case underscores the diagnostic challenges associated with MCTD, a condition that may present with nonspecific symptoms and mimic other rheumatic diseases. The prolonged diagnostic journey of this patient highlights the need for heightened clinical suspicion and comprehensive serological testing in patients with overlapping connective tissue disease features. Furthermore, the case contributes to the limited body of literature on MCTD in the South Asian population, emphasizing the importance of early recognition and tailored management strategies to improve patient outcomes.  Conclusion: MCTD is a complex and under-recognized autoimmune disorder, particularly in the South Asian context. This case report highlights the importance of considering MCTD in the differential diagnosis of patients with multi-systemic involvement and underscores the role of serological testing in confirming the diagnosis. Early diagnosis and appropriate management are crucial in mitigating disease progression and improving the quality of life for patients with MCTD.

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