Anti-HMGCR myopathy: a first case report from North Africa and literature insights
Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy is a rare idiopathic inflammatory myopathy characterized by severe muscle damage and minimal extra-muscular involvement. This report presents the first documented case of severe, treatment-resistant HMGCR-myopathy in a Tunisi...
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Frontiers Media S.A.
2025-05-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1590913/full |
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| author | Houssem Abida Houssem Abida Imen Zamali Imen Zamali Imen Zamali Imène Rachdi Imène Rachdi Zakaria Saied Zakaria Saied Ahlem Ben Hmid Ahlem Ben Hmid Ahlem Ben Hmid Samar Samoud Samar Samoud Yousr Galai Fatma Daoud Fatma Daoud Fatma Boussema Fatma Boussema Samia Ben Sassi Samia Ben Sassi Zohra Aydi Zohra Aydi Mélika Ben Ahmed Mélika Ben Ahmed Mélika Ben Ahmed |
| author_facet | Houssem Abida Houssem Abida Imen Zamali Imen Zamali Imen Zamali Imène Rachdi Imène Rachdi Zakaria Saied Zakaria Saied Ahlem Ben Hmid Ahlem Ben Hmid Ahlem Ben Hmid Samar Samoud Samar Samoud Yousr Galai Fatma Daoud Fatma Daoud Fatma Boussema Fatma Boussema Samia Ben Sassi Samia Ben Sassi Zohra Aydi Zohra Aydi Mélika Ben Ahmed Mélika Ben Ahmed Mélika Ben Ahmed |
| author_sort | Houssem Abida |
| collection | DOAJ |
| description | Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy is a rare idiopathic inflammatory myopathy characterized by severe muscle damage and minimal extra-muscular involvement. This report presents the first documented case of severe, treatment-resistant HMGCR-myopathy in a Tunisian and North African patient. A 43-year-old man with no significant medical history experienced progressive muscle weakness over one year, leading to difficulty walking. Examination revealed pronounced proximal muscle weakness, particularly in the lower limbs, with significant quadriceps atrophy. Laboratory results indicated elevated Creatine Kinase (CK) levels at 10000 UI/l and Lactate dehydrogenase (LDH) at 400 UI/l. Electromyography confirmed myogenic damage, and muscle biopsy revealed extensive muscle necrosis and regeneration with moderate inflammatory infiltrates. Screening for anti-HMGCR antibodies was positive. Initial treatment with high-dose prednisone showed a good response but led to flares upon tapering. Subsequent treatment with methotrexate, azathioprine, and rituximab resulted in partial clinical and biological improvement. This case underscores the challenges in diagnosing and managing anti-HMGCR myopathy due to limited awareness and access to testing. |
| format | Article |
| id | doaj-art-bf830e9f97534ff4a3cf269cf0d1b698 |
| institution | Kabale University |
| issn | 1664-3224 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj-art-bf830e9f97534ff4a3cf269cf0d1b6982025-08-20T03:53:12ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-05-011610.3389/fimmu.2025.15909131590913Anti-HMGCR myopathy: a first case report from North Africa and literature insightsHoussem Abida0Houssem Abida1Imen Zamali2Imen Zamali3Imen Zamali4Imène Rachdi5Imène Rachdi6Zakaria Saied7Zakaria Saied8Ahlem Ben Hmid9Ahlem Ben Hmid10Ahlem Ben Hmid11Samar Samoud12Samar Samoud13Yousr Galai14Fatma Daoud15Fatma Daoud16Fatma Boussema17Fatma Boussema18Samia Ben Sassi19Samia Ben Sassi20Zohra Aydi21Zohra Aydi22Mélika Ben Ahmed23Mélika Ben Ahmed24Mélika Ben Ahmed25Faculty of Medicine de Tunis, University of Tunis El Manar, Tunis, TunisiaLaboratory of Clinical Immunology, Institut Pasteur de Tunis, Tunis, TunisiaFaculty of Medicine de Tunis, University of Tunis El Manar, Tunis, TunisiaLaboratory of Clinical Immunology, Institut Pasteur de Tunis, Tunis, TunisiaLaboratory of Transmission, Control and Immunobiology of Infection, Institut Pasteur de Tunis, Tunis, TunisiaFaculty of Medicine de Tunis, University of Tunis El Manar, Tunis, TunisiaInternal medicine department, Habib Thameur Hospital, Tunis, TunisiaFaculty of Medicine de Tunis, University of Tunis El Manar, Tunis, TunisiaNeurology department, National Institute of Neurology Mongi Ben Hamida, Tunis, TunisiaFaculty of Medicine de Tunis, University of Tunis El Manar, Tunis, TunisiaLaboratory of Clinical Immunology, Institut Pasteur de Tunis, Tunis, TunisiaLaboratory of Transmission, Control and Immunobiology of Infection, Institut Pasteur de Tunis, Tunis, TunisiaLaboratory of Clinical Immunology, Institut Pasteur de Tunis, Tunis, TunisiaLaboratory of Transmission, Control and Immunobiology of Infection, Institut Pasteur de Tunis, Tunis, TunisiaLaboratory of Clinical Immunology, Institut Pasteur de Tunis, Tunis, TunisiaFaculty of Medicine de Tunis, University of Tunis El Manar, Tunis, TunisiaInternal medicine department, Habib Thameur Hospital, Tunis, TunisiaFaculty of Medicine de Tunis, University of Tunis El Manar, Tunis, TunisiaInternal medicine department, Habib Thameur Hospital, Tunis, TunisiaFaculty of Medicine de Tunis, University of Tunis El Manar, Tunis, TunisiaNeurology department, National Institute of Neurology Mongi Ben Hamida, Tunis, TunisiaFaculty of Medicine de Tunis, University of Tunis El Manar, Tunis, TunisiaInternal medicine department, Habib Thameur Hospital, Tunis, TunisiaFaculty of Medicine de Tunis, University of Tunis El Manar, Tunis, TunisiaLaboratory of Clinical Immunology, Institut Pasteur de Tunis, Tunis, TunisiaLaboratory of Transmission, Control and Immunobiology of Infection, Institut Pasteur de Tunis, Tunis, TunisiaAnti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy is a rare idiopathic inflammatory myopathy characterized by severe muscle damage and minimal extra-muscular involvement. This report presents the first documented case of severe, treatment-resistant HMGCR-myopathy in a Tunisian and North African patient. A 43-year-old man with no significant medical history experienced progressive muscle weakness over one year, leading to difficulty walking. Examination revealed pronounced proximal muscle weakness, particularly in the lower limbs, with significant quadriceps atrophy. Laboratory results indicated elevated Creatine Kinase (CK) levels at 10000 UI/l and Lactate dehydrogenase (LDH) at 400 UI/l. Electromyography confirmed myogenic damage, and muscle biopsy revealed extensive muscle necrosis and regeneration with moderate inflammatory infiltrates. Screening for anti-HMGCR antibodies was positive. Initial treatment with high-dose prednisone showed a good response but led to flares upon tapering. Subsequent treatment with methotrexate, azathioprine, and rituximab resulted in partial clinical and biological improvement. This case underscores the challenges in diagnosing and managing anti-HMGCR myopathy due to limited awareness and access to testing.https://www.frontiersin.org/articles/10.3389/fimmu.2025.1590913/fullcase reportautoimmunityanti-HMGCRinflammatory myopathytherapeutics |
| spellingShingle | Houssem Abida Houssem Abida Imen Zamali Imen Zamali Imen Zamali Imène Rachdi Imène Rachdi Zakaria Saied Zakaria Saied Ahlem Ben Hmid Ahlem Ben Hmid Ahlem Ben Hmid Samar Samoud Samar Samoud Yousr Galai Fatma Daoud Fatma Daoud Fatma Boussema Fatma Boussema Samia Ben Sassi Samia Ben Sassi Zohra Aydi Zohra Aydi Mélika Ben Ahmed Mélika Ben Ahmed Mélika Ben Ahmed Anti-HMGCR myopathy: a first case report from North Africa and literature insights Frontiers in Immunology case report autoimmunity anti-HMGCR inflammatory myopathy therapeutics |
| title | Anti-HMGCR myopathy: a first case report from North Africa and literature insights |
| title_full | Anti-HMGCR myopathy: a first case report from North Africa and literature insights |
| title_fullStr | Anti-HMGCR myopathy: a first case report from North Africa and literature insights |
| title_full_unstemmed | Anti-HMGCR myopathy: a first case report from North Africa and literature insights |
| title_short | Anti-HMGCR myopathy: a first case report from North Africa and literature insights |
| title_sort | anti hmgcr myopathy a first case report from north africa and literature insights |
| topic | case report autoimmunity anti-HMGCR inflammatory myopathy therapeutics |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2025.1590913/full |
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