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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Main Authors: Houssem Abida, Imen Zamali, Imène Rachdi, Zakaria Saied, Ahlem Ben Hmid, Samar Samoud, Yousr Galai, Fatma Daoud, Fatma Boussema, Samia Ben Sassi, Zohra Aydi, Mélika Ben Ahmed
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
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.
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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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