Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report
We reported a 22-year-old Emirati male with autosomal recessive primary hypertrophic osteoarthropathy caused by a possibly pathogenic homozygous non-synonymous variant in the SLCO2A1 gene (NM_005630.3: c.289C>T, p. Arg97Cys) presenting with joint swelling, forehead furrowing, and significant...
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| Format: | Article |
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Frontiers Media S.A.
2022-12-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.1053999/full |
| _version_ | 1811187219260506112 |
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| author | Areej Albawa'neh Mariam Ghareeb Al Mansoori Sehriban Diab Fatma Al Jasmi Fatma Al Jasmi Nadia Akawi Nadia Akawi |
| author_facet | Areej Albawa'neh Mariam Ghareeb Al Mansoori Sehriban Diab Fatma Al Jasmi Fatma Al Jasmi Nadia Akawi Nadia Akawi |
| author_sort | Areej Albawa'neh |
| collection | DOAJ |
| description | We reported a 22-year-old Emirati male with autosomal recessive primary hypertrophic osteoarthropathy caused by a possibly pathogenic homozygous non-synonymous variant in the SLCO2A1 gene (NM_005630.3: c.289C>T, p. Arg97Cys) presenting with joint swelling, forehead furrowing, and significant clubbing in all fingers and toes. Currently, no standard treatments are approved for this disease; medical care is palliative and includes non-steroidal anti-inflammatory drugs, corticosteroids, tamoxifen, retinoids, and risedronate. Colchicine may be helpful for the pain due to subperiosteal new bone formation. Our patient was treated with etoricoxib 60 mg once daily and showed a significant clinical improvement at the 6-month mark that was reversed upon the withdrawal of this medication. This case report highlights the importance of placing etoricoxib among first-line therapy recommendations for cases with confirmed primary hypertrophic osteoarthropathy diagnosis. To the best of our knowledge, this is the only case of primary hypertrophic osteoarthropathy from the Middle Eastern population of Arab ethnicity that has responded to non-steroidal anti-inflammatory drug therapy. |
| first_indexed | 2024-04-11T13:58:33Z |
| format | Article |
| id | doaj.art-cb0d8adee78c475db6e83b5e1b2b785a |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-11T13:58:33Z |
| publishDate | 2022-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-cb0d8adee78c475db6e83b5e1b2b785a2022-12-22T04:20:11ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-12-011310.3389/fgene.2022.10539991053999Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case reportAreej Albawa'neh0Mariam Ghareeb Al Mansoori1Sehriban Diab2Fatma Al Jasmi3Fatma Al Jasmi4Nadia Akawi5Nadia Akawi6Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab EmiratesSheikh Shakhbout Medical City, Abu Dhabi, United Arab EmiratesSheikh Shakhbout Medical City, Abu Dhabi, United Arab EmiratesDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab EmiratesDepartment of Pediatrics, Tawam Hospital, Al Ain, United Arab EmiratesDepartment of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab EmiratesDivision of Cardiovascular Medicine, University of Oxford, Oxford, United KingdomWe reported a 22-year-old Emirati male with autosomal recessive primary hypertrophic osteoarthropathy caused by a possibly pathogenic homozygous non-synonymous variant in the SLCO2A1 gene (NM_005630.3: c.289C>T, p. Arg97Cys) presenting with joint swelling, forehead furrowing, and significant clubbing in all fingers and toes. Currently, no standard treatments are approved for this disease; medical care is palliative and includes non-steroidal anti-inflammatory drugs, corticosteroids, tamoxifen, retinoids, and risedronate. Colchicine may be helpful for the pain due to subperiosteal new bone formation. Our patient was treated with etoricoxib 60 mg once daily and showed a significant clinical improvement at the 6-month mark that was reversed upon the withdrawal of this medication. This case report highlights the importance of placing etoricoxib among first-line therapy recommendations for cases with confirmed primary hypertrophic osteoarthropathy diagnosis. To the best of our knowledge, this is the only case of primary hypertrophic osteoarthropathy from the Middle Eastern population of Arab ethnicity that has responded to non-steroidal anti-inflammatory drug therapy.https://www.frontiersin.org/articles/10.3389/fgene.2022.1053999/fullautosomal recessive primary hypertrophic osteoarthropathySLCO2A1 geneetoricoxibPGE2digital clubbing |
| spellingShingle | Areej Albawa'neh Mariam Ghareeb Al Mansoori Sehriban Diab Fatma Al Jasmi Fatma Al Jasmi Nadia Akawi Nadia Akawi Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report Frontiers in Genetics autosomal recessive primary hypertrophic osteoarthropathy SLCO2A1 gene etoricoxib PGE2 digital clubbing |
| title | Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report |
| title_full | Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report |
| title_fullStr | Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report |
| title_full_unstemmed | Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report |
| title_short | Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report |
| title_sort | etoricoxib as a treatment of choice for patients with slco2a1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy a case report |
| topic | autosomal recessive primary hypertrophic osteoarthropathy SLCO2A1 gene etoricoxib PGE2 digital clubbing |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.1053999/full |
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