Primary Hypertrophic Osteoarthropathy With SLCO2A1 Mutation in a Chinese Patient Successfully Treated With Etoricoxib

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To the Editor:
Primary hypertrophic osteoarthropathy (PHO), or pachydermoperiostosis, is a rare monogenic disease characterized by digital clubbing, periostosis, and pachydermia, whose precise incidence and prevalence are still unknown.1,2 Primary hypertrophic osteoarthropathy, accounting for only 5% of hypertrophic osteoarthropathy, should exclude other secondary causes such as cardiopulmonary disease.3 Up to date, 2 genes, 15-hydroxyprostaglandin dehydrogenase (HPGD) and solute carrier organic anion transporter family, member 2A1 (SLCO2A1), have been reported to be responsible for 2 subtypes of PHO, respectively.1HPGD is a prostaglandin-degrading enzyme, which physiologically antagonizes cyclooxygenase 2 (COX-2),4,5 whereas SLCO2A1 gene encodes prostaglandin transporter, which is involved in mediating the uptake and clearance of prostaglandins in numerous tissues.1,6 Defect of either gene will cause deregulation of prostaglandin E2 (PGE2), which may explain many symptoms of PHO, including nail clubbing, patent ductus arteriosus, and subperiosteal new bone formation involving long bones of the limbs.7,8 Indeed, elevated PGE2 was observed in many PHO patients.9 We report a Chinese patient with PHO carrying mutation in SLCO2A1 gene.
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