Decoding the Haematological Enigma: Insights from Primary Hypertrophic Osteoarthropathy Case Studies

Primary Hypertrophic Osteoarthropathy (PHO) demonstrates variable inherited penetrance, and clinical expression. The identification of SLCO2A1 (solute carrier organic anion transporter family member 2A1), HPGD(Hydroxyl prostaglandin dehydrogenase) has provided new insights into its pathophysiology. These discoveries have facilitated diagnosis, particularly in paediatric population. This study emphasises genetic level diagnostic approach alongside therapeutic interventions. A prospective, multicentric study was conducted at two tertiary care centre. Eight PHO cases were identified after excluding all other causes of transfusion-dependent microcytic hypochromic anaemia. Genetic mutation in the genes SLCO2A1, HPGD were studied. All patients received treatment with etoricoxib and steroid therapy, were followed up for one year. In our cohort, all were males. Six patients had classical phenotypic expression. Three had prominent gastrointestinal manifestations. Two paediatric patients had family history of transfusion-dependent anaemia. All had homozygous recessive SLCO2A1 mutation. Five patients experienced transient improvement in form of transfusion-free period, decrease in spleen size, and reduced arthralgia, fatigue. Three patients didn't demonstrate any major therapeutic benefit. Clinicians should maintain high index of suspicion for PHO in young patients presenting with transfusion-dependent microcytic anaemia, particularly after excluding all inherited, acquired causes. Although etoricoxib, steroids show therapeutic promise. Further extensive research is necessary to establish their efficacy, safety.