A case of primary hypertrophic osteoarthropathy: Management considerations

Abstract

A 35-year-old man was referred with a history dating back to childhood, where he was noted to have swelling of his hands and feet from an early age. By the age of 14, he started to develop pain in his knees, ankles and particularly the right foot. This pain worsened over subsequent years and led to a debulking operation on the right foot. Unfortunately the operation was of no benefit, with ongoing right foot pain rated as 10/10 in severity, and limiting his ability to stand and walk for any significant period of time. He reported associated hyperhidrosis of the hands and feet, and widespread eczema as a child. Interestingly there was no documented family history of the condition, but on further questioning, his parents were noted to be second cousins. Figure 1 represents a photograph of his hands, while Figure 2 shows a plain radiograph of his hands. | QUE S TI ON 1What features are demonstrated on the images, and what is the working diagnosis? | QUE S TI ON 2What can cause hypertrophic osteoarthropathy?Given the presentation and family background, he had undergone genetic testing, which demonstrated homozygosity of the 15hydroxyprostaglandin dehydrogenase (HPGD) mutation c418 G > C, in keeping with primary hypertrophic osteoarthropathy (PHO). On review in our clinic, his pain remained life-limiting. | QUE S TI ON 3What management options are available for treatment of hypertrophic osteoarthropathy?For control of his pain, he had tried treatment with ibuprofen and then naproxen with no appreciable effect. After review, he was treated with intravenous pamidronate, following which he reported a transient improvement in his pain-both in his foot and elsewhere.Further pamidronate infusions were subsequently arranged, with continued benefit, and he was commenced on etoricoxib. With the latter, he reported marked improvement in pain, with foot pain rated as 6/10 after establishment on this treatment. As his foot pain was not completely resolved, magnetic resonance imaging and dual energy computed tomography scans were requested with the latter demonstrating sodium urate crystals in the first right metatarsophalyngeal joint, associated with an elevated serum urate. Following initial management of the gout, he is now established on allopurinol treatment.