A case of pachydermoperiostosis treated by oral administration of a bisphosphonate and arthroscopic synovectomy

Jôjima, Hiroshi; Kinoshita, Koichi; Naito, Masatoshi

doi:10.1007/s10165-007-0585-8

Cited by 23 publications

(22 citation statements)

References 8 publications

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“…The precise incidence and prevalence of PHO remain uncertain, but considering the huge population size in the world nowadays, even the rarest genetic disease with the lowest prevalence affects a sizeable population, thus leading to great medical and social burden . No standard treatments are approved for this disease, and there are no clinical trials except some case reports with varying therapeutic response . The key finding of increased circulating PGE 2 levels in patients with PHO may bring about breakthroughs in intervention, which highlights the potential efficacy of etoricoxib, a selective cyclooxygenase‐2 (COX‐2) inhibitor, through inhibiting the enzyme activity and thereby suppressing PGE 2 biosynthesis .…”

Section: Introductionmentioning

confidence: 99%

“…(18) No standard treatments are approved for this disease, and there are no clinical trials except some case reports with varying therapeutic response. (19)(20)(21) The key finding of increased circulating PGE 2 levels in patients with PHO may bring about breakthroughs in intervention, which highlights the potential efficacy of etoricoxib, a selective cyclooxygenase-2 (COX-2) inhibitor, through inhibiting the enzyme activity and thereby suppressing PGE 2 biosynthesis. (22) We hypothesized that decreased circulating PGE 2 levels would lead to improvement in the clinical phenotypes.…”

Section: Introductionmentioning

confidence: 99%

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Clinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention

et al. 2017

Journal of Bone and Mineral Research

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Primary hypertrophic osteoarthropathy (PHO) is a rare inherited disease caused by genetic defects in the prostaglandin metabolism pathway; disturbed prostaglandin E (PGE ) catabolism resulting in increased PGE level is suggested in the pathogenesis. Forty-three Han Chinese patients with PHO were studied and 41 of them were treated. Mutations in the HPGD gene, causing hypertrophic osteoarthropathy, primary, autosomal recessive 1 (PHOAR1; OMIM 259100), were identified in seven patients, and mutations in the SLCO2A1 gene, causing hypertrophic osteoarthropathy, primary, autosomal recessive 2 (PHOAR2; OMIM 614441), were identified in 36 patients. Clinical phenotypes of PHO varied, ranging from mild isolated finger clubbing to severe pachydermia and disabling joint swelling, even within families. Circulating PGE metabolism features of PHOAR2 were different from those of PHOAR1. Different frequency and severity of pachydermia between the subgroups were also indicated. A percentage of PHOAR2 patients suffered from gastrointestinal hemorrhage, but this symptom was not observed in the PHOAR1 subgroup. Clinical evidence highlighted the essential role of sex hormones in prostaglandin transporter regulation with respect to PHOAR2 onset, although no significant associations of urinary PGE or PGE-M with sex hormones were identified. Treatment with etoricoxib, a selective cyclooxygenase-2 inhibitor, was proved to be beneficial and safe. We detected its notable efficacy in decreasing urinary PGE levels in the majority of the enrolled patients during 6 months of intervention; clinical phenotypes assessed, including pachydermia, finger clubbing, and joint swelling, were improved. We found no visible evidence of a positive effect of etoricoxib on periostosis; however, significant links between urinary PGE and serum bone turnover markers indicated a potential role of decreased PGE in periostosis management. This is the largest reported cohort of subjects genetically diagnosed with PHO. For the first time, we systematically investigated the biochemical and clinical differences between PHOAR1 and PHOAR2, and prospectively showed the positive efficacy and safety of etoricoxib for PHO patients. © 2017 American Society for Bone and Mineral Research.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Clinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention

et al. 2017

Journal of Bone and Mineral Research

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“…There were also several reports of patients with pachydermoperiostosis treated with synovectomy [5]. With regard to an associated obvious synovitis and refractory elevated ESR and CRP, a synovectomy was carried out in our patient.…”

Section: Discussionmentioning

confidence: 66%

A complicated case of pachydermoperiostosis with spondyloarthritides: a case report

et al. 2013

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IntroductionPachydermoperiostosis is a rare, hereditary disease commonly presenting with digital clubbing, pachydermia and periosteal hypertrophy. Therapeutic options for pachydermoperiostosis are few because of the unknown pathogenesis. Here, we report the complicated case of a patient with pachydermoperiostosis combined with spondyloarthritides, who was refractory to steroids and tumor necrosis factor alpha antagonists. We treated this patient with zoledronic acid and performed an arthroscopic synovectomy, with a satisfactory outcome. To the best of our knowledge, this is the first report in English on the combination of zoledronic acid administration and synovectomy for the treatment of a patient with pachydermoperiostosis and spondyloarthritides.Case presentationAn 18-year-old Han Chinese man was diagnosed with pachydermoperiostosis in the presence of digital clubbing, periostitis and swollen limbs. Combined spondyloarthritides was also considered based on his lower back pain, lower limbs synovitis, bilateral sacroiliac sclerosis and a positive test for human leukocyte antigen B27, as well as immunoglobulin A nephropathy. He was refractory to steroids and tumor necrosis factor alpha antagonists, but treated with intravenous zoledronic acid and an arthroscopic synovectomy, with a satisfactory outcome.ConclusionThis is a rare, complicated case of pachydermoperiostosis with spondyloarthritides. Combination therapy of zoledronic acid administration with synovectomy is a novel, convenient and effective option for patients with pachydermoperiostosis with remarkable synovitis.

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“…It should therefore follow that reducing production of implicated prostaglandins would limit disease activity. Traditional non‐steroidal anti‐inflammatories have been tried but do not seem to improve the symptomatology associated with arthritis . A more recent description by Zhang and Yang have put forward etoricoxib as a therapeutic option, with the two patients described seemingly benefiting from this intervention .…”

Section: Discussionmentioning

confidence: 99%

A case of primary hypertrophic osteoarthropathy: Management considerations

Rostom

Javaid

2019

Int J of Rheum Dis

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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.

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A case of pachydermoperiostosis treated by oral administration of a bisphosphonate and arthroscopic synovectomy

Cited by 23 publications

References 8 publications

Clinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention

Clinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention

A complicated case of pachydermoperiostosis with spondyloarthritides: a case report

A case of primary hypertrophic osteoarthropathy: Management considerations

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