Two cases with pachydermoperiostosis and discussion of tamoxifen citrate treatment for arthralgia

Okten, Ay enur; Mungan, İlke; Kalyoncu, Mukaddes; Orbak, Zerrin

doi:10.1007/s10067-005-1161-2

Cited by 15 publications

(5 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…As with other rare diseases, evidence-based treatment options for PHO are limited due to the small number of patients. Before the discovery of its underlying causes, treatments were mostly focused on alleviation of symptoms, including nonsteroidal antiinflammatory drugs (NSAIDs), pamidronate and tamoxifen citrate to relieve painful osteoarthropathy [9], [10], [11], [12], botulinum toxin type A injection and plastic surgery to improve cosmetic appearance [13] and arthroscopic synovectomy and radiosynoviorthesis for the management of recurrent arthritis [14]. However, given the knowledge that PGE2 may play an important role in the pathogenesis of PHO, cyclooxygenase (COX) inhibition may serve as a potential therapeutic option [15].…”

Section: Introductionmentioning

confidence: 99%

Safety and efficacy of cyclooxygenase-2 inhibition for treatment of primary hypertrophic osteoarthropathy: A single-arm intervention trial

Yuan

Liao

Lin

et al. 2019

Journal of Orthopaedic Translation

View full text Add to dashboard Cite

Background Primary hypertrophic osteoarthropathy (PHO) is a rare disease involving joint, bone and skin. Two underlying genes responsible for this disease—hydroxyprostaglandin dehydrogenase ( HPGD ) and solute carrier organic anion transporter family, member 2A1 ( SLCO2A1 )—are both associated with aberrant accumulation of prostaglandin E2 (PGE2). Cyclooxygenase-2 (COX-2) is a key enzyme in PGE2 synthesis. This study was intended to evaluate the safety and efficacy of COX-2 inhibitor in the treatment of PHO. Methods We recruited patients presenting to Peking Union Medical Hospital between January 2009 and December 2016 who were diagnosed with PHO. Participants were given the COX-2 inhibitor etoricoxib (60 mg once daily) and followed up for 9 months. Gene analysis was performed at baseline. The following data were collected at baseline and during treatment: visual analogue score (VAS), volume of the distal middle finger (VDMF), knee joint circumference (KJC), serum and urinary levels of prostaglandin E2 (PGE2) and PGE metabolite (PGE-M) and serum levels of inflammatory markers. Results A total of 27 patients were recruited, including seven patients with PHO type I (PHOAR1) carrying HPGD gene mutations and 20 patients with PHO type II (PHOAR2) carrying SLCO2A1 gene mutations. After treatment with etoricoxib, the majority of patients experienced resolution of symptoms including pachydermia (60.9%), joint swelling (100%), digital clubbing (74.1%) and hyperhidrosis (55.0%). In both the PHO subtypes, serum and urinary levels of PGE2 were elevated at baseline and declined sharply upon treatment. For PHOAR1 patients, serum and urinary PGE-M levels were relatively low and demonstrated minimal response to COX-2 inhibition. Among PHOAR2 patients, mean serum and urinary levels of PGE-M presented at a high level at baseline and were normalized after 3 months of treatment. No severe adverse effects were reported during the study period. Conclusions We found COX-2 inhibitor to be safe and effective for the treatment of PHO in our cohort. The translational potential of this article The underlying genes responsible for PHO suggest COX inhibitor as potential therapy, and our study demonstrates the efficacy and safety of this treatment.

show abstract

Section: Introductionmentioning

confidence: 99%

Safety and efficacy of cyclooxygenase-2 inhibition for treatment of primary hypertrophic osteoarthropathy: A single-arm intervention trial

Yuan

Liao

Lin

et al. 2019

Journal of Orthopaedic Translation

View full text Add to dashboard Cite

show abstract

“…Up to now, no standard treatment has been approved for PHO due to the small number of patients with PHO at most clinical centers. There are some case reports with varying therapeutic option and response, and the treatments are mostly focused on alleviation of symptoms, including nonsteroidal anti-inflammatory drugs (NSAIDS), pamidronate and tamoxifen citrate to relieve painful osteoarthropathy (19, 20). Given that the increased circulating PGE 2 levels is responsible for pathogenic mechanism of PHO, cyclo-oxygenase (COX) inhibition may represent a targeted therapeutic option.…”

Section: Introductionmentioning

confidence: 99%

The first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation

Pang

et al. 2019

Endocrine Connections

View full text Add to dashboard Cite

Background Primary hypertrophic osteoarthropathy (PHO) is a rare genetic multi-organic disease characterized by digital clubbing, periostosis and pachydermia. Two genes, HPGD and SLCO2A1, which encodes 15-hydroxyprostaglandin dehydrogenase (15-PGDH) and prostaglandin transporter (PGT), respectively, have been reported to be related to PHO. Deficiency of aforementioned two genes leads to failure of prostaglandin E2 (PGE2) degradation and thereby elevated levels of PGE2. PGE2 plays an important role in tumorigenesis. Studies revealed a tumor suppressor activity of 15-PGDH in tumors, such as lung, bladder and breast cancers. However, to date, no HPGD-mutated PHO patients presenting concomitant tumor has been documented. In the present study, we reported the first case of HPGD-mutated PHO patient with soft tissue giant tumors at lower legs and evaluated the efficacy of selective COX-2 inhibitor (etoricoxib) treatment in the patient. Methods In this study, we summarized the clinical data, collected the serum and urine samples for biochemical test and analyzed the HPGD gene in our patient. Results A common HPGD mutation c.310_311delCT was identified in the patient. In addition to typical clinical features (digital clubbing, periostosis and pachydermia), the patient demonstrated a new clinical manifestation, a giant soft tissue tumor on the left lower leg which has not been reported in HPGD-mutated PHO patient before. After 6-month treatment with etoricoxib, the patient showed decreased PGE2 levels and improved PHO-related symptoms. Though the soft tissue tumor persisted, it seemed to be controlled under the etoricoxib treatment. Conclusion This finding expanded the clinical spectrum of PHO and provided unique insights into the HPGD-mutated PHO.

show abstract

“…Tamoxifen has been reported to improve arthralgia, sweating of hands, and gynecomastia. 14 Our patient persisted with systemic inflammatory manifestations, elevated acute phase tests, periostitis, and arthritis after having used anti-inflammatory drugs, glucocorticoids, colchicine, tamoxifen, and bisphosphonates. Thus, we decided to use infliximab and the patient had partial improvement.…”

Section: Discussionmentioning

confidence: 95%

Infliximab Treatment in Pachydermoperiostosis

Costa

Fialho

Zimmermann

et al. 2010

JCR: Journal of Clinical Rheumatology

View full text Add to dashboard Cite

Hypertrophic osteoarthropathy (HOA) is characterized by periostitis of tubular bones, thickened skin, and digital clubbing. Its pathogenesis is unknown but an inflammatory factor and increased bone remodeling have been implicated. It is a very rare disease, usually diagnosed late with few therapeutic options. Bone and joint pains are secondary to periostitis and are usually difficult to control. Tumor necrosis factor-alpha is a cytokine that induces other inflammatory cytokine production, has an osteoclastogenic effect in different rheumatic diseases and probably also has an important role in periostitis and the systemic inflammatory manifestations in HOA. We describe the case of a patient with the primary form of HOA, who had refractory bone pain and arthritis that responded partially to infliximab treatment.

show abstract

Two cases with pachydermoperiostosis and discussion of tamoxifen citrate treatment for arthralgia

Cited by 15 publications

References 8 publications

Safety and efficacy of cyclooxygenase-2 inhibition for treatment of primary hypertrophic osteoarthropathy: A single-arm intervention trial

Safety and efficacy of cyclooxygenase-2 inhibition for treatment of primary hypertrophic osteoarthropathy: A single-arm intervention trial

The first case of primary hypertrophic osteoarthropathy with soft tissue giant tumors caused by HPGD loss-of-function mutation

Infliximab Treatment in Pachydermoperiostosis

Contact Info

Product

Resources

About