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      Chronic Joint Pain in a Young Adult With Cystic Fibrosis

      case-report
      Author(s): 1 , , 2 , 3
      Editor(s): ,
      Publication date (Electronic, pub):
      Publication date (Electronic, collection):
      Journal: Cureus
      Publisher: Cureus
      Keywords: hypertrophic pulmonary osteoarthropathy, cystic fibrosis, cf associated joint pain, trikafta, homozygous f508 del mutation

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          Abstract

          A 25-year-old male with end-stage cystic fibrosis (CF) with genotype F508del/F508del presented to the clinic complaining of bilateral knee and ankle pain. He had severe lung disease (forced expiratory volume 1 {FEV1} 19% of predicted), chronic colonization with achromobacter, malnutrition, and CF-related diabetes. On physical examination, he was found to have bilateral knee swelling as well as pain on flexion and extension of the wrists and ankles without erythema or warmth. He was empirically started on prednisone and tramadol; however, at a three-month follow-up visit, he remained symptomatic. He was sent for a whole-body bone scan, which was consistent with hypertrophic pulmonary osteoarthropathy (HPOA). He was started on highly effective modulator therapy with elexacaftor/tezacaftor/ivacaftor and symptoms spontaneously resolved without further intervention.

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          Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy.

          Sandeep Uppal, Christine Diggle, Ian M. Carr … (2008)
          Digital clubbing, recognized by Hippocrates in the fifth century BC, is the outward hallmark of pulmonary hypertrophic osteoarthropathy, a clinical constellation that develops secondary to various acquired diseases, especially intrathoracic neoplasm. The pathogenesis of clubbing and hypertrophic osteoarthropathy has hitherto been poorly understood, but a clinically indistinguishable primary (idiopathic) form of hypertrophic osteoarthropathy (PHO) is recognized. This familial disorder can cause diagnostic confusion, as well as significant disability. By autozygosity methods, we mapped PHO to chromosome 4q33-q34 and identified mutations in HPGD, encoding 15-hydroxyprostaglandin dehydrogenase, the main enzyme of prostaglandin degradation. Homozygous individuals develop PHO secondary to chronically elevated prostaglandin E(2) levels. Heterozygous relatives also show milder biochemical and clinical manifestations. These findings not only suggest therapies for PHO, but also imply that clubbing secondary to other pathologies may be prostaglandin mediated. Testing for HPGD mutations and biochemical testing for HPGD deficiency in patients with unexplained clubbing might help to obviate extensive searches for occult pathology.
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            Vascular endothelial growth factor (VEGF)-A and platelet-derived growth factor (PDGF) play a central role in the pathogenesis of digital clubbing.

            Stephen N Atkinson, Gerard Fox (2004)
            Digital clubbing is associated with many unrelated serious diseases but its pathogenesis remains a clinical enigma. It has been hypothesized that platelet clusters impacting in the distal vasculature mediate the morphological changes of clubbing. Since the multifunctional cytokines vascular endothelial growth factor (VEGF) and platelet-derived growth factor (PDGF) are released on platelet aggregation and are hypoxically regulated, the present study has examined their role in clubbing using immunohistochemistry. Basic fibroblast growth factor (bFGF), transforming growth factor-beta 1 (TGF-beta1), microvessel density, carbonic anhydrase IX (CAIX), hypoxia inducible factor (HIF)-1alpha, and HIF-2alpha were also measured. There was a significant increase in VEGF (p = 0.01), pKDR (p = 0.03), PDGF (p = 0.017), and HIF-1alpha and HIF-2alpha (p = 0.004 and p = 0.004, respectively) expression together with a significant increase in microvessel density (p = 0.03) in the stroma in clubbed digits compared with controls. There was no difference in CAIX (p = 0.25), TGF-beta1 (p = 0.66) or bFGF (p = 0.18) between affected and control groups. These findings suggest that VEGF and PDGF are released after platelet impaction and that their expression is hypoxically enhanced in the stroma after capillary occlusion. VEGF may synergize with PDGF in inducing the stromal and vascular changes present in digital clubbing. Copyright 2004 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
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              Hypertrophic Osteoarthropathy: Clinical and Imaging Features.

              Felix Y Yap, Matthew R Skalski, Dakshesh Patel … (2016)
              Hypertrophic osteoarthropathy (HOA) is a medical condition characterized by abnormal proliferation of skin and periosteal tissues involving the extremities and characterized by three clinical features: digital clubbing (also termed Hippocratic fingers), periostosis of tubular bones, and synovial effusions. HOA can be a primary entity, known as pachydermoperiostosis, or can be secondary to extraskeletal conditions, with different prognoses and management implications for each. There is a high association between secondary HOA and malignancy, especially non-small cell lung cancer. In such cases, it can be considered a form of paraneoplastic syndrome. The most prevalent secondary causes of HOA are pulmonary in origin, which is why this condition was formerly referred to as hypertrophic pulmonary osteoarthropathy. HOA can also be associated with pleural, mediastinal, and cardiovascular causes, as well as extrathoracic conditions such as gastrointestinal tumors and infections, cirrhosis, and inflammatory bowel disease. Although the skeletal manifestations of HOA are most commonly detected with radiography, abnormalities can also be identified with other modalities such as computed tomography, magnetic resonance imaging, and bone scintigraphy. The authors summarize the pathogenesis, classification, causes, and symptoms and signs of HOA, including the genetics underlying the primary form (pachydermoperiostosis); describe key findings of HOA found at various imaging modalities, with examples of underlying causative conditions; and discuss features differentiating HOA from other causes of multifocal periostitis, such as thyroid acropachy, hypervitaminosis A, chronic venous insufficiency, voriconazole-induced periostitis, progressive diaphyseal dysplasia, and neoplastic causes such as lymphoma. ©RSNA, 2016.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Cureus
                Journal ID (iso-abbrev): Cureus
                Journal ID (issn): 2168-8184
                Title: Cureus
                Publisher: Cureus (Palo Alto (CA) )
                ISSN (Electronic): 2168-8184
                Publication date (Electronic, pub): 16 August 2021
                Publication date (Electronic, collection): August 2021
                Volume: 13
                Issue: 8
                Electronic Location Identifier: e17229
                Affiliations
                [1 ] Internal Medicine/Pediatrics, Maine Medical Center, Portland, USA
                [2 ] Pulmonary and Critical Care Medicine, Maine Medical Center, Portland, USA
                [3 ] Pulmonary Medicine, Maine Medical Center, Portland, USA
                Author notes
                Bhavini B. Prajapati bprajapati@ 123456mmc.org
                Article
                DOI: 10.7759/cureus.17229
                PMC ID: 8442824
                PubMed ID: 34540456
                SO-VID: e7402b38-1e83-4d9b-9833-7bdae7361cc4
                Copyright © Copyright © 2021, Prajapati et al.
                License:

                This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                Date accepted : 16 August 2021
                Categories
                Subject: Internal Medicine
                Subject: Pulmonology
                Subject: Rheumatology

                Keywords: hypertrophic pulmonary osteoarthropathy,cystic fibrosis,cf associated joint pain,trikafta,homozygous f508 del mutation
                Data availability:
                Keywords: hypertrophic pulmonary osteoarthropathy, cystic fibrosis, cf associated joint pain, trikafta, homozygous f508 del mutation

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