Hypertrophic Osteoarthropathy

Epidemiology

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Etiology

Primary (Idiopathic) Hypertrophic Osteoarthropathy (Pachydermoperiostosis, Touraine-Solente-Gole Syndrome)

  • Hereditary Disorder Which Presents in Childhood
  • Similar Clinical Features to that of Secondary Hypertrophic Osteoarthropathy

Secondary Hypertrophic Osteoarthropathy

Pulmonary

  • Cystic Fibrosis (CF) (see Cystic Fibrosis, [[Cystic Fibrosis]])
  • Lung Cancer (see Lung Cancer, [[Lung Cancer]])
    • Epidemiology
      • Most Commonly Associated with Adenocarcinoma Histology in Lung Cancer
      • Less Frequently Associated with Small Cell Lung Cancer
  • Pulmonary Infection

Other

  • Arterial Vascular Prosthetic Infection
    • Epidemiology: rare etiology
    • Clinical
      • Clubbing or Periosteal New Bone Formation Isolated to a Single Upper Extremity: in cases with an upper extremity arterial prosthetic
      • Clubbing or Periosteal New Bone Formation in Unilateral Lower Extremity: in cases with an arterial graft to the lower extremity
      • Clubbing or Periosteal New Bone Formation in Bilateral Lower Extremities: in cases with an aortic prosthetic graft
  • Cirrhosis (see End-Stage Liver Disease, [[End-Stage Liver Disease]])
    • Epidemiology: uncommon etiology
  • Hodgkin’s Disease (see Hodgkin’s Disease, [[Hodgkins Disease]])
    • Epidemiology: uncommon etiology
  • Right-to-Left Intracardiac Shunt

Physiology

  • Abnormal Proliferation of the Skin and Osseous Tissue at the Distal Parts of the Extremities
    • Clubbing and Hypertrophic Osteoarthropathy are Different Clinical Manifestations of the Same Disease Process
    • Pathogenesis Involves Activation of the Platelet-Endothelial Cells, with Subsequent Release of Fibroblast Growth Factor (Platelet-Derived Growth Factor)

Pathogenesis of Primary Hypertrophic Osteoarthropathy

  • Elevation in Circulating Prostaglandin E2 Due to Mutation in the HPGD gene Which Encodes 15-Hydroxyprostaglandin Dehydrogenase: this is the primary enzyme responsible for prostaglandin degradation

Pathogenesis of Secondary Hypertrophic Osteoarthropathy Associated with Lung Cancer (Possible Mechanisms)

  • Megakaryocytes May Escape the Normal Fragmentation to Platelets in the Lung, Reaching the Distal Extremities Where they Release Growth Factors
  • Tumor Production and Release of a Factor Which Induces the Manifestations of Hypertrophic Osteoarthropathy (Such as Vascular Proliferation, Edema Formation, and New Bone Formation)
  • Possible Increase in PGE2 (Similar to that Observed in Primary Hypertrophic Osteoarthropathy)
    • In Cystic Fibrosis: serum prostaglandin concentrations are higher in those with clubbing compared with those without clubbing
    • Unresectable Lung Cancer: overproduction of PGE2 has been demonstrated

Diagnosis

X-rays of Long Bones (Tibia, Fibula)

  • Demonstrates Characteristic Periosteal New Bone Formation

PET Scan (see Fluorodeoxyglucose-Positron Emission Tomography, [[Fluorodeoxyglucose-Positron Emission Tomography]])

  • Demonstrates Diffuse Uptake by the Long Bones

Bone Scan (see Bone Scan, [[Bone Scan]])

  • Demonstrates Diffuse Uptake by the Long Bones

Clinical Manifestations

Rheumatologic Manifestations

  • Clubbing (see Clubbing, [[Clubbing]])
  • Painful Arthropathy
    • Epidemiology
      • May Occur in Some Cases: mimicking an inflammatory arthritis
      • May Precede the Onset of Clubbing
    • Most Commonly Involved Joints
      • Ankles
      • Elbows
      • Knees
      • Wrists
    • Less Commonly Involved Joints
      • Metacarpal Joints
      • Metatarsal Joints
      • Phalangeal Joints
  • Periostosis of Tubular Bones: usually associated with pain on palpation of the involved area
  • Synovial Effusions (see xxxx, [[xxxx]]): most prominent in the large joints

Treatment

Analgesia

Bisphosphonates (see Bisphosphonates, [[Bisphosphonates]])

  • Agents
  • Clinical Efficacy
    • Highly Effective (Per Case Reports) in Refractory Cases

Treatment of Primary Disorder

  • Lung Cancer Resection, etc: usually results in regression of symptoms, but is not always effective

References

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