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Complement Factor D (adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer-Simons syndrome).

Fernando Corvillo1,2, Laura González-Sánchez1,2, Alberto López-Lera1,2

  • 1Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, 28046 Madrid, Spain.

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Elevated Complement Factor D (FD) levels are linked to Barraquer-Simons syndrome (BSS), a rare lipodystrophy. This study suggests FD may be a biomarker for BSS, indicating local complement activation in adipose tissue.

Keywords:
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Area of Science:

  • Immunology
  • Metabolic Disorders
  • Genetics

Background:

  • Barraquer-Simons syndrome (BSS) involves complement overactivation.
  • Complement Factor D (FD) is key in alternative pathway activation and synthesized by adipose tissue.
  • The role of FD in BSS pathogenesis remains unclear.

Purpose of the Study:

  • Investigate the role of Complement Factor D (FD) in Barraquer-Simons syndrome (BSS).
  • Determine if plasma FD concentration can serve as a diagnostic biomarker for BSS.
  • Explore the local expression of FD in adipose tissue of BSS patients.

Main Methods:

  • Measured plasma FD levels in BSS patients, other lipodystrophy cohorts, and healthy controls.
  • Analyzed gene expression (mRNA) of FD, C3, and C5 in adipose tissue from a BSS patient.
  • Performed immunohistochemistry on atrophied adipose tissue from a BSS patient.

Main Results:

  • Significantly elevated plasma FD levels were observed in BSS patients compared to controls (p < 0.001).
  • FD levels in BSS patients showed a strong positive correlation with age.
  • Adipose tissue analysis revealed decreased FD and C3 mRNA but increased C5 mRNA, with heightened FD staining in atrophied areas.

Conclusions:

  • Elevated plasma FD may serve as a diagnostic biomarker for BSS.
  • FD's role in BSS pathophysiology involves promoting local complement activation within adipose tissue.
  • Tissue damage in BSS correlates with increased local FD expression.