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Case Reports
. 2025 Jan;36(1):e70026.
doi: 10.1111/pai.70026.

Perilipin-1 autoantibodies are a robust marker of acquired lipodystrophy and may precede clinical detection

Clément Triaille  1   2 , Fernando Corvillo  3 , Ann Mertens  4   5 , Ilse Hoffman  6 , Tania Roskams  7 , Margarita López-Trascasa  3   8 , Lien De Somer  1 , Kristina Casteels  9   10
Affiliations
Case Reports

Perilipin-1 autoantibodies are a robust marker of acquired lipodystrophy and may precede clinical detection

Clément Triaille et al. Pediatr Allergy Immunol. 2025 Jan.
No abstract available

Keywords: acquired general lipodystrophy; anti‐PLIN1 antibodies; autoimmune hepatitis; autoimmune lipodystrophy; autoimmunity; perlipin1.

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Conflict of interest statement

The authors have no competing interest to disclose in relationship with the present manuscript.

Figures

FIGURE 1
FIGURE 1
(A) Clinical photographs of patient 1 at the age of 5 years showing features of lipodystrophy: subcutaneous fat loss, muscular aspect of the lower limbs, and phlebomegaly. (B) Confocal microscopy analysis of mouse preadipocytes revealed colocalization of PLIN1 and anti‐PLIN1 IgG and IgM on the surface of lipid droplets. DNA was stained with 4′,6‐diamidino‐2‐phenylindole (DAPI, blue); IgG binding was detected with FITC‐conjugated rabbit anti‐human IgG or FITC‐conjugated rabbit anti‐human IgM (green); PLIN1 was detected with biotin‐labeled rabbit IgG followed by Texas Red‐labeled streptavidin (red). Scale bars correspond to 20 μm.
FIGURE 2
FIGURE 2
(A) Clinical photographs of patient 2, shortly after diagnosis of type 1 diabetes (left panels) and 3 months later (right panels), with severe loss of adipose tissue in the lower limbs and the back. (B) Confocal microscopy analysis of mouse preadipocytes revealed anti‐PLIN1 IgG autoantibodies in the patient in a sample 3 months before (sample 1) and after (sample 2) the onset of lipodystrophy. DNA was stained with 4′,6‐diamidino‐2‐phenylindole (DAPI, blue); IgG binding was detected with FITC‐conjugated rabbit anti‐human IgG or FITC‐conjugated rabbit anti‐human IgM (green); PLIN1 was detected with biotin‐labeled rabbit IgG followed by Texas Red‐labeled streptavidin (red). Scale bars correspond to 20 μm.
See this image and copyright information in PMC

References

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    1. Corvillo F, Aparicio V, Lopez‐Lera A, et al. Autoantibodies against perilipin 1 as a cause of acquired generalized lipodystrophy. Front Immunol. 2018;9:2142. - PMC - PubMed
    1. Corvillo F, Abel BS, Lopez‐Lera A, et al. Characterization and clinical Association of Autoantibodies against Perilipin 1 in patients with acquired generalized lipodystrophy. Diabetes. 2023;72(1):71‐84. - PMC - PubMed
    1. Mandel‐Brehm C, Vazquez SE, Liverman C, et al. Autoantibodies to Perilipin‐1 define a subset of acquired generalized lipodystrophy. Diabetes. 2023;72(1):59‐70. - PMC - PubMed
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