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. 2021 Jun 29;16(1):290.
doi: 10.1186/s13023-021-01920-3.

Metabolic and immunological phenotype of rare lipomatoses: Dercum's disease and Roch-Leri mesosomatic lipomatosis

Madleen Lemaitre  1   2 , Benjamin Chevalier  3   4 , Arnaud Jannin  3   4 , Kristell Le Mapihan  3 , Samuel Boury  5 , Georges Lion  5 , Myriam Labalette  6   4 , Marie-Christine Vantyghem  7   8   9
Affiliations

Metabolic and immunological phenotype of rare lipomatoses: Dercum's disease and Roch-Leri mesosomatic lipomatosis

Madleen Lemaitre et al. Orphanet J Rare Dis. .

Abstract

Context: Dercum's disease (DD) and Roch-Leri mesosomatic lipomatosis (LMS) are rare and poorly characterized diseases. The clinical presentation combines multiple lipomas, painful in DD in contrast with LMS, without lipoatrophy.

Objective: To identify any specific metabolic and immune phenotype of DD and LMS.

Design and patients: This monocentric retrospective study included 46 patients: 9 DD, 11 LMS, 18 lean and 8 obese controls. Metabolic and immunohematological characteristics of each group were compared.

Results: The median age of the patients was similar in the 3 groups (31 years). The number of women, and of basophils, and CD3+, CD4+ and CD8+ T lymphocytes was significantly higher in the DD versus the LMS group, without any difference of the metabolic parameters. Weight, BMI, blood pressure, gamma-GT, leptin, fasting insulin and C-peptide levels, fat mass percentage, and intra/total abdominal fat ratio were significantly higher in each lipomatosis group compared with the lean group. Compared with the lean group, the DD group had significantly higher fasting blood glucose, LDL-cholesterol, platelets, leukocytes, basophils, and a lower NK cell count, whereas the LMS group had a significantly lower rate of CD3, CD4, and CD8 lymphocytes. Compared with the obese controls, basophils remained higher in DD and T lymphocytes subpopulations lower in LMS groups.

Conclusion: DD and LMS show a common background of obesity and metabolic phenotype, but a distinct immunohematological profile characterized by a higher number of basophils in DD patients, an inflammatory profile that could contribute to pain. T lymphocyte depletion was present in LMS. These findings could offer specific therapeutic opportunities, especially for painful DD.

Trial registration: ClinicalTrials.gov NCT01784289.

Keywords: Basophil; CD3; CD4 (cluster differentiation 4); CD8; Dercum’s disease; Lipodystrophy; Lipomatosis; Natural killer; Roch-Leri; T lymphocyte.

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Conflict of interest statement

The authors declare that they have no competing interest.

Figures

Fig. 1
Fig. 1
Patient enrollment flow-chart and iconography. 1-I: flow chart.1-II: Iconography of Dercum’s disease and Roch-Leri lipomatosis: on the left, patient with Dercum's disease: multiple encapsulated lipomas disseminated on the thighs associated with a pain component (a). On the right, patient with Roch-Leri LMS: multiple encapsulated lipomas, painless, disseminated on the forearms (b)
See this image and copyright information in PMC

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