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

Orphanet Journal of Rare Diseases

Kristell Le Mapihan¹  Marie-Christine Vantyghem²  Madleen Lemaitre³  Benjamin Chevalier³  Arnaud Jannin³  Myriam Labalette⁴  Georges Lion⁵  Samuel Boury⁵ 

[1] Endocrinology, Diabetology and Metabolism, CHU Lille, 59000, Lille, France;Endocrinology, Diabetology and Metabolism, CHU Lille, 59000, Lille, France;Inserm U1190, 59000, Lille, France;Univ. Lille, 59000, Lille, France;Endocrinology, Diabetology and Metabolism, CHU Lille, 59000, Lille, France;Univ. Lille, 59000, Lille, France;Institute of Immunology, CHU Lille, 59000, Lille, France;Univ. Lille, 59000, Lille, France;Nuclear Medicine Department, CHU Lille, 59000, Lille, France;

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

DOI  :  10.1186/s13023-021-01920-3

来源: Springer

【 摘 要 】

ContextDercum’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.ObjectiveTo identify any specific metabolic and immune phenotype of DD and LMS.Design and patientsThis 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.ResultsThe 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.ConclusionDD 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.

【 授权许可】

CC BY