Abstract
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.
Highlights
Lipodystrophy syndromes are rare diseases characterized by a limited capacity of subcutaneous adipose tissue to store triglycerides, which results in metabolicDifferent entities accompanied by multiple lipomas have been described, including: Lemaitre et al Orphanet J Rare Dis (2021) 16:290 Syndromic lipomatosis, such as those encountered in type 1 Multiple Endocrine Neoplasia or certain genetically determined multiple lipomatosis [4]; Multiple symmetric lipomatosis, most often linked to alcohol (Madelung or Launois-Bensaude disease); Dercum’s disease, known as adiposis dolorosa or Ander’s syndrome; Mesosomatic lipomatosis (LMS), called RochLeri lipomatosis [5]; Hibernomas, epidural lipomatosis and familial angiolipomatosis.Of these lipomatous syndromes, LMS and Dercum’s disease, the diagnosis of which is clinical, remain poorly described
The number of women, and of baso‐ phils, and C D3+, CD4+ and CD8+ T lymphocytes was significantly higher in the Dercum’s disease (DD) versus the LMS group, without any difference of the metabolic parameters
Compared with the obese controls, basophils remained higher in DD and T lymphocytes subpopulations lower in LMS groups
Summary
LMS and Dercum’s disease, the diagnosis of which is clinical, remain poorly described. Isolated clinical cases or small studies aiming to report surgical treatment are mentioned in the literature [6,7,8,9]. Dercum’s disease* is a very rare disease characterized by multiple, painful subcutaneous lipomas, occurring mainly on the trunk, and the proximal part of the arms and legs [10, 11]. The pathophysiology of Dercum’s disease remains unknown various mechanisms have been suggested, such as autoimmunity, alterations in the metabolism of fatty acids, carbohydrates or hormones, previous infections [13] or abnormal lymphatic tissue [14]. In addition to other multiple lipoma syndromes, the differential diagnosis includes fibromyalgia and lipedema [18].
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