Multiple Symmetric Lipomatosis: A Cross-Sectional Study to Investigate Clinical Features and Patients’ Quality of Life

Daniel Schiltz,Stephan Schreml,Alexandra Anker,Karolina Mueller,Michael Koller,Oliver Felthaus,Julia Schreml,Christine Ortner,Sebastian Tschernitz,Lukas Prantl

doi:10.3390/sym13101823

Daniel Schiltz, Stephan Schreml + Show 8 more

Open Access

https://doi.org/10.3390/sym13101823

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Abstract

Within the subcutaneous adipose tissue diseases, multiple symmetric lipomatosis (MSL) (syn.: Launois Bensaude Syndrome, Morbus Madelung, benign symmetric lipomatosis) is rare. The pathogenesis of MSL remains unclear. We investigated the largest German cohort of MSL patients to obtain anamnestic data and quality of life with a standard questionnaire. Twenty-nine patients with confirmed MSL were included and filled in a questionnaire designed for this study. The questionnaire assessed common anamnestic factors, such as quality of life (EQ-5D-3L) and subjective treatment goals and success (“Patient-Benefit-Index-Lymphedema”, PBI-L). The gender distribution of the patients involved in the study was m/f: 1/4 (male: n = 6 (21%); female n = 23 (79%)). While the exact pathophysiology of MSL remains unclear, a subset of patients’ positive family history suggests a strong genetic factor, sometimes compatible with autosomal dominant inheritance. Patients with MSL showed lower health states (EQ VAS Score: m = 51, sd = 24, range = 0–90) than the German norm population (m = 77). Around two thirds (68%) of patients reported relevant benefits of therapy (liposuction/lipectomy). In our cohort about one third of the patients reported a positive family history for MSL-like features. Additionally, at least in some patients, a strong genetic factor, compatible with autosomal dominant inheritance, seems a possible major driver of MSL development. Alcohol consumption and MSL development has to be regarded as a controversial issue. Patients suffering from MSL have a clear decrease in quality of life and a marked wish for treatment.

Highlights

Within the family of subcutaneous adipose tissue diseases, multiple symmetric lipomatosis (MSL) is rare
In order to see if volume increase primarily affects the abnormal areas of fat in MSL patients, we compared the 29 patients under study here to the 33 patients whose phenotype we investigated before (3) because these patients were all out of the same cohort of 45 MSL-patients
Estrogens are currently discussed to be involved in the pathogenesis of other subcutaneous adipose tissue diseases such as lipedema [32]

Summary

Introduction

Within the family of subcutaneous adipose tissue diseases, multiple symmetric lipomatosis (MSL) (syn.: Launois Bensaude Syndrome, Morbus Madelung, benign symmetric lipomatosis) is rare. It is defined as a symmetric disorder of non-encapsulated adipose tissue growth [1] with a prevalence indicated as 1:25,000 [2,3]. A newer and more precise classification recently published by our research team [3] characterizes five types of MSL (Figure 1). A newer and more precise classification recently publis2hoefd13by our team [3] characterizes five types of MSL (Figure 1). Patient-Reported Outcomes To assess quality of life, the “EQ-5D-3L” [26] was included in the questionnaire. Scoring was done according the official PBI guidelines [29]

Clinical Information

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EQ-5D-3L

Discussion

Conclusions