Multiple Symmetric Lipomatosis

Multiple symmetric lipomatosis (MSL), also known as Madelung’s disease is a rare disease first described by Brodie in 1846.  The classical description of the disease is attributed to Launois and Bensaude who published a detailed account of 65 cases in 1898.  The literature was originally dominated by research on alcoholic men with a reported incidence of 1/25,000 in the Italian population.  However, people who are non-alcoholic and women are also affected; rare cases have been reported in children.

Individuals with MSL have increased fat, usually in a symmetrical distribution either on the neck, upper back (buffalo hump) or interscapular region, on the upper arms or chest, in the mediastinum or thighs, usually sparing the distal limbs. The appearance and location of the lipomatosis can vary so has been divided into three types: Type I or diffuse lipomatosis of the neck and upper back; Type II or a rare type with preponderance of the lipomatosis in the thigh girth (‘gynecoid type’); and Type III or multiple symmetric lipomata of the shoulder girdle, the upper arms, the thorax, the thighs and sometimes the abdomen giving the patients the so called ‘pseudoathletic’ appearance.(1)  Women tend to have Type II and III.  MSL may also involve the tongue.(2)

Associated disorders include liver disease, hyperlipidemia including elevated high-density lipoprotein (HDL) levels (in patients with a history of alcohol use), hypertriglyceridemia, hypothyroidism, diabetes mellitus, and neurological changes.

The pathophysiology of MSL is largely unknown but stem cells in the fat tissue ae thought to be important.(3)  A mutation in the MFN2 gene (mitofusion 2) gene has been found for people with MSL with a lipodystrophy (fat loss) of the limbs combined with Type I MSL.  The MFN2 mutation causes Charcot Marie Tooth disease.(4)

Treatment for MSL is limited to surgery. Liposuction achieved good cosmetic results for patients with MSL and is simpler and less invasive than lipectomy, in one review of the literature, but clinical experience is limited.(5)  Anecdotal reports of plant-based diets helping to maintain surgical removal of the tissue have been reported by patients.

References

1. Schiltz D, Anker A, Ortner C, Tschernitz S, Koller M, Klein S, et al. Multiple Symmetric Lipomatosis: New Classification System Based on the Largest German Patient Cohort. Plast Reconstr Surg Glob Open. 2018;6(4):e1722. doi: 10.097/GOX.0000000000001722. eCollection 2018 Apr.

2. Calvo Hernadez LM, Riol López E, Peña Ferrera L, Apolinario Hidalgo R. [Macroglossia in Madelung’s disease]. Med Clin (Barc). 2016;147(10):e59. Epub 2016/06/04 06:00. PubMed PMID: 27255987.

3. Prantl L, Schreml J, Gehmert S, Klein S, Bai X, Zeitler K, et al. Transcription Profile in Sporadic Multiple Symmetric Lipomatosis Reveals Differential Expression at the Level of Adipose Tissue-Derived Stem Cells. Plast Reconstr Surg. 2016;137(4):1181-90. Epub 2016/03/29 06:00. PubMed PMID: 27018673.

4. Sawyer SL, Cheuk-Him Ng A, Innes AM, Wagner JD, Dyment DA, Tetreault M, et al. Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy. Hum Mol Genet. 2015;24(18):5109-14. doi: 10.1093/hmg/ddv229. Epub 2015 Jun 17.

5. Chen CY, Fang QQ, Wang XF, Zhang MX, Zhao WY, Shi BH, et al. Madelung’s Disease: Lipectomy or Liposuction? Biomed Res Int. 2018;2018:3975974.(doi):10.1155/2018/3975974. eCollection 2018.

multiple symmetric lipomatosis

Photo: PRS Global Open – 2018