Familial Multiple Lipomatosis (FML)
The etiology of Familial Multiple Lipomatosis (FML) is poorly understood. FML was first described in 1857 by Murchison(1) and is a rare disorder that tends to run in families. It is most likely an autosomal dominant disorder(2) and is seen in men and women(3).
The cardinal symptoms of FML are:
- Global lipomas while usually sparing the head and shoulders
- Face and neck may present with lipomas
- Lipomas occur in subcutaneous fat
- Lipomas may be located in connective tissues
- Lipomas may be attached to skin, muscle or other nearby structures
- Palpate as rubbery, moveable, and ovoid to round in shape
- Lipomas are not normally painful unless regularly irritated
- May appear singularly or in clusters
- Some extreme cases result in large growth of lipomas
- Progression to disfigurement, impaired mobility and disability can result
Currently, treatment protocols include surgical excision, endoscopic removal or liposuction of lipomas and surrounding subcutaneous fat. Pain management may be offered to those patients who have advanced growths and resulting mobility issues. Patients should be made aware of online support groups for family members and patients with FML.
Several case studies and few research studies have been completed. There have been only a few small scale familial DNA studies undertaken to date. The general consensus is that, “Familial Multiple Lipomatosis is rare. Several modes of inheritance have been proposed but no conclusive evidence shown, although some families have suggested autosomal dominant inheritance.”(4)
1. Murchison, C. Cases of hereditary, muItipIe, fatty tumors. . Edinburgb M. J. 2, 1091
2. Korn-Heydt, G. E. (1969) Aplasien, hyperplasien, Tumoren. 4. Lipome. In Handbuch der Haut-und Geschlechtsktrankheiten Erganzungswerk (Jadassohn, J., ed) Vol. VII pp. 582-585, Springer, Berlin
3. Ersek, R. A., Lele, E., Surak, G. S., Denton, D. R., and McCue, K. (1989) Hereditary progressive nodular lipomatosis: a report and selective review of a new syndrome. Ann Plast Surg. 23, 450-455.
4. Lee CH, Spence RA, Upadhyaya M, Morrison PJ.(2011) Familial multiple lipomatosis with clear autosomal dominant inheritance and onset in early adolescence. BMJ Case Rep. 2011 Feb 17;2011. pii: bcr1020103395. doi: 10.1136/bcr.10.2010.3395.