Familial Multiple Lipomatosis

What is it?

Familial Multiple Lipomatosis (FML) is a hereditary condition with a proposed autosomal-dominant inheritance in which groups of fat cells in the subcutaneous tissues begin to grow and produce multiple fatty lumps underneath the skin. These fatty lumps are benign fatty tumors or lipomas.

FML was first described in 1857 by Murchison and is a rare disorder that tends to run in families. FML affects both men and women.

Symptoms

The main symptoms of FML are the lipomas that appear on the arms, thighs, abdomen, and neck of the patient. (The lipomas can also occur on the face and buttocks and lower legs as well.) The head and shoulders are usually spared. The presentation of this disease is rather variable. These lipomas occur in subcutaneous fat, can vary widely in size, can be surrounded by connective tissue or not, and may or may not be attached to the skin and other nearby structures including muscle. They are rubbery, moveable, and ovoid to round in shape. The lipomas in FML are not normally painful, unless they are located in a regularly irritated area. They can appear singularly or may be in large clusters. The lipomas typically appear during or soon after adolescence, although FML has also been reported to appear at the third decade. Usually a family history of multiple lipomas does exist.

Support

In extreme cases, if neglected, these fatty lumps can grow to a large size and can make the patient appear grotesque. These lipoma clusters may not only interfere with the patient’s mobility and movement, but can cause disfigurement. Likewise, consideration, understanding and support from family, friends and the medical community is very important to the well being of those afflicted with FML.

There are online support groups for patients suffering from FML.

Treatments

Surgical excision, endoscopic removal or liposuction are the only treatments for FML at this time.  When removed, the lipomas are firm and securely attached to connective tissue.

Research

The etiology of this disease is poorly understood and there has been little research done since this disease is rarely fatal. Current research seems to focus on how to limit scarring from excisions.  No evaluation of DNA from families with FML has been undertaken to date.

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