After going to the emergency room with general weakness, low blood sugar and an alternated mental state, a 64-year-old American woman was diagnosed with a rare metabolic disease that may be associated with chronic alcoholism. The woman had unique characteristics of Madelung’s disease, which included fatty lumps distributed over her upper body.

In a case report published February 5 in BMJ Case Reports, the unidentified Caucasian woman is described as having consumed an unspecified amount of liquor for more than 40 years, with her last alcohol intake being two weeks earlier. She had multiple swellings all over her body— around the neck, upper back and upper extremities— which she had for at least five years. CT scans showed she had increased fat accumulation in those areas, but she told doctors that they never bothered her.

Blood tests showed the patient had ketoacidosis, a serious metabolic condition where the body produces excess blood acids.

Doctors diagnosed the woman with Madelung’s disease (MLD), a rare metabolic condition that is usually more common in men in their 30s through 60s.  The disease is associated with chronic alcoholism, diabetes mellitus, lipid disorders, liver disease and Mediterranean ancestry.

The patient was released from the hospital after being treated for low blood sugar, but as there is no definitive treatment for MLD, she agreed to stop drinking alcohol and start taking daily supplemental vitamins.

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