We present the case of a 49 year old Caucasian lady who was referred for urgent evaluation to rule out Cushings syndrome. She had progressive increase in bulk of her shoulders and upper arms over several months. She had a history of asthma, hypertension, and alcohol excess. She had inadvertently been using fostair (steroid inhaler) as a reliever up to 10 times a day. She denied anabolic steroid or drug use. She had no clinical features of Cushings syndrome. There was no history of diabetes, osteoporosis or proximal myopathy.
Investigations: Investigations revealed low 24 h urinary cortisol of <25 nmol/24 h (N= 30−145 nmol/l), likely due to high dose inhaled steroids. Her short synacthan test, HbA1c and lipid profile was normal. Due to her unusual presentation, a diagnosis of partial lipodystrophy was considered and she was referred to Addenbrokes hospital for further tests. DXA measured the hypertrophied areas to be fat. She awaits results of genetic tests.
Discussion: The hypertrophy of upper trunk was due to symmetrical fat deposition confirmed on DXA test. A diagnosis of multiple symmetric lipomatosis (MSL or Madelungs disease) was made. Madelungs disease is a disorder of fat metabolism (lipid storage) that results in unusual fat accumulation around the neck and shoulder areas. The rest of the body may be lean in contrast to the affected parts. Peripheral neuropathy, diabetes mellitus, hypertension, and liver disease can be associated with MSL. MSL can rarely be associated with genetic mutation in MFN2 gene or a mitochondrial disorder. In our patient, MSL is likely due to alcohol excess. Genetic test results are awaited. We have advised her to limit alcohol use and inhaled steroid use to twice daily. If her symptoms are progressive, we will refer her to the plastic surgeons for consideration of liposuction.