Madelung Disease
A woman with large fatty lumps was diagnosed with Madelung diseaseCopyright © 2016 by the BMJ Publishing Group Ltd

A woman has been diagnosed with Madelung disease – a condition linked to excessive alcohol consumption – which causes huge lumps of fat to develop all over the body. The woman, 64, admitted she had drunk large amounts of alcohol over the past 40 years, which ultimately caused the large fatty deposits to appear around her neck, upper back and arms.

The rare case was reported in the BMJ Case Reports journal, and it says that doctors from the Brooklyn Hospital Center were initially puzzled by the woman's symptoms, which included - as they describe it - large 'buffalo humps'. After analysing all of the patient's signs, they eventually took to the internet to help in diagnosing the case of Madelung disease, or lipomatosis as it is also known as.

Madelung disease is an extremely rare condition where the body cannot metabolise fat properly. It is believed that this is due to a defective enzyme or a change in cell shape within the body. This is enhanced by heavy alcohol consumption, as 90% of sufferers claim to have a history of alcohol abuse.

"Owing to its rarity, it is often difficult to recognise MLD [Madelung disease]," write the doctors in the report. "Our patient presented to the hospital due to hypoglycaemia [low blood sugar] and, during physical examination, was found to have abnormal fat distribution causing disfiguring aesthetic effects."

Madelung Disease
Madelung disease affects roughly one in 250,000 peopleCopyright © 2016 by the BMJ Publishing Group Ltd

Symptoms

Madelung Disease
CT scans of the lumps showed large deposits of fatCopyright © 2016 by the BMJ Publishing Group Ltd

They say that the American woman initially came to the hospital complaining of shakiness, light-headedness, fatigue, and an "altered mental status". She also said that she had been experiencing muscle weakness for around one year.

X-rays and CT scans showed clear evidence of fatty deposits in those areas. The woman then admitted she had known about this lumps, but they had not bothered her, so did not think much of it.

"On examination, the patient was not orientated to time, and there was bilateral muscle weakness in the lower extremities," the doctors said. "At first glance, we noticed multiple swellings all over the body – around the neck, upper back and upper extremities, which were peculiar to the medical team."

Treatment

Madelung Disease
The patient showed signs of Madelung disease on her arms, as well as her back and neckCopyright © 2016 by the BMJ Publishing Group Ltd

A quick internet search helped the medical team diagnose the disease, and they treated the patient with intravenous glucose to help restore her blood sugar to normal levels. Her mental health and sugar levels did eventually return to back to a baseline reading.

After diagnosis, the patient conceded she suffered from chronic alcoholism – an addiction to alcohol. She said she had been drinking heavily for 40 years, and the last drink she consumed was two weeks previous.

There is no current cure for MLD. However, the doctors said the best way to reduce the accumulation of fat in the lumps is to stop drinking alcohol altogether. They also offered the woman liposuction treatment to remove the lumps, but she declined the offer.

"Until now, there has been no definitive treatment, with very few options to offer these patients," write the medical team. "This case highlights the use of the internet as an aid to diagnosis, which can be helpful when a clinician is confronted with such a rare disease."

Roughly one in every 250,000 people suffer from MLD, with men being 15 times more at risk than women. It is usually found in people aged between 30 and 70 that have a history of alcohol abuse.