Benign Symmetric Lipomatosis
What is it?
Madelung’s disease has been described as a rare metabolic condition in which the accumulation and progressive enlargement of multiple collections of adipose tissue occur in the subcutaneous tissue of the neck, upper arms, and shoulder area.
This unusual condition can spread toward the scrotal region and cause vascular compression as well as tracheal and bronchial obstruction. (Otto W. Madelung first described this disorder as ‘fat neck’ in 1888.) The patient may present with a ‘pseudo-athletic’ build. However, the characteristic masses are doughy on palpation which distinguishes them from truly hypertrophied muscles. When well-developed, these masses render neck movement and breathing more difficult.
The exact cause of this disease is unknown, but it may occur as a complication of alcoholism and/or diabetes. In some cases, changes in the DNA (mutations) in mitochondria have been found. Adult alcoholic males are most often affected, although women and those who do not drink alcohol can also get Madelung’s disease. The disease usually presents itself between 30-60 years of age. Since the condition does seem to manifest itself during mid-life, it is worth considering that many men and women presenting with this condition may have had their medical complaints dismissed as psychosomatic, or possibly simply manifestations of menopause.
The main symptoms of Madelung’s Disease are an enlarged neck, enlarged shoulders, reduced neck mobility, weight gain, and possibly, neck pain. Oddly enough, a patient may first notice the disease in that he cannot button the collar of his shirt- and then discovers a large diffuse mass in the back of his neck.
Madelung’s presents with lipomatous masses which are highly vascular, have a rubbery consistency and a propensity for manifesting their presence on the left side of the body prior to the right. The areas around the head and neck are the primary sites with those on the torso developing later as the condition progresses. Occasionally, the extremities are involved, usually the upper arm and upper leg. In some instances the lower arm on the anterior surface is involved. Rarely if ever are the fatty masses seen below the knee.
Some of the other physical symptoms aside from the peculiar weight distribution include: neurological problems in the upper and lower extremities, including weakness, and areas of anesthesia (decreased sensory feeling) and paresthesias (strange sensations as if something were crawling over the skin, or burning liquid were running down an extremity;) as well as autonomic nervous system manifestations such as unusual flushing and sweating (particularly after eating,) wide fluctuations in blood pressure and heart rate, adult onset asthma, glucose intolerance, gastrointestinal problems (particularly nocturnal diarrhea), and foot problems such as ulcers on the plantar surface of the foot or spontaneous fractures of small bones.
Because of the symmetry of the masses, a regular physical exam may not identify the condition. The location of the masses, a history of weight gain, even in a reduced calorie intake, extreme fatigue and muscle achiness, unexplained pain over the muscles, hypersensitivity to touch or minor trauma, weakness of the extremities and severe unexplained cramping over the sites where the lipomatous masses most commonly occur should be indicators to health professionals that there is reason for further investigation.
Lab tests tend to fall within the normal ranges. Imaging studies such as CAT scan and MRI (in particular) may show the presence of the masses. A biopsy of one of the fatty masses along with the underlying muscle tissue, and the identification of the specific pathology in both, can be helpful in confirming a diagnosis.
Because there may be other systemic manifestations as a part of this condition, several specialists may be involved. Often medical test results are not shared among specialists, leaving the patient in a frustrating situation. The patient feels ill, has growths on his body, has gained weight with no diet change, and may be physically weak- all with no firm medical diagnosis. The patient then ends up stressed, suffering psychologically.
The condition is associated with a high degree of morbidity and about a 10% risk of sudden death by asphyxiation.
Support for Madelung’s Disease patients is lacking. We need to spread awareness of this condition to both the medical community and the general public. The disease needs to be more readily recognized by health professionals in order for patients to garner not only the validation of a medical diagnosis, but also effective treatment options.
Currently, there are a few online support groups that do offer support to Madelung’s Disease patients.
Currently there is no cure for Madelung’s Disease and the cause of the disease is unknown. Many physicians have not heard of this condition. The course of treatment of Madelung’s disease has been undefined and likewise, unsatisfactory. Diet control, weight loss and cessation of alcohol consumption basically have no effect on the masses and their growth. Surgical excision and/or removal of the growths are usually impractical due to the large size and location(s) of the masses. Liposuction has worked well for some patients, but may need to be performed multiple times. There is often a recurrence of the lipomatous masses after liposuction and excision. A Madelung’s Disease patient’s prognosis depends on the size, location, and extent of the infiltration of the masses or growths.
There have been no studies to date that address the effect of this disease on life expectancy. More research needs to be done on Madelung’s Disease and we hope the medical research community will take note.