Madelungs disease

Description, Causes and Risk Factors: ICD-10: Q74.0 Alternative Names: Multiple symmetric lipomatosis, Madelung deformity, symmetric adenolipomatosis, Launois-Bensaude syndrome. Accumulation and progressive enlargement of collections of adipose tissue in the subcutaneous tissue of the head, neck, upper trunk, and upper portions of the upper extremities; seen primarily in adult males and of unknown cause. Madelung's disease is a rare condition characterized by massive symmetric deposit of non-encapsulated adipose tissue in the upper trunk, neck and head. It affects more often males aged 30-60 years, and is more common among residents of Mediterranean European countries. Although the etiology of Madelung's disease is unknown, the present cases confirm its strong association with alcoholism. In fact, alcohol intake of more than 80 g per day for at least 10 years, which has been found in up to 90% of cases described in literature. Alcohol might act as a cofactor in the development of lipomas in several ways. It may reduce the number of -adrenergic receptors, thus hindering the lipolytic effect of norepinephrine; it hampers -oxidation leading to decreased lipolysis and promotes lipogenesis. Besides a strong association with chronic alcoholism, frequently associated findings include metabolic diseases like diabetes mellitus, lipid disorders, and systemic disorders such as liver disease and hypothyroidism. Sensory, motor and autonomic polyneuropathy is noted in about 85% of patients, 80% of whom will develop a physical disability. The polyneuropathy occurs several years after the lipomas appear. Histologic studies show progressive axonal atrophy, which is in contrast to the demyelination and axonal degeneration produced by chronic alcohol intake. Symptoms: The symptoms are primarily those of disfigurement, although the patient may complain of interference with neck motion, difficulty in obtaining a proper fit with clothing, or (in some cases) respiratory difficulties. The fat deposits, once present, never spontaneously disappear, and the disease is usually progressive over a period of years. Although multiple cases have been reported in some families, most cases have been singular, with no evidence of hereditary predisposition. Diagnosis: Diagnosis is usually made by history and physical examination, and confirmed by sonography, computed tomography (CT) and fine needle aspiration (FNA) cytology. Grossly, the adipose deposits are firm, nontender, nonencapsulated, and they blend well into the surrounding subcutaneous fat. Microscopically, the fatty tissue is indistinguishable from other lipomatous tissue. Electron microscopy has not shown any significant characteristics. Treatment: Dietary management does not help and abstinence from alcohol may only prevent further progression of the size of the fat masses. Surgery is the other component of treatment. Surgery is performed mostly for symptomatic relief because many patients develop upper respiratory problems, including snoring, dyspnea, and dysphagia. Obstructive sleep apnea is common, while more serious complications, such as superior vena cava obstruction and sudden death, are rare but have been documented. Surgery may include lipectomy and liposuction. Liposuction allows surgery under local anesthesia in the patient with chronic alcoholism and possible liver lesions who are susceptible to hemorrhage. The use of ultrasound-assisted liposuction has also been reported. The location of the lipoma should be carefully considered before choosing one technique over another. Medical therapy and thyroid extracts, vitamins and salbutamol has not been proved to be effective. NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.  

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