Madelung’s disease is a disease of unclear etiology, which is characterized by a progressive proliferation of fatty tissue in the neck. Multiple, symmetrically located lipomas develop on the shoulders, antero-lateral and posterior surfaces of the neck, upper back. Pronounced fat pillows are formed in the clavicle area, in the projection of the deltoid muscles and along the upper third of the back. Neck stiffness is gradually increasing, swallowing and breathing are difficult. The diagnosis is made on the basis of the clinical picture of the disease and the biopsy data. Surgical treatment is carried out for cosmetic purposes and to eliminate the symptoms of compression of vital organs.
E88.8 Other specified metabolic disorders
Madelung’s disease – multiple benign lipomatosis, diffuse neck lipoma, diffuse symmetrical lipomatosis, Lonois-Bansoda syndrome. The first descriptions of cases of the disease in the scientific literature date back to 1848. 40 years later, the famous German surgeon Otto von Madelung published a review of 33 cases of the disease. Benign lipomatosis is a rare pathology. It is diagnosed in men and women over the age of 30. The ratio of male and female patients is 15:1 – 30:1. Most patients have an alcoholic history.
Currently, about 300 cases of Madelung’s disease have been described, which is clearly not enough to reliably establish the mechanism of pathology development. Most observations do not contain information that allows us to judge the conditions in which the disease manifested. The four most probable causes of lipid metabolism disorders in patients with benign lipomatosis are considered:
- Genetic predisposition. The predominant type of inheritance is autosomal dominant. With him, the carrier of the defective gene suffers from pathology himself and passes it on to half of his descendants. Boys and girls get sick equally often. Family cases of Madelung’s disease caused by mutations of mitochondrial DNA, in which the disease is transmitted through the female line to children of both sexes, are described.
- Dysfunction of nerve centers. The genesis of diffuse symmetrical lipomatosis is a violation of neuro-trophic effects on adipose tissue. The defeat of the nervous system as a result of injury or intoxication leads to a violation of the balance of hormones of the endocrine glands, which affects the metabolism of lipids in the body in an unfavorable way.
- Cervical lymph node disease. A number of researchers believe that the appearance of lipomas is a consequence of adenoliposis. The defeat of the lymph nodes proceeds with the gradual replacement of lymphoid tissue with adipose tissue. Adenoliposis mainly affects superficially located lymph nodes and develops symmetrically on both sides of the body.
- Chronic alcoholism. Madelung’s disease is diagnosed mainly in men who abuse alcoholic beverages. Cases of pathology detection in children and non-drinking women are described, but the number of these cases is negligible. Alcohol, according to a number of researchers, becomes the “trigger” factor that allows the patient’s genetic predisposition to be realized.
Among the predisposing factors for the development of symmetrical lipomatosis are the presence of excess weight, physical inactivity, the predominance of fats in the diet with a pronounced protein deficiency, eating mainly in the evening and at night. The active deposition of acetylglycerols in fat depots is facilitated by an insufficiently high level of the thyroid hormone triiodothyronine, the growth of brown adipose tissue.
There are two main theories of the development of Madelung’s disease. According to the first, there is an accumulation of embryonic brown fat in the lipoma area. The second suggests the presence of a defect of adrenergically stimulated lipolysis. At the same time, dissociating proteins-1 begin to be expressed on the surface of stem fat cells of lipomas by analogy with brown adipose tissue. The concentration of these proteins does not increase in response to the action of catecholamines, despite the presence of adrenoreceptors in the cell membrane.
The increase in the concentration of catecholamines does not affect the process of fat breakdown in lipoma cells, does not stimulate the expression of the enzyme nitric oxide synthase. At the same time, nitric oxide donors inhibit the division of fat cells forming lipoma, selectively inhibit proliferation stimulated by nitric oxide synthase.
All cases of diagnosed Madelung’s disease can be divided on the basis of local and systemic lesions. However, it is impossible to exclude the possibility that, having begun as a local process, the disease will not acquire a systemic character under the influence of provoking factors. Given the location of lipomas on the body, there are three main types of disease:
- Type I. It occurs in the vast majority of cases (about 70%). Lipomas are located in the occipital and cervical regions, forming an isolated thickening in the form of a “yoke”.
- Type II. A systemic lesion in which lipomas are located symmetrically on the entire surface of the body. The shoulder girdle, chest, hips, abdomen are affected. In some cases, the location of hypertrophied fat deposits visually creates a pseudo-athletic silhouette (this is the so-called pseudo-athletic syndrome).
- Type III. A rare gynecoid type in which most lipomas are formed in the hip area.
The first signs of pathology in different patients may differ significantly. In most cases, the onset of the disease is associated with the growth of the fat layer in the occiput or at the same time the occiput and the anterior-lateral areas of the neck. The fat cushion descends towards the 7th cervical vertebra, fills the supraclavicular areas, spreads to the upper back, forming a noticeable “bullish” hump. The ring-shaped lipoma grows slowly, but over the years it can reach a thickness of 15 cm and a weight of 6-8 kg.
The second common variant is the development of multiple lipomas on the sides of the neck or throughout the trunk. Lipomas have a soft-elastic consistency, fuzzy contours due to the absence of a connective tissue capsule. The adipose cells easily shift relative to the unaltered skin covering them and the underlying tissues. Having appeared once, such seals can exist for decades until, under the influence of provoking factors, they turn into active growth. Nodes with a fibrous capsule can form on the lateral surfaces of the neck as the annular lipoma grows.
At first, the nodes are painless, palpation does not cause unpleasant sensations in the patient. Then a feeling of tension at the base of the skull may join. Compression of the neck and mediastinal organs is manifested by a whole complex of symptoms. Patients complain of headaches, pains in the heart, palpitations, shortness of breath, difficulty breathing, impaired swallowing and articulation. The size of the nodes does not change with the overall weight reduction. With the development of necrosis in the thickness of the lipoma, the formation subsides. With purulent melting of the contents, the local seal begins to fluctuate.
Against the background of Madelung’s disease, sensory, motor and vegetative dystonia, convulsive seizures, pseudomyopathy, accompanied by increasing muscle weakness, may appear. Patients with muscle damage cannot raise their arms above a certain level, comb their hair, put their hands behind their head, or perform other simple actions. Women often have oligomenorrhea.
The accumulation of adipose tissue hinders movement, deforms the contours of the human body, creating a pronounced aesthetic imperfection. The life-threatening consequences of Madelung’s disease are compression by fatty tissue of the esophagus, trachea and large bronchi, carotid artery, branches of the superior vena cava. Cases of malignant degeneration of initially benign growths of adipose tissue are described.
According to the analysis of the causes of mortality of patients with lipomatosis, the so-called “sudden death” prevails, when a patient in a satisfactory condition dies for no apparent reason. Such a sudden death may be a consequence of a person’s alcoholic history or chronic compression of the mediastinal organs.
The examination of patients with Madelung’s disease is carried out by a dermatologist. If necessary, other narrow specialists can be connected to the diagnosis: an endocrinologist, a surgeon. The patient is assigned a comprehensive comprehensive examination in order to determine the underlying and concomitant diseases, assess the general state of health, identify possible contraindications to surgery. The survey plan includes:
- Blood and urine tests. hyperalphaproteinemia against the background of increased lipoprotein lipase activity is characteristic of patients with Lonois-Bansoda syndrome. Elevated or, conversely, decreased levels of hormones of the adrenal glands, thyroid and other glands, disorders in the liver, kidneys and other internal organs may also be detected.
- Histological examination. Tissue samples taken from lipomas by biopsy are examined under a microscope. According to the morphological structure, the nodes developing in Madelung’s disease consist of unchanged adipose tissue. The differential diagnosis of benign lipomatosis with other diseases is largely based on these data.
- Methods of medical imaging. Soft tissue ultrasound, head and neck MRI , CT of the mediastinal region allow to obtain the necessary information about the nature of the growths. The most preferred and informative method of research is determined by the doctor based on the picture of the disease. All methods allow us to assess the condition of the mediastinal and neck organs, to assess the size of fat nodes, their benign nature.
Differential diagnosis of symmetrical lipomatosis is performed with lymphosarcoma, Derkum’s disease, neurofibromatosis. To the fore in the collection of anamnesis comes the clarification of the list of medications that the patient takes courses or constantly, to exclude drug-induced lipomatosis.
Surgery is the only way to remove fatty growths on the patient’s body. Lipomas are not sensitive to pharmacological, physiotherapeutic and other influences. Depending on the goals facing the patient and his attending physician, one of the following methods may be the most preferable:
- Liposuction. Fat aspiration in patients with Madelung’s disease is carried out mainly for aesthetic reasons. The choice of the most preferred method of liposuction is determined by the volume of lipomas and fat pads. Mechanical lipoaspiration allows you to remove small amounts of fat. With large-sized formations, rotational and ultrasonic liposuction are preferred.
- Surgical operation. Excision of lipomas is the method of choice in cases when it is necessary to free organs from fat layers squeezing them. To do this, it is necessary to carry out all manipulations with jewelry tonality, which cannot be done with lipoaspiration of cannulas blindly. The scope of the operation is determined individually, taking into account the patient’s condition and prevailing symptoms.
Complicating surgical interventions in patients with Madelung syndrome is the fact that lipomas grow mainly from interfacial adipose tissue. This tissue in the form of thin layers penetrates into the intermuscular spaces. The surgeon, when removing the annular lipoma, encounters numerous technical difficulties, especially when working on the anterolateral surface of the neck.
Prognosis and prevention
The course of Madelung’s disease is chronic. Long periods of relatively stable existence of lipomas can be replaced by their rapid growth. Conservative treatment is ineffective. After surgical removal of fatty growths, relapses often occur associated with deep penetration of altered adipose tissue into the gaps between the muscles and arrays of normal subcutaneous fat.
Prevention of the disease has not been developed. Taking into account the fact that hereditary predisposition is most often realized under the influence of chronic alcohol intoxication, it is recommended to reduce the consumption of alcoholic beverages or to abandon their use completely.