Madelung syndrome describes the benign disorder in fat distribution analogous to a symmetrical lipomatosis. It results in a marked bilateral increase in adipose tissue in the neck, chin, and proximal portions of the upper extremities.
What is Madelung syndrome?
The clinical picture of Madelung syndrome is manifested by a non-natural proliferation of fatty tissue distributed in different parts of the body. The disease is also called lipomatosis. This includes several clinical pictures, which cannot always be completely differentiated. In all of them, however, the typical tumors appear. Madelung syndrome is a metabolic disease which has not yet been adequately researched. The fat tumors can appear in different parts of the body such as the neck, head, upper and lower extremities, back and abdomen. Madelung syndrome is not a malignant disease. Although the proliferating fatty tissue is considered pathological, it is benign. This process is also called adipose tissue hyperplasia and is mainly a cosmetic problem. In Madelung syndrome, the head and neck areas are usually affected.
Causes
The causes of Madelung syndrome have not been adequately researched to date. Some affected individuals show an increased occurrence within their family. Thus, it can be assumed that genetic factors play a role. Furthermore, there are often metabolic diseases, which are assumed to be related to Madelung syndrome. Other factors such as diabetes mellitus, hypothyroidism and other diseases of the lipid metabolism can trigger Madelung syndrome. At the cellular level, fat cells capable of proliferation no longer respond to signals from the body. Hormones are blocked and lose their effect. Furthermore, HIV treatment is causative for Madelung syndrome, in which lipomatosis occurs as a side effect as a result of the medication.
Symptoms, complaints, and signs
Madelung syndrome is initially manifested by a marked increase in fatty tissue on different parts of the body. Most commonly, these appear on the head and neck, the shoulder area, and the upper and lower extremities. The growths can be difficult to distinguish from each other. They are often misinterpreted as weight gain at the onset of the disease. However, the disease progresses rapidly and the tissue growths are clearly visible. Madelung syndrome often presents in a symmetrical fashion at the affected sites. When the growths are palpated, they feel very hard. In most cases, other physical limitations also occur. The fat neck, which is typical of the disease, can become very prominent, compressing the trachea and esophagus. As a result, swallowing and breathing difficulties occur. Psychosocial abnormalities also occur. Affected individuals suffer greatly from the cosmetic problems caused by Madelung syndrome.
Diagnosis and course of the disease
The disease is very rare, so the diagnosis is usually made by specialists. The most important symptom is the rapidly growing tissue overgrowth, which is usually conspicuously distributed. Of great importance in the diagnosis by a specialist is the removal of tissue, which is then examined by laboratory techniques. The final diagnosis of Madelung syndrome is made by the histologist. Madelung syndrome describes a chronic and progressive disease. In most cases, there is a progressing growth of fatty tissue, which is initially faster. As the disease progresses, the progression of Madelung syndrome slows down. In rare cases, even a standstill of the disease could be demonstrated. This occurred mainly when the accompanying risk factors were minimized. Through constant treatment, it is possible to control the extent of Madelung syndrome. However, this requires that affected individuals undergo surgical procedures that cannot be performed without risks. These mainly include infection and bleeding. Another risk is that after surgical intervention, the proliferation of fatty tissue proceeds even faster.
Complications
Due to Madelung syndrome, affected individuals primarily suffer from aesthetic complaints. The fat is not distributed proportionally in the body, so that certain areas and regions of the body accumulate more fat than usual, which can sometimes lead to unsightly deformities. This results in an unusual appearance, so that many of those affected do not feel comfortable with their bodies and suffer from reduced self-esteem or inferiority complexes. The patient’s quality of life is significantly reduced by Madelung syndrome. However, the growths and tumors can also have a very negative effect on the patient’s health, causing, for example, difficulty breathing or swallowing. This can further lead to shortness of breath or loss of consciousness. Swallowing difficulties can lead to restrictions or discomfort in the intake of food and fluids, so that deficiency symptoms can occur. Usually, Madelung syndrome requires surgery or liposuction to limit symptoms. In most cases, sports activities have no particular effect on these complaints. In some cases, however, therapies for asthma must be used to keep sufferers completely symptom-free. The patient’s life expectancy is usually not reduced by Madelung syndrome.
When should you see a doctor?
If the affected person notices deformities on his body or the unusual formation of fat pads, he should see a doctor. If there are visual abnormalities or an unnatural distribution of fatty tissue, a visit to the doctor is necessary to clarify the cause. If the clothing no longer fits, if there is a feeling of pressure or tightness in shoes or everyday clothing, and if there is a general feeling of discomfort, a doctor is needed. Fat bulges or swellings in the face should be presented to a doctor. In particular, discomfort in the area of the neck, head or chin are indications of an existing disease that should be treated. With a healthy and balanced diet, the formation of fatty tissue on the extremities, back and abdomen is a warning sign of an existing disorder. If the affected person does not suffer from obesity, there is often a disease of the metabolic system that needs to be examined by a doctor. If there are psychological problems due to the visual changes, a visit to the doctor is also advisable. In case of conspicuous behavior, a withdrawal from the social environment or an aggressive appearance, the use of a doctor or therapist is recommended. Decreased self-esteem, depressive behavioral traits, diffuse anxiety, and obsessive-compulsive behaviors should be treated in collaboration with a therapist.
Treatment and therapy
There are no known successful treatments for the disease cause of Madelung syndrome. Thus, therapy is aimed at controlling the symptoms. Due to the particular nature of the adipose tissue growths, sports activities and diet programs are shown to be rather ineffective. Therefore, surgical interventions are usually unavoidable. Liposuction helps only temporarily, but promises immediate visible improvements in the affected areas of the body. If the fatty tissue is too hard, however, a surgical procedure is performed in which the tissue is then removed with a scalpel. It should be noted, however, that these procedures usually provide relief for only a short period of time. The risk of recurrence is also increased. In almost 100 percent of cases, the tissue growths grow again. However, surgery is always indicated when the growths also affect the organs. Clinical studies have shown that therapy with the drug salbutamol, which is used to treat asthma, counteracts the reformation of proliferating fatty tissue.
Outlook and prognosis
The prognosis of Madelung syndrome is unfavorable. To date, the cause of the disease has not been fully elucidated. This makes it difficult for physicians and scientists to devise appropriate treatments. It can be assumed that there is a genetic disposition that leads to the health abnormalities.If this suspicion is confirmed, the further prognosis prospects will also remain unfavorable, since alteration of human genetics is not permitted by law. To date, there is no permanently effective therapy method for improving the health disorders. Likewise, self-help measures are significantly limited and do not bring the desired effect. As a result, states of emotional distress are often triggered. Ultimately, this significantly increases the risk of developing a mental disorder. In addition, a physical secondary disease may develop over a lifetime. Often, a chronic condition such as asthma is diagnosed. Surgical intervention provides for the removal of formed fat. Consideration must be given to the possibility of complications that may arise from such surgery. Even with a successful surgical procedure, only short-term improvements in health are seen in Madelung syndrome sufferers. In almost all previous patients, regression and thus repeated growth of the tissue changes have been documented in the further course.
Prevention
The causes of Madelung syndrome have not yet been adequately investigated. For this reason, the disease is difficult to prevent. In any case, it is wise to keep diseases of the metabolism associated with Madelung syndrome sufficiently under control. Any alcohol consumption should be kept to a minimum, as this is also associated with the disease. Particular attention should be paid to this if there have been previous cases of Madelung syndrome in the family.
Follow-up
Because a cure for Madelung syndrome is usually not possible, aftercare focuses on making the sufferer’s suffering acceptable. In most cases, the symptoms have a very negative impact on the quality of life; therefore, it is important to promote a self-aware approach to the disease. The increased and controllable proliferation of fatty tissue in various parts of the body results in reduced aesthetics for those affected, so that many patients also suffer from reduced self-esteem and, furthermore, inferiority complexes. In children or in adolescents, the appearance can also lead to bullying or teasing, so that especially these age groups suffer from depression or other psychological upsets. Therefore, it is recommended to seek professional psychological help to alleviate the suffering. In some cases, Madelung syndrome can also reduce the life expectancy of the affected person. Contact with other sufferers can also promote the exchange of knowledge about the clinical picture and contribute significantly to well-being.
What you can do yourself
Treatment of Madelug syndrome is usually purely symptomatic. In most cases, surgical interventions are necessary, after which, above all, rest and bed rest apply. After liposuction, the dressing must be changed daily. In addition, water must not be allowed to come into contact with the wound during the first two days. Physical exertion should be avoided for the first three to four weeks after the procedure. Since there is a great loss of fluid after liposuction, sufficient fluid should be taken in after the procedure. Bruising and swelling can be alleviated, in addition to medical therapy, by a number of home remedies and preparations from natural medicine. Similar measures apply to surgical procedures in which the hardened fatty tissue is removed. Good wound care is indicated to avoid wound healing disorders, inflammation and the formation of scars. Since tissue overgrowth can always occur after an operation, close monitoring by the physician is necessary. Any accompanying symptoms must also be treated. Inhalations sometimes help against swallowing and breathing difficulties, while any psychosocial effects must be treated as part of therapy.
