Derkum’s disease is a neuroendocrine disease, the main clinical manifestations of which are single or multiple diffusely localized fatty formations, adynamia, asthenization of the patient, depression. The growth of lipomas is accompanied by compression-ischemic damage to the skin branches of peripheral nerves, which is manifested by chronic pain, a feeling of numbness of the fingers, awkwardness of movements. The diagnosis is made on the basis of anamnesis and a comprehensive examination. Conservative treatment involves the appointment of analgesics, corticosteroids, cytostatics, hyperbaric oxygenation sessions. Large lipomas are surgically removed.
E88.2 Lipomatosis, not classified elsewhere
A number of synonymous terms are used to denote pathology: Derkum syndrome, painful lipomatosis, neurolipomatosis, painful fibrolipomatosis, lipalgia, adiposalgia, morbid obesity. The disease was described in 1888 by the American neurologist and psychiatrist Francis Xavier Derkum. Since then, researchers have made little progress in understanding the mechanisms of the disease. Lipalgia is diagnosed in women 25-60 years old. In 85% of cases, the first symptoms appear in patients before menopause. Cases of neurolipomatosis in young and middle-aged men are described. The ratio of female and male patients is 20:1.
A small number of observations, late identification of patients, diagnostic errors due to the variety of manifestations of systemic pathological processes make it difficult to conduct systematic research on the study of Derkum’s disease, the causes of its development. Currently, there are several scientific theories that identify the following factors as the leading cause:
- Hereditary predisposition. It is assumed that Derkum’s disease is inherited by an autosomal dominant type. The study of a sample of key patients made it possible to trace the development of the disease along the “grandmother-mother-daughter” line. However, most cases, especially in men, develop sporadically, which may indicate spontaneous mutations or variability in the expression of genes responsible for the development of lipalgia.
- Metabolic disorders. One of the mechanisms for the development of morbid obesity may be the pathology of lipid metabolism against the background of hormone imbalance. According to one of the working hypotheses, a key role in this process is assigned to disturbances in the metabolism of C18 fatty acids. A number of researchers consider the defeat of the thyroid gland and pituitary gland secondary to neurological disorders.
- Autoimmune processes. The systemic nature of the lesion gives researchers reason to assume an autoimmune nature of the disease, the same as in rheumatoid arthritis or systemic lupus erythematosus. The only difference between these diseases is that it is not the connective tissue that is affected, but mainly adipose tissue.
- Neurological disorders. A number of authors assign the main importance in the genesis of the Derkum syndrome to the defeat of the nerve centers of the higher parts of the central nervous system. The effect of the syndrome of diencephalic disorders on lipid metabolism, which is characterized by a whole complex of metabolic, vegetative, endocrine disorders, is not excluded.
There are indications of the connection of lipomatosis with allergic, infectious diseases, conditions associated with hormonal restructuring of the body (pregnancy, menopause). The defeat of the hypothalamus, as a trigger factor for the development of pathology, may be a consequence of traumatic brain injury, encephalitis. Cases of the onset of Derkum’s disease after surgical operations are described.
Violation of the humoral regulation of lipid metabolism in Derkum syndrome is a consequence of degenerative-dystrophic changes in the tissues of the endocrine glands. The adrenal glands, thyroid gland, and pituitary gland suffer the most. Cystic degeneration, sclerosis, parenchymal dystrophy lead to a decrease in the production of hormones that regulate metabolic processes.
Local clusters of hypertrophied adipocytes are actively vascularized and give rise to multiple fast-growing angiolipomas. Fat deposits squeeze the nerve trunks, neuropathy develops. This, combined with concomitant sympathetic dysregulation, provokes the appearance of local pains that are not relieved by conventional analgesics. Violation of blood circulation through the arterioles and venules of the skin due to compression often causes the formation of scars and diffuse seals.
As neurological and endocrine disorders progress, changes in organs and tissues develop. Loss of bone density leads to osteoporosis. Secondary dystrophic changes in the sympathetic nerve nodes are manifested by sweating disorders, decreased mood, muscle weakness. Due to chronic pain syndrome, the patient’s falling asleep process is disrupted, anxiety disorders and depression develop.
Several classifications of Derkum’s disease have been developed and applied in clinical dermatology. The classification compiled in 2011 by Hansson and co-authors based on the observation of 111 patients with lipalgia is considered the most complete. It is based on the presence of painful lipomas and the predominant localization of pain. According to this classification, there are 4 forms of the disease:
- Generalized diffuse. Pain sensations do not have a clear localization, are not associated with lipomas, cover the entire adipose tissue. At the same time, the patient may not have clearly defined angiolips.
- Generalized nodal. Multiple lipomas. The pain in the lipoma area is intense, it increases with pressure. Moderate or minor soreness is noted in adipose tissue outside the angiolip locations.
- Localized nodal. Pain sensations are localized in the area of fat deposits and in the surrounding tissue.
- Juxta is articular. Single lipomas are detected in the patient, which are located mainly in the area of large joints.
In most cases, the first manifestations of neurolipomatosis are fatty patches that form under the skin for no apparent reason and can spontaneously disappear, leaving behind seals or skin swellings, white striae. Lipomas can be located on any part of the body, they are often multiple. On the same site, the incrustations can be formed repeatedly, including after their surgical removal. Simultaneously with irregular-shaped fat deposits, general obesity develops. In the absence of characteristic fat seals, the diagnosis of the disease is difficult, it is difficult for the doctor to judge the real severity of the patient’s condition.
Sometimes pain syndrome comes to the fore in the clinical picture. It can have a different degree of intensity, cyclic variability. The pain is described as aching, burning or stabbing. It is amplified by touching and pressing. Predominant localization of pain sensations: the inner surfaces of the shoulders and thighs, abdomen, buttocks, the “breeches” area. Painful sensations may occur in the face, hands, anogenital area.
Helps to reduce pain by dry heat, taking a hot bath. Increased pain is noted during menstruation, when the weather changes, in the cold season. Infectious diseases, even such harmless ones as ARI, can provoke an increase in unpleasant sensations. Simultaneously with pain in the area of angiolip and subcutaneous adipose tissue, ossalgia of long tubular bones of the extremities, large joints, headaches may be noted. Some patients describe their sensations in the feet as “walking on glass”.
Against the background of chronic pain, the patient develops insomnia, anxiety disorder, there is a decrease in mood up to depression. Asthenic syndrome is manifested by general weakness, which sharply increases with minor loads, a decrease in working capacity. In some patients, in addition to fat deposits, fluid accumulations form in various areas of the body. Edema disappears as a result of treatment, but may spontaneously reappear.
The debut of the disease, an exacerbation of Derkum’s disease may be marked by a fever of unclear genesis. Body temperature can rise to 37.5-39 °C and stay at this level for several weeks. Numbness of the fingers, stiffness of movements in the morning may join. In severe cases, stun or lethargy develops against the background of deterioration of the general condition. The disease has been progressing for decades, but under the influence of provoking factors, the patient may lose his ability to work in a couple of months. Short-term periods of remission are possible.
Subcutaneous angiolipomas do not threaten the patient’s life, which cannot be said about the adipose veins located in the lungs and heart. Pulmonary complications are the leading cause of death in patients with adiposalgia. The defeat of the heart muscle leads to circulatory insufficiency, which further aggravates the patient’s condition.
Against the background of a systemic pathological process, mental disorders often develop: psycho-organic syndrome, dementia, psychotic phenomena. Neuropsychiatric disorders are steadily progressing along with the underlying disease. Treatment of Derkum syndrome reduces the severity of psychotic phenomena, but some patients need the help of a psychiatrist even during remission of the underlying disease.
No specific tests have been developed to detect Derkum’s disease. The diagnosis of lipalgia is made by excluding other diseases with similar symptoms. Differential diagnosis is performed with Madelung’s disease, HIV-associated lipodystrophy, multiple symmetrical lipomatosis. The complex of laboratory and instrumental tests includes:
- Blood and urine tests. At the discretion of a specialist, the patient may be given directions for general and biochemical urine tests, determination of the level of hormones, markers of inflammation. The list of examinations by a dermatologist, endocrinologist and surgeon may vary significantly depending on the expected diagnoses, concomitant pathology, and possible complications.
- Magnetic resonance imaging. The patient may be assigned an MRI of the brain to detect pathological changes in the central nervous system, an MRI of the chest in case of suspected presence of lipomas in the heart, lungs, an MRI of soft tissues for differential diagnosis of benign and malignant neoplasms.
- Ultrasound diagnostics. In order to detect angiolip, confirm the diagnosis of painful fibromatosis, and determine indications for surgical treatment, soft tissue ultrasound is performed. The methods of elastography and color Doppler mapping allow to increase the informative value of the study.
The main diagnostic criteria for neurolipomatosis are obesity and chronic subcutaneous tissue pain lasting more than 3 months. Subcutaneous fat accumulations and other symptoms are optional and may join later.
The most appropriate method of therapy is selected taking into account the form of the underlying disease, the presence of concomitant pathology, and existing complications. At the initial stages, both conservative and surgical methods of treatment can be used with equal success, especially in cases where angiolipomas are regarded by a person as a noticeable cosmetic defect.
The patient is recommended a diet aimed at reducing body weight, physical activity, relaxation techniques to reduce physical discomfort and psychological stress, taking warm baths. The purpose of the effects is to normalize the weight, the process of falling asleep. The courses can be performed massage, acupuncture sessions, paraffin or ozokeritotherapy. In a state of remission or unexpressed exacerbation, sanatorium treatment is indicated.
A feature of the Derkum syndrome is its low sensitivity to most medications. In this regard, the dermatologist has to change the treatment regimens to select the most effective. The main groups of drugs for the treatment of neurolipomatosis include:
- Analgesics. The effect of systemic use of nonsteroidal anti-inflammatory drugs is usually unsatisfactory. To reduce pain, patches with lidocaine are used, liposuction with local anesthetics. Treatment of large areas can be carried out with sprays or creams of local anesthetic action.
- Cytostatics. Patients may be prescribed methotrexate and infliximab. The scientific literature describes isolated cases of a satisfactory result of such treatment. The wide use of cytostatics is limited by a large number of complications and adverse reactions.
- Glucocorticosteroids. Methylprednisolone for the treatment of Derkum’s disease is administered topically, so it can only be used for localized forms of the disease. The effect of using corticosteroids is unpredictable. Drugs can reduce the level of pain or, on the contrary, significantly increase the soreness in the tissues.
- Vitamins. Long-term intake of levocarnitine contributes to the normalization of fat metabolism and body weight, increases the effectiveness of diet and sports. The use of the drug in the complex treatment of Derkum syndrome helps to reduce pain, prevents the formation of lipomas.
The endermology of LPG is a kind of hardware massage, which involves the impact on the skin, subcutaneous tissue and muscles of special motorized rollers. In terms of its effect on tissues, the method is comparable to liposuction and can be used to eliminate fat seals in Derkum’s disease. Information about the elimination of pain syndrome by the method of LPG massage is not enough to recommend it to a wide range of people.
Prompt elimination of the symptoms of the disease can be carried out in the early stages if analgesic drugs do not stop the pain syndrome or there are contraindications to their use. Surgical interventions are technically simple, but require the preparation of a patient who, against the background of a violation of the endocrine system, may develop undesirable reactions. Surgical treatment is carried out in two ways:
Liposuction. The method allows you to eliminate unaesthetic fat surges, correct the contours of the body and at the same time reduce the severity of pain syndrome. With the help of a cannula, the doctor during the procedure damages the nerve fibers passing through the subcutaneous adipose tissue, which breaks the continuous chain of pathological nervous impulses and eliminates pain.
Surgical removal of lipomas. During the operation, fat cells with a capsule can be removed. Formations without clear boundaries are better removed by liposuction. The intervention is performed under local anesthesia on an outpatient basis. All manipulations are performed through small incisions in the skin to avoid noticeable scarring.
Satisfactory results of treatment of Derkum syndrome by hyperbaric oxygenation have been obtained. The method was tested on volunteers suffering from neurolipomatosis. Pneumatic displacement of fluid from the pathological focus leads to a decrease in local edema, promotes the restoration of normal blood circulation, and reduces oxygen starvation of tissues. This allows you to reduce the severity of pain, slow down the progression of systemic disorders of the disease.
Prognosis and prevention
Derkum’s disease has a chronic progressive course. Remissions are usually unstable. Spontaneous regression of individual elements does not indicate recovery. Severe pain syndrome, associated adynamia, violation of the general condition of the patient lead to disability, disruption of social contacts. Timely diagnosis, surgical removal of fat accumulations that compress nerve nodes and trunks, prevents the development of secondary degenerative changes in the peripheral nervous system. This improves the prognosis, increases the effectiveness of measures aimed at relieving neuropathic pain.
Patients with Derkum syndrome should take measures aimed at preventing infectious diseases and injuries, contact with allergens. This will avoid exacerbation of lipalgia, rapid increase in symptoms of the disease. When the first signs of neuropsychiatric disorders appear, it is advisable to consult a psychiatrist and begin treatment, without which the patient may not be able to cope with depression, hallucinations or delusional disorder.