Lipomatosis dolorosa is a very rare disease of adipose tissue, the cause of which is largely unknown. It usually occurs in the context of obesity, although this is not always the case. The disease is very painful and usually affects women.
What is lipomatosis dolorosa?
Lipomatosis dolorosa is also known as adipositas dolorosa, adiposis dolorosa, Dercum’s disease, adipose tissue rheumatism or as lipalgia. It was first described in 1888 by neurologist Francis Xaver Dercum. It is a very rare chronic disease of adipose tissue that mainly affects women. In rarer cases, men also suffer from it. It results in extremely painful fatty tissue deposits in the subcutaneous connective tissue. These fatty tissue deposits are called lipomas. These are benign tumors of adipose tissue that are often distributed over the entire body in lipomatosis dolorosa. Lipomas are indeed observed very frequently. In Dercum’s disease, however, a special form is present, the cause of which is largely unclear. Characteristic of the disease is the severe pain at the sites of fatty tissue growths. Lipomatosis dolorosa is chronic, progressive, causes permanent pain and constant suffering.
Causes
A genetic predisposition is suspected as the cause of lipomatosis dolorosa. In individual cases, a familial cluster has been described. The mode of inheritance is autosomal dominant. Immunological processes, disorders of fatty acid synthesis or dysregulation of the nervous system are suspected as part of this disposition. Whether other factors also play a role in the development of lipomatosis dolorosa is unknown.
Symptoms, complaints, and signs
The appearance of lipomatosis dolorosa is not uniform. Usually, patients are obese. However, there are also cases where this is not true. Subcutaneous deposits in adipose tissue appear as a characteristic feature. They are usually located on the abdomen, buttocks, elbows, knees, on the inner side of the upper arm or on the inner or outer side of the thigh. Even slight pressure causes the deposits to cause severe pain. The pain is stabbing or burning. There is also hyperalgesia. This means that the pain stimulus is felt to be increased. Traditional painkillers are completely ineffective. The quality of life of those affected is severely limited. Three patterns of disease have been identified:
- Type I is also called juxtaarticular type, which means close to the joint. Here there are painful fat deposits on the knees and hips.
- Type II is accompanied by diffuse, painful fat deposits in various parts of the body.
- Type III is called nodular type (lipomatosis). Here, painful lipomas sometimes occur without concomitant obesity.
In the context of lipomatosis dolorosa often notice, in addition to obesity and physical weakness, psychological problems. Patients often suffer from mood swings, confusion, depression, dementia or epilepsy. Most often, the disease occurs in women after menopause, between the ages of 45 and 60. In rare cases, men are also affected. With the exception of the neck or face, lipomas can occur anywhere. In lipomas close to the joints, joint pain occurs. Therefore, it is sometimes referred to as adipose tissue rheumatism. The higher the patient’s BMI, the more severe the pain. Above the fatty deposits, skin bleeding and paresthesias (tingling) often occur in the skin. Mostly sporadic cases have been detected. However, in some cases, there are familial clusters of lipomatosis dolorosa.
Diagnosis and course of the disease
The diagnosis of lipomatosis dolorosa is usually made in the clinic by fine-tissue examination. In isolated cases, examinations by MRI also provide diagnostic clues. The co-occurrence of fat deposits, pain, and obesity forms the basis for the investigations. However, due to the varying manifestations of lipomatosis dolorosa, the diagnosis is often made very late.
Complications
In most cases, lipomatosis dolorosa results in relatively severe pain. In this case, the affected individuals are usually overweight or obese. Likewise, various deposits occur on the affected parts of the body, although the patient’s abdomen is most affected by the deposits.Furthermore, the pain occurs either with pressure or in the form of pain at rest. Pain at rest can also lead to sleep problems at night and thus to irritability of the patient. In most cases, lipomatosis dolorosa cannot be treated with painkillers. Patients also continue to suffer from confusion and mood swings. Complaints of dementia or depression may also occur. Not infrequently, the disease also leads to epileptic seizures. Treatment of the disease is carried out with the help of medications. As a rule, complications only occur if no treatment is given. However, those affected are also dependent on fat reduction or liposuction. In many cases, however, psychological treatments are also necessary. Whether lipomatosis dolorosa results in a decreased life expectancy for the patient cannot generally be predicted.
When should you see a doctor?
Obesity, pain in fatty tissue, and other signs of lipomatosis dolorosa should be evaluated by a doctor. Symptoms such as lumps or fat accumulation at the joints also indicate Dercum’s disease and are therefore best clarified quickly. If, as a result of the growing fatty tissue, movement restrictions, circulatory problems and other complaints occur, medical advice is required. The same applies if psychological complaints arise in connection with the condition. In this case, a therapist should be consulted who is ideally in contact with the treating physician. A combination therapy enables optimal treatment of the condition and its symptoms, which in the long term also improves the quality of life of those affected. Risk groups include people with hormonal disorders, dysfunction of the fatty tissue and chronic inflammatory diseases. The disease can be diagnosed by a general practitioner or a specialist. The underlying condition is treated by a specialist in adipose tissue disorders, while the symptoms are treated by different specialists (such as dermatologists and gastroenterologists). In cases of obesity, it is best to involve a nutritionist.
Treatment and therapy
Currently, lipomatosis dolorosa cannot be satisfactorily treated. Treatment is largely symptomatic with the administration of analgesics, although traditional analgesics are ineffective. Intravenous infusions of lidocaine can achieve weeks and sometimes months of pain relief. Because many side effects occur here, this treatment is not suitable as a long-term form of therapy. Alternatives are plasters and creams containing lidocaine. At least a reduction in pain can be achieved. Local injections of corticosteroids (prednisone) also reduce the pain. Combinations of mexiletine and amitriptyline or infliximab and methotrexate also help to reduce pain. No relief can be obtained by weight reduction. Neither the lipomas nor the pain disappear as a result. Surgically, the fatty tissue can be removed (adipose tissue excision) or the fat can be suctioned out. However, this does not bring lasting success. Lipomas often reappear in the same place. Lipomatosis dolorosa is a chronic disease and takes a progressive course. In addition to lifelong therapy of the disease, psychological care is often required. The suffering pressure on the patients is very high due to the severe pain alone. Added to this is the certainty that lipomatosis dolorosa is currently incurable.
Outlook and prognosis
The prognosis of lipomatosis dolorosa is mostly unfavorable. The disease has a progressive course and cannot be stopped with current medical options. Nevertheless, the further development depends strongly on the causative disorder. Physicians and scientists suspect a genetic defect in the patient. However, the origin of the disease has not yet been fully elucidated. A genetic defect cannot and must not be altered due to the existing legal situation. Interfering with the genetics of humans is prohibited. Nevertheless, the irregularities show up in patients with obesity. For this reason, preventive measures are possible in people with a family history of obesity. They can have a positive influence on the developing symptoms and should be applied in time.Surgical interventions have so far shown no success. The formation of the fatty tissue has progressed again within a short time to such an extent that no improvement can be seen. Weight reduction at this stage of the disease also does not bring recovery. The disease is associated with severe pain and therefore represents a strong challenge for the affected person in coping with everyday life. Psychological sequelae can be observed in the majority of cases. This development has a negative impact on the quality of life of the affected person and further worsens the prognosis.
Prevention
Because the cause of lipomatosis dolorosa is completely unclear, no recommendation can be made for prophylaxis of the disease. It is assumed that there is a genetic predisposition. However, the factors for triggering the disease are not known. Since the disease often appears for the first time in women after menopause, it is possible that hormonal changes play a role. Whether a healthy lifestyle can prevent the triggering of lipomatosis dolorosa is not known.
Follow-up
Lipomatosis dolorosa can lead to a number of different complications and discomforts in the affected individual, so sufferers should definitely seek medical attention for this condition. It may not heal on its own, with symptoms usually worsening if treatment is not initiated. Therefore, sufferers should contact a medical professional at the first signs and symptoms of lipomatosis dolorosa. Most of the affected persons suffer from obesity due to the disease. Therefore, it is not uncommon to experience depression, lowered self-esteem and in many cases even inferiority complexes. This can lead to bullying or teasing in adolescents or in children. Most patients show severe mood swings and often exhibit mental confusion. Major depression and dementia sometimes occur, with some sufferers also developing epilepsy. In the worst cases, an epileptic seizure can even lead to death. The further course of lipomatosis dolorosa depends strongly on the exact cause, so that a general prediction is often not possible. In some cases, however, the life expectancy of the affected person is reduced in the process.
What you can do yourself
It is of particular importance for patients with lipomatosis dolorosa to find a way to deal with the severe pain that the disease causes. Since the pain occurs both in a resting position and when performing movements, those affected try to find a comfortable and tolerable level of different activities. In general, regular visits to the attending physician with appropriate check-ups are essential for patients suffering from the disease in order to monitor their general state of health as well. This is because the disease is sometimes accompanied by other complaints such as epilepsy, so that there is a need for rapid action. Ordinary painkillers have no effect on this disease, so patients receive special pain treatments. However, the pain returns even after temporarily successful therapy, and the sufferers also suffer psychologically as a result. Overall, the disease represents a heavy psychological burden and often results in emotional complaints such as depression. For this reason, patients undergo psychotherapy in their own interest. Although the disease is chronic and there is currently no prospect of a cure, patients are careful to maintain a healthy lifestyle so as not to encourage further chronic illnesses. This includes, on the one hand, a balanced diet and, on the other hand, sporting activities clarified with the doctor in terms of type and extent.
