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, but this is not always the case. The disease is very painful and usually affects women.
What is lipomatosis dolorosa?
According to polyhobbies.com, lipomatosis dolorosa is also known as adiposity dolorosa, adiposis dolorosa, dercum disease, adipose tissue rheumatism or 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 get it. This leads to extremely painful fatty tissue deposits in the subcutaneous connective tissue.
These fatty deposits are called lipomas. These are benign tumors of fatty tissue that are often distributed over the entire body in lipomatosis dolorosa. Lipomas are observed very frequently. However, Dercum disease has a special form, the cause of which is largely unclear. The disease is characterized by severe pain at the sites of fatty tissue proliferation. Lipomatosis dolorosa is chronic, progressive, causes permanent pain and constant suffering.
Causes
A genetic disposition is assumed to be the cause of lipomatosis dolorosa. Familial accumulation has been described in individual cases. The inheritance is autosomal dominant. As part of this disposition, immunological processes, disturbances in fatty acid synthesis or dysregulation of the nervous system are suspected. It is not known whether other factors also play a role in the development of lipomatosis dolorosa.
Symptoms, Ailments & Signs
The appearance of lipomatosis dolorosa is not uniform. The patients are usually obese. However, there are also cases where this is not the case. Subcutaneous deposits in adipose tissue appear as a characteristic feature. They are usually located on the stomach, buttocks, elbows, knees, on the inside of the upper arm or on the inside or outside 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 disease patterns were identified:
- Type I is also known as the juxtaarticular type, which means close to the joint. This leads to painful fat deposits on knees and hips.
- Type II is accompanied by diffuse, painful fatty deposits in different parts of the body.
- Type III is called nodular type (lipomatosis). Here, painful lipomas sometimes occur without the simultaneous existence of obesity.
In the context of lipomatosis dolorosa, psychological problems are often noticed in addition to obesity and physical weakness. Patients often suffer from mood swings, confusion, depression, dementia or epilepsy. The disease mostly occurs in postmenopausal women between the ages of 45 and 60. In rare cases, men are also affected.
Lipomas can appear anywhere except on the neck or face. Joint pain occurs with lipomas close to the joint. This is why people sometimes speak of adipose tissue rheumatism. The higher the patient’s BMI, the greater the pain. Skin bleeding and paresthesia (tingling) often occur in the skin over the fatty deposits. Mostly sporadic cases were discovered. In some cases, however, there are also familial clusters of lipomatosis dolorosa.
Diagnosis & disease progression
The diagnosis of lipomatosis dolorosa is usually made in the clinic by means of histological examinations. In individual cases, MRI examinations also provide diagnostic information. The co-occurrence of fat deposits, pain and obesity forms the basis for the investigations. However, due to the different manifestations of lipomatosis dolorosa, the diagnosis is often made very late.
Complications
In most cases, lipomatosis dolorosa causes relatively severe pain. Those affected are usually overweight or obese. Various deposits also appear on the affected parts of the body, although the abdomen of the patient is most affected by the deposits. Furthermore, the pain occurs either with pressure or in the form of rest pain.
Pain at rest can also lead to sleep disorders at night and thus to irritability in the patient. In most cases, lipomatosis dolorosa cannot be treated with painkillers either. Patients also continue to suffer from confusion and mood swings. Symptoms of dementia or depression can also occur. It is not uncommon for the disease to lead to epileptic seizures.
Treatment of the disease is carried out with the help of drugs. As a rule, complications only arise if no treatment takes place. However, those affected are also dependent on fat reduction or liposuction. In many cases, however, psychological treatment is also necessary. Whether the patient’s life expectancy will be reduced as a result of lipomatosis dolorosa cannot usually be predicted in general.
When should you go to the doctor?
Obesity, pain in the fatty tissue and other signs of lipomatosis dolorosa should be clarified by a doctor. Symptoms such as lumps or accumulations of fat on the joints also indicate Dercum’s disease and are therefore clarified quickly at best. If the growing fatty tissue leads to restricted movement, circulatory disorders and other complaints, medical advice is required. The same applies if psychological problems also arise in connection with the condition. Then a therapist should be consulted, who is ideally in contact with the attending physician.
A combination therapy enables optimal treatment of the condition and its symptoms, which also improves the quality of life of those affected in the long term. Risk groups include people with hormonal disorders, functional disorders of adipose tissue and chronic inflammatory diseases. The disease can be diagnosed by a family doctor or a specialist. The underlying condition is treated by a specialist in adipose tissue disorders, while the symptoms are treated by various specialists (such as dermatologists and gastroenterologists ). If you are overweight, it is best to consult a nutritionist.
Treatment & Therapy
Lipomatosis dolorosa cannot currently be treated satisfactorily. Treatment is largely symptomatic through the administration of analgesics, with traditional painkillers being ineffective. Intravenous infusions of lidocaine can provide weeks and sometimes months of pain relief. Since many side effects occur here, this treatment is not suitable as a long-term form of therapy.
Plasters and creams containing lidocaine are alternatives. In this way, at least a reduction in pain can be achieved. Local injections of corticosteroids (prednisone) also reduce pain. Furthermore, combinations of mexiletine and amitriptyline or infliximab and methotrexate help to relieve pain. Weight loss cannot bring relief. Neither the lipomas nor the pain go away as a result. The fatty tissue can be surgically removed (fat tissue excision) or the fat can be suctioned out.
However, this does not bring lasting success. Lipomas often develop again in the same place. Lipomatosis dolorosa is a chronic disease and takes a progressive course. In addition to lifelong therapy for the disease, psychological support is often required. The psychological strain on the patients is very high, if only because of the severe pain. In addition, there is the certainty that lipomatosis dolorosa is currently not curable.
Outlook & Forecast
The prognosis of lipomatosis dolorosa is mostly unfavorable. The disease has a progressive course and cannot be stopped with the current medical possibilities. Nevertheless, further development depends heavily on the causal disorder. Doctors 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 changed due to the existing legal situation. Intervention in human genetics is prohibited.
Nevertheless, the irregularities show up in patients with obesity. For this reason, preventive measures are possible in people with a family history. They can have a positive influence on the developing symptoms and should be used in good time. Surgical interventions have so far been unsuccessful. The formation of adipose tissue has progressed so much again within a short period of time that there is no improvement to 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 major challenge for those affected in coping with everyday life. Psychological sequelae can be observed in the large number of cases. This development has a negative impact on the quality of life of those affected and also worsens the prognosis.
Prevention
Since 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 disposition. However, the factors that trigger the disease are not known. Since the disease often first appears in women after menopause, it is possible that hormonal changes play a role. It is not known whether a healthy lifestyle can prevent the triggering of lipomatosis dolorosa.
Aftercare
Lipomatosis dolorosa can lead to a number of different complications and symptoms in those affected, so those affected by this disease should definitely consult a doctor. It cannot heal on its own, and the symptoms usually get worse if no treatment is initiated. Therefore, the affected person should contact a doctor at the first signs and symptoms of lipomatosis dolorosa.
Most sufferers suffer from obesity as a result of the condition. It is therefore not uncommon for depression, reduced self-esteem and in many cases even to inferiority complexes. This can lead to bullying or teasing among young people or children. Most patients have severe mood swings and often have mental confusion.
It sometimes leads to severe depression and dementia, with some sufferers also developing epilepsy. In the worst case, an epileptic seizure can even lead to death. The further course of lipomatosis dolorosa depends heavily on the exact cause, so that a general prediction is often not possible. In some cases, however, the life expectancy of those affected is reduced.
You can do that yourself
It is of particular importance for patients with lipomatosis dolorosa to be able to cope 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 various activities. In general, regular visits to the treating doctor with appropriate check-ups are essential for the sick patient in order to monitor their general state of health. Because the disease sometimes goes hand in hand with other symptoms such as epilepsy, there is a need for immediate action.
Ordinary painkillers have no effect on this disease, so patients receive special pain treatments. However, the pain returns even after temporarily successful therapy, which also causes those affected to suffer mentally. Overall, the disease represents a strong psychological burden and often results in psychological problems such as depression. Therefore, the patients carry out psychotherapy in their own interest.
Although it is a chronic disease with currently no prospects of recovery, the patients pay attention to a healthy lifestyle so as not to encourage further chronic diseases. This includes, on the one hand, a balanced diet and the type and extent of sporting activities that have been clarified with the doctor.