Barraquer-Simons Syndrome: Causes, Symptoms & Treatment

Barraquer-Simons syndrome is a disorder that usually first appears in children or adolescents. The condition occurs with only a low prevalence in the average population. Barraquer-Simons syndrome is typically characterized by loss of adipose tissue from the subcutaneous tissue in the trunk and facial areas.

What is Barraquer-Simons syndrome?

Barraquer-Simons syndrome is referred to by some physicians with the synonymous terms progressive cephalo-thoracic lipodystrophy and acquired partial lipodystrophy. Barraquer-Simons syndrome is usually accompanied by so-called lipatrophy in the affected individuals. In the case of Barraquer-Simons syndrome, this is specifically the loss of fatty tissue from the lower layers of the skin. In Barraquer-Simons syndrome, this loss of fat primarily affects the upper half of the human body, particularly the trunk and the face. At the same time, hypertrophy develops in the fatty tissue of the thighs. According to current knowledge, more than 250 persons with Barraquer-Simons syndrome are already known. It has been shown that Barraquer-Simons syndrome occurs about three times more frequently in female than in male patients. According to current research findings, an increased incidence of Barraquer-Simons syndrome in certain families cannot be assumed. In the majority of cases, the first symptoms of Barraquer-Simons syndrome start in the facial region. As the disease progresses, the signs of the disease move to the neck, arms and shoulder area. Finally, the typical symptoms also appear in the chest area. The first scientific descriptions of Barraquer-Simons syndrome were made by several physicians. These include Simons, Mitchell and Barraquer Roviralta. Following some of these physicians resulted in the common name of the syndrome today.

Causes

With regard to the current state of research, certain genetic factors primarily crystallize as possible causes for the development of Barraquer-Simons syndrome during life. Thereby, numerous conjectures amount to an involvement of specific genetic mutations in the pathogenesis. In particular, the gene LMNB2 is in the focus of attention. This gene is responsible for the coding of lamin B2. This is a specific protein that is an important component of the membrane of cell nuclei. Basically, women are affected by Barraquer-Simons syndrome much more frequently than men, namely about three times more often. The reasons for this unequal gender involvement have not yet been conclusively clarified.

Symptoms, complaints, and signs

Barraquer-Simons syndrome manifests itself in a wide range of different symptoms and characteristic signs of the disease. Particularly typical are the so-called lipodystrophy and hypoatrophy. In Barraquer-Simons syndrome, these phenomena primarily affect the fatty tissue of the lower skin areas. It is also striking that in the majority of cases the changes occur in the upper part of the body, i.e. mainly on the trunk, thorax and face. In addition, hypertrophy usually develops in the context of Barraquer-Simons syndrome, affecting the upper portion of the thigh. Basically, the first symptoms of Barraquer-Simons syndrome usually manifest in the facial area of the affected individuals. In addition, some patients affected by Barraquer-Simons syndrome experience diabetes mellitus, glomerulonephritis, a condition called sensorineural hearing loss, and hyperlipidemia. Epileptic seizures are also not uncommon in association with Barraquer-Simons syndrome. Characteristically, the symptoms of Barraquer-Simons syndrome first develop in child or adolescent patients. The symptoms usually spread from the face to other areas of the body. The shoulders, arms or thorax are often affected. In some cases, patients affected by Barraquer-Simons syndrome suffer from myopathy or exhibit reduced intelligence. In addition, abnormalities in the normal metabolic balance are known.Approximately 30 percent of patients with Barraquer-Simons syndrome develop what is known as mesangio-capillary glomerulonephritis. In some cases, patients have certain diseases of the immune system (so-called autoimmune diseases).

Diagnosis and course

The physician bases his or her diagnosis on the clinical symptoms of Barraquer-Simons syndrome. Blood analyses with laboratory evaluation of numerous parameters and characteristic values are particularly important. In the majority of cases, certain antibodies are present in individuals suffering from Barraquer-Simons syndrome. At the same time, reduced concentrations of the corresponding complements are detectable. In addition to the actual diagnosis, the physician also performs a differential diagnosis. In doing so, he excludes any confusion of Barraquer-Simons syndrome with Berardinelli-type lipodystrophy.

Complications

In most cases, Barraquer-Simons syndrome results primarily in a visual complication. This involves the accumulation of fatty tissue in the lower areas of the skin, which leads to inferiority complexes and lowered self-esteem in many people. This can lead to depression and other psychological disorders, if necessary. Similarly, Barraquer-Simons syndrome often leads to diabetes. Affected individuals in this case must change their diet and monitor blood glucose levels. If the diet is followed, there are usually no further complications or symptoms. In some cases, epileptic seizures also occur and hearing loss. Since the syndrome is already congenital, the development of the child is also delayed. Thus, most patients experience retardation and also decreased intelligence. Not infrequently, patients are then dependent on the help of other people in everyday life. The immune system is also weakened, so that infections and inflammations occur more easily. It is possible to remove the deformities through surgical procedures so that the patient feels comfortable with his or her body. Diabetes can also be treated relatively well. In Barraquer-Simons syndrome, the kidneys often need to be checked for function, as it is not uncommon for kidney failure to occur.

Treatment and therapy

The therapy of Barraquer-Simons syndrome is based on different approaches. Basically, cosmetic procedures are available to counteract the suffering of affected patients due to the visual abnormalities of the disease. Glomerulonephritis also requires that the functioning and performance of the kidneys be checked regularly. Any metabolic impairments that may be present are treated depending on the symptoms. Antihypertensives or insulin, for example, are used here. It is not yet possible to make reliable statements about the prognosis of Barraquer-Simons syndrome. However, there seems to be a correlation between the severity of the presenting nephropathy and the further course of the disease, which in the worst case leads to renal failure.

Outlook and prognosis

The prognosis of Barraquer-Simons syndrome is unfavorable. The cause of the disease is not considered to be conclusively understood. This makes it difficult to devise a curative therapy. Research results suggest that it is a genetic predisposition. This would complicate the search for a curative treatment because interventions in human genetics are prohibited for legal reasons. Since the disease is not considered curable, the efforts of medical professionals are focused on alleviating the accompanying symptoms. The goal is to improve the patient’s quality of life. In some cases, medication is used to treat the disease. This is a long-term therapy. As soon as the medication is discontinued, the patient’s state of health deteriorates considerably. The functioning of the organs should and in some cases must be ensured. Without medical care, in the worst case, the patient may lose his life due to organ failure. Additionally, cosmetic procedures are offered. These serve to support mental health, but have little effect on physical healing. If the patient suffers from developmental delays, targeted methods to build mental fitness can be utilized. The aim here is to build up the patient to cope with life as independently as possible and to take responsibility for his or her own life.

Prevention

To date, no preventive measures have been tested to prevent Barraquer-Simons syndrome.

Here’s what you can do yourself

According to the latest scientific findings, Barraquer-Simons syndrome is a congenital gene defect that usually manifests itself in the adolescent age of the affected person or even in childhood. A curative medical therapy is not yet possible at the present time, but the accompanying symptoms can be alleviated by medical treatment. For those affected, it is essential in terms of quality of life and life expectancy to place themselves in medical hands in the long term. Frequently, this syndrome leads to metabolic changes, or autoimmune diseases, as well as diabetes and kidney dysfunction. These accompanying symptoms must be medically monitored and treated. Patients should change their diet and monitor their blood glucose levels early on to counteract diabetes. Kidney function must be checked regularly to rule out further complications. Without medical care and regular monitoring, organ failure can occur with this syndrome. In Barraquer-Simons syndrome, a change in fatty tissue in the lower layers of the skin causes growths in the head and neck area. These massive optical changes lead to a reduced self-esteem, social withdrawal and a high level of suffering in most of those affected. In this case, it is advisable to seek psychological therapy at the first signs in order to counteract the growing psychological pressure that the symptoms of the disease can cause. In many cases, cosmetic surgery is also advised to alleviate the external symptoms and thus help the patient regain more self-confidence and quality of life. Since in many affected individuals, in whom the syndrome appeared in childhood, development is also delayed, a therapy of mental and intellectual abilities is started early on. This is intended to help patients achieve a qualitative, self-reliant lifestyle that is as independent as possible. However, due to the developmental delays, affected individuals are often dependent on assistance in everyday life. Thus, the therapeutic and medical approach in Barraquer-Simons syndrome focuses predominantly on alleviating external and internal symptoms and on preserving patients’ quality of life and independence.