Rosai-Dorfman Syndrome

The Rosai-Dorfman Syndrome, also useful as Sinus histiocytosis is a form of proliferation of activated tissue macrophages (histiocytes) in the sinus of lymph nodes in the neck area, which occurs very rarely in Europe. The activated histiocytes envelop other immune cells without phagocytizing them. The causes of the mostly self-limiting disease, which mainly affects young people between the ages of 15 and 20, have not been adequately clarified.

What is Rosai-Dorfman Syndrome?

The Rosai-Dorfman Syndrome (RDS) or Rosai Dorfman disease is characterized by an initially unchecked increase in activated histiocytes in the sinus of lymph nodes, primarily in the head and neck area. In the sinus of the affected lymph nodes, healthy erythrocytes and lymphocytes are increasingly trapped by the histiocytes without being phagocytosed.

The enveloped immune cells and erythrocytes remain intact and functional. The process is also known as emperipolesis. In parallel to emperipolesis, there is a simultaneous strong increase in antibody-producing plasma cells and neutrophils, which are part of the innate immune system, in the sinus.

The immunophysiological processes in the sinus of the affected lymph nodes lead to their massive swelling. The name of the disease as Rosai-Dorfman syndrome goes back to the two American pathologists Juan Rosai and Ronald F. Dorfman, who first described the disease at the end of the 1960s and differentiated it from other diseases.

causes

The causes of Rosai-Dorfman syndrome are still largely unclear. It is also not clear why there are statistically no significant differences between the male and female population in the frequency distribution and why people with black skin are far more likely to suffer from Rosai-Dorfman syndrome.

A familial accumulation that would provide indications of a corresponding genetic disposition has not yet been observed. Some researchers suspect connections with immunologically relevant viral infections such as EBV or HIV, without such connections being able to be proven so far.

Just as little has been found to date that the disease occurs predominantly in the neck and head area, but that it also affects the skin, meninges, the upper respiratory tract, parotid glands, bone marrow and female mammary glands in around 40 to 50 percent of cases can. Involvement of the bones, cartilage and soft tissues outside the lymph nodes (extranodal) can lead to erosions in the affected tissue.

Symptoms, ailments & signs

The Rosai-Dorfman syndrome initially announces itself with unspecific symptoms such as clearly pronounced swelling of the lymph nodes (lymphadenitis) and similar symptoms. In addition, the illness may be accompanied by a fever and patients may experience weight loss.

If the upper airways are affected, dyspnea and breathing sounds (stridor) can set in. Cases have also been reported in which the eye socket (orbit) and the eyelids were affected, causing drooping eyelids (ptosis) and, in individual cases, visual disturbances.

Diagnosis & course of disease

Meaningful and reliable diagnosis of the presence of Rosai-Dorfman syndrome is mainly based on various laboratory values. The rate of sedimentation is increased and there is a pathologically increased concentration of certain monoclonal antibodies of the gamma serum proteins.

The main clue, however, lies in emperipolesis, the evidence that histiocytes in the affected lymph nodes envelop other immune cells without phagocytizing them. The course of the disease is usually benign and self-limiting. This means that despite some tissue damage and recurrences, spontaneous regression and healing can occur. Nevertheless, the death rate, which is given as around seven percent, is relatively high.

Complications

The symptoms of Rosai-Dorfman syndrome are unfortunately not particularly characteristic, so that the disease is diagnosed late in many cases. For this reason, early treatment is usually not possible. Those affected suffer primarily from a high fever and severely swollen lymph nodes. There is a general feeling of weakness and severe tiredness and fatigue.

Weight loss can also occur, which cannot be attributed to special circumstances. The patient's quality of life is significantly reduced due to Rosai-Dorfman syndrome. The airways are also weakened, which can lead to severe breathing difficulties. In the further course, visual disturbances also occur and in the worst case, those affected can go completely blind.

Unfortunately, a direct and causal treatment of Rosai-Dorfman syndrome is not possible. There are no particular complications in treating the symptoms. However, it is not possible to restrict all symptoms in every case. Usually, however, drugs and various therapies are used. It cannot be predicted whether the patient's life expectancy will be limited.

When should you go to the doctor?

Rosai-Dorfman syndrome only affects adolescents between the ages of 15 and 20. It leads to sinus histiocytosis as well as massive swelling of the lymph nodes that are affected. Seeking a doctor should be aimed for in Rosai-Dorfman syndrome when an adolescent suddenly has massively swollen lymph nodes, unexplained weight loss, fever, or breathing sounds. In addition, Rosai-Dorfman syndrome can lead to tissue growth in the neck and head area.

In the case of Rosai-Dorfman syndrome, however, sequelae on the skin, the upper respiratory tract, the meninges, the bone marrow or the parotid glands can also be found. The female mammary gland can also be affected. Tissue damage can result if the bones and cartilage as well as soft tissues outside the lymph nodes are affected.

A visit to the doctor is advisable if the symptoms mentioned above are met because around seven percent of those affected die from Rosai-Dorfman syndrome. In other cases the symptoms may disappear spontaneously. On the other hand, with Rosai-Dorfman syndrome, recurrences and increased risks of blindness or permanent tissue damage can occur.

Treatment & Therapy

Because the causes of Rosai-Dorfman syndrome are not known, it is hardly possible to specifically combat the cause. Treatment is not required in many cases where spontaneous healing occurs due to the self-limiting course of the disease. In the remaining cases, the use of cytostatic agents can be considered.

Most of them are corticosteroids that are administered to stop the disease from progressing. This type of therapy is particularly indicated in the approximately 40 percent of cases in which extranodal infestation occurs, i.e. infestation of tissue outside the lymph nodes.

If the cortisone administered does not lead to the hoped-for healing success and severely swollen lymph nodes cause problems, for example because they make breathing difficult or have other serious effects due to the occupancy of space, a carefully compiled combination chemotherapy or radiation therapy may be indicated in individual cases.

If an isolated infection of the bones, cartilage or other tissues has been diagnosed, an impending progression of the disease can under certain circumstances be stopped by an operative intervention. The diseased tissue is removed surgically or with minimally invasive methods. As a rule, the affected lymph nodes are then also removed to avoid recurrences. In addition, general, immune-boosting and metabolism-building measures are indicated.

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prevention

The Rosai-Dorfman syndrome is not only rare in Europe, it also manifests itself initially through rather unspecific symptoms such as lymphadenopathies and fever as well as abnormal laboratory values ​​that indicate inflammation. It is therefore likely that the symptoms are not a priori associated with the presence of Rosai-Dorfman syndrome.

Since there is also no clarity about the cause of the disease and one can only speculate, there are no direct preventive measures that could be recommended to prevent Rosai-Dorfman syndrome. If it is true that viral infections are responsible for the onset of the disease, all immune-boosting measures and behaviors can be considered preventive.

Aftercare

In the case of Rosai-Dorfman syndrome, it is important that those affected go to the follow-up examinations, as otherwise blindness or death can occur. Those affected can do a lot to ensure that their quality of life does not suffer from the disease in retrospect. The weight loss caused by the disease should be eliminated through a balanced diet.

The way of life should be changed significantly. Especially since they are mostly young people.Refraining from alcohol and nictation is very important in the disease. Those affected should also do sports to strengthen their immune system. The social environment should be extremely well looked after. Activities that sufferers enjoyed doing before the illness should be done with social contact. This greatly improves the quality of life.

If those affected cannot deal with the disease, it is advisable to undergo permanent psychological counseling. A psychologist can help people get their life back on the right track. Attending a self-help group is also recommended. There, those affected can exchange ideas with those who are also ill and compare their lifestyles. This can also help to live with the disease.

You can do that yourself

Since no triggering causes for this disease are known, only the individual symptoms can be treated by a doctor. It may be a consolation for the mostly adolescent patients that the disease often heals spontaneously. Until then, however, they should seek regular medical treatment, as Rosai-Dorfman syndrome can also have serious consequences for them and possibly lead to blindness or even death.

Regardless of the medical measures, the patients themselves can contribute a great deal to their recovery or at least to maintain their quality of life. On the one hand, patients should take care to compensate for any weight loss that may have occurred. Since the patients are usually under twenty years of age, they are not yet fully grown and have a higher caloric requirement than adults. This should be covered with as healthy, fresh foods as possible, which contain sufficient carbohydrates, healthy fats and many vitamins. Whole-grain bread, potatoes, vegetables, fruit, nuts and seeds as well as omega-3-containing oils such as linseed oil should therefore be on the menu.

In the fight against Rosai-Dorfman syndrome, everything that strengthens the immune system in addition to a conscious diet is helpful. Alcohol and nicotine are taboo and the patient should refrain from an excessive lifestyle, as is otherwise common for young people. Instead, it is advisable to get enough sleep and plenty of exercise in the fresh air.