Summary Neurosarcoïdose

Background

Sarcoidosis that affects the nervous system is called neurosarcoidosis. The nervous system consists of the brain, spinal cord, and nerves that control muscles and transmit sensations. Just as sarcoidosis can affect any organ in the body, it can also impact any part of the nervous system. Below, you will find information about this form of sarcoidosis, as well as details about the scientific research we are conducting and the procedures at the neurology outpatient clinic.

What is (neuro)sarcoidosis?

In people with sarcoidosis, there is a disorder of the immune system that leads to accumulations of inflammatory cells, also known as granulomas. These granulomas can occur throughout the body and affect any organ, causing damage and scarring. The cause of the disease is currently unknown, but it is thought to be an excessive response to an unknown trigger in susceptible individuals. These granulomas usually occur in the lungs, but the skin and eyes are also commonly affected. In about 1 in 20 sarcoidosis patients, the nervous system is affected, which is called neurosarcoidosis. The presentation and severity of the disease vary greatly from person to person. If the granulomas are in the brain, sarcoidosis can cause facial palsy, meningitis, or epilepsy. If the inflammatory cells are in the spinal cord, this can lead to paraplegia with muscle weakness in the legs. Small nerve branches in the feet may also be damaged, leading to altered sensation and pain.

Is there a treatment?

If the diagnosis of neurosarcoidosis is likely, treatment may be necessary. The treatment for sarcoidosis involves medications that suppress the immune system, such as prednisone. Prednisone is a fast-acting hormone that suppresses the immune system and can be prescribed in a pulse therapy with an IV or in tablets. Often, a combination of both is needed to quickly and effectively suppress the disease. If the disease cannot be controlled with prednisone or if long-term treatment is needed, a second medication that suppresses the immune system in a different way, such as methotrexate or azathioprine, can be given. These drugs are also used in other immune system diseases like rheumatoid arthritis. For very stubborn sarcoidosis, doctors may choose to administer specific powerful antibodies like infliximab. Neurosarcoidosis is a serious disease, with one in three people not recovering sufficiently despite treatment.

Goal of the neurosarcoidosis referral center 

Care for people with neurosarcoidosis is complex, as it often involves multiple specialists such as neurologists, pulmonologists, rheumatologists, and ophthalmologists. Because the disease is relatively rare, we believe that care for this complex disease is best provided in a few specialized hospitals. We aim to improve care for patients with neurosarcoidosis. Therefore, we established a referral center for neurosarcoidosis in the summer of 2015, which includes a specific outpatient clinic for people with neurosarcoidosis. We also started scientific research projects to improve the diagnosis and treatment of this disease.

Scientific research

Sarcoidosis is a complex disease, and much about it remains unknown. The diagnosis can sometimes be very difficult. In some cases, a definitive diagnosis requires tissue examination, where granulomas can be seen under a microscope. However, obtaining such tissue can be difficult or risky, especially when it involves brain or nerve tissue in neurosarcoidosis. Not all patients respond well to treatment, particularly in some rare forms of sarcoidosis. The long-term development of the disease and the effects of treatment are also unclear. To better understand the disease, we conduct scientific research into chronic inflammatory diseases like sarcoidosis. We collect clinical data from patients with neurosarcoidosis and follow them over time. We also gather blood and cerebrospinal fluid left over from regular diagnostics for additional analysis. This helps us in proving the diagnostic process of the disease.

What research do we conduct?

Our scientific research focuses on both the origin and course of the disease. We conduct genetic research in families with a high incidence of neurosarcoidosis to understand why some people are more susceptible to developing the disease. To better understand the symptoms and progression, we first compiled knowledge from international literature to define the disease more clearly in a meta-analysis. We have also described our own experiences with the disease based on the expertise we have developed over the years. We have established a biobank to collect body materials such as blood and cerebrospinal fluid, as well as data on symptoms, disease progression, and treatment. In diagnosing neurosarcoidosis, we aim to identify markers in cerebrospinal fluid that can aid in quicker diagnosis. We are systematically evaluating the value of various diagnostic tests and looking for new ways to diagnose sarcoidosis in cerebrospinal fluid, such as by measuring proteins characteristic of sarcoidosis. We also study the value of PET-CT scans for diagnosis and treatment evaluation and collaborate with Erasmus MC to assess the efficacy of antibody therapy like infliximab. Our goal is to improve patient care through patient-centered research.

What do we expect from you?

During your visit to Amsterdam UMC, you may be asked to participate in research on neurosarcoidosis. This means we may ask for permission to use your anonymous data. Both children and adults suspected of having neurosarcoidosis can participate. A biobank study involves collecting body materials from patients for various types of research. We use cerebrospinal fluid left over from lumbar punctures performed as part of normal diagnostic procedures. Often, we take extra cerebrospinal fluid during a lumbar puncture so that we do not need to repeat the procedure for additional tests. In many cases, no additional tests are needed. We use this leftover cerebrospinal fluid for research. Any material obtained during a biopsy will also be included in the biobank. Additionally, data on clinical characteristics, additional tests, disease progression, and treatment will be collected.

Does this research involve any risks?

After obtaining consent from the patient or their representative, cerebrospinal fluid left over from a lumbar puncture will be stored for further research. No new lumbar puncture is needed for this research. A new lumbar puncture will only be performed if additional examination of cerebrospinal fluid is necessary for diagnosis or treatment evaluation. The remaining material will be stored in our biobank. Blood will also be collected for DNA analysis, ideally combined with blood draws needed for normal patient care to avoid extra needle pricks. Therefore, these additional tests carry no risks.