Treatment
Currently, there is no cure for RVCL-S. The treatment of RVCL-S is aimed to slow down disease progression and to limit secondary organ damage. This way RVCL-S patients can continue to carry out their daily activities for as long as possible. Caregivers can also support patients and their families.
Treatment of ophthalmological complaints
Existing retinal damage cannot be undone. It is of vital importance to try to prevent or slow down further retinal damage. This can be done by laser therapy or intravitreal injections.
In RVCL-S, retinal treatment can be necessary before patients develop complaints. Therefore, regular ophthalmological screening is advised to all RVCL-S patients, even if there are no visual complaints yet.
Laser therapy or intra-vitreal injections are used to try to slow down disease progression us much as possible. Medication to treat complications of the retinal damage can also be prescribed. For instance, eye drops can be necessary to treat glaucoma.
Treatment of neurological and psychiatric complaints
Neurologist and psychiatrist
Your neurologist will discuss what to do in case of focal neurological deficits. Treatment can be necessary, depending on the nature and cause of the complaints.
Some patients with RVCL-S suffer from depression or anxiety. Treatment by a psychologist or psychiatrist may relieve these complaints. A psychiatrist can also prescribe medication against depression and/or anxiety.
Stroke
The cause of a stroke is a blood cloth in a vessel in the brain, as a result a part of the brain no longer receives fresh blood. This causes acute neurological deficits. Standard treatment for stroke patients is to dissolve the blood clot and restore the blood flow to the brain with medication. This is called thrombolysis.
Thrombolysis is not recommended for RVCL-S patients, because the risk of severe bleeding is increased due to the damaged blood vessels. In addition, the neurological deficits in RVCL-S are often not caused by blood clots.
Some patients are advised to take blood thinners and/or other types of medication, depending on the findings after extensive examination. Your neurologist will also discuss other risk factors for heart and vascular disease.
Pseudotumor
A pseudotumor (or tumefactive lesion) is a large inflammatory process in the brain with surrounding edema. In a shared decision between patient and doctor, it can be decided to treat a pseudotumor with immunosuppressants. These immunosuppressant drugs can also diminish the surrounding edema. More information about pseudotumors can be found here.
Migraine
Migraine can be treated according to the standard treatment guidelines. There is no indication that triptans cannot be given as acute treatment. The use of the newest anti-migraine drugs is not recommended in RVCL-S. These drugs target the CGRP system, which has an important function in the homeostatis of blood vessels. Since the small blood vessel are damaged in RVCL-S, we are reluctant to start these anti-CGRP drugs in RVCL-S patients.
Treatment of systemic complaints
Anemia
Anemia or iron deficiency can be treated with oral or intravenous iron suppletion. In case of severe anemia, a blood transfusion may be required. The nephrologist and gastroenterologist may perform additional tests to find the cause of the anemia.
Hypertension
Hypertension can damage the kidneys, brain and eyes, that is why the blood pressure must be monitored. If the blood pressure is too high it can be lowered with lifestyle changes and/or anti-hypertensive drugs.
Liver-, thyroid- and kidney dysfunction
If patients suffer from severe liver-, thyroid- or kidney dysfunction, medication can help to prevent further deterioration or can help to treat the consequences of the organ dysfunction. However, most RVCL-S patients only develop mild systemic complaints and do not require treatment.
Raynoud’s phenomenon
Treatment of Raynaud’s phenomenon is not necessary for most patients. In case of severe complaints, certan specific drugs can be prescribed.
Help with processing and decision making
The diagnosis RVCL-S can be difficult to proces. The neurologist, clinical geneticist and genetic psychologist can support you with the making of important decisions. For example, whether or not you whish to know your mutation status or the possibilities in case of a whish for children.
Additional information?
Additional information about the treatment and care for RVCL-S patients can be found on the website of the CHA outpatient clinic of the LUMC.
RVCL-S research
Further research into RVCL-S is necessary to improve our understanding of the disease mechanism and to, ultimately, find a cure for RVCL-S. Therefore, at the LUMC we conduct both fundamental and clinical research into RVCL-S. More information about our research can be found here.