Table 3.
Recommended surveillance and treatment options of manifestations of RVCL-S.
| Concern | Evaluation1 | Treatment |
|---|---|---|
| Eyes | ||
| Retinopathy | Fundoscopy & FA | Retinal laser and/or anti-VEGF therapy |
| Macular edema | Fundoscopy & FA & OCT | Anti-VEGF therapy |
| Elevated eye pressure/glaucoma |
Fundoscopy & FA & IOP | Standard treatment |
| Neurologic | ||
| Focal neurological complaints | - Neurologic examination - MRI brain with Gd |
IVT therapy is not recommended |
| Tumefactive lesions | MRI brain with Gd | Consider corticosteroid therapy in case of tumefactive lesions with surrounding edema |
| Seizures | EEG | Standard treatment with anti-epileptic drugs |
| Cognitive decline | Assessment of cognition | Consider referral to neuropsychologist |
| Migraine | Thorough headache interview | Standard treatment (CGRP antagonists are contraindicated) |
| Cardiovascular | ||
| Blood pressure evaluation | Standard treatment for hypertension | |
| Renal disease | ||
| Renal function tests2 | - Standard treatment for kidney disease - Renal replacement therapy (incl. transplantation) may be considered for those with end-stage renal disease |
|
| Liver disease | ||
| - Liver enzymes3 & serum albumin - Ultrasound of liver |
- There is no treatment for liver enzyme abnormalities - Monitor to prevent complications associated with liver fibrosis and to exclude other causes |
|
| Anemia | ||
| - Hb, MCV, complete blood count, iron status - Gastroscopy and/or colonoscopy to screen for gastro-intestinal bleeding |
- Standard treatment - Intravenous iron therapy or blood transfusion - Coagulation of gastro-intestinal malformations |
|
| Hypothyroidism | ||
| TSH and free T4 | Thyroid replacement therapy | |
| Raynaud phenomenon | ||
| – | Standard treatment | |
| Other | ||
| Genetic counselling | – | Consider consultation with clinical geneticist and/or genetic counsellor |
| Psychiatric complaints | Assessment of psychiatric symptoms | - Standard treatment - Refer to psychiatrist or neuropsychologist |
CGRP = calcitonin gene-related peptide; EEG = electro-encephalography; FA = fluorescein angiography; Gd = gadolinium; Hb = hemoglobin; IOP = intra-ocular pressure; IVT = intravenous thrombolysis; MCV = mean corpuscular volume; MRI = magnetic resonance imaging; OCT = optical coherence tomography; TSH = thyroid stimulating hormone; VEGF = vascular endothelial growth factor.
Annual monitoring is advised starting in the 4th decade or as appropriate based on symptoms, more frequent monitoring may be necessary for individual patients.
Serum creatinine, blood urea nitrogen (BUN), urinanalysis.
Aspartate transaminase (AST), alanine transaminase (ALT), alkaline phosphatase, gamma-glutamyltransferase (GGT).