Cerebral Cavernous Malformations: Patient-Reported Outcome Validates Conservative Management

Abstract

Background: Cerebral cavernous malformations (CCM) are clusters of dilated sinusoidal channels lined by a single layer of endothelium. In contradistinction to arteriovenous malformations, these lesions do not have smooth muscle or elastin in their lining and they are angiographically occult, and the MRI is the most sensitive test for CCM detection. CCM are one of the most prevalent vascular malformations of the central nervous system, affecting about 0.4-0.6% of the general population. The main complication of this malformation is the risk of bleeding, which may cause neurological deficits that affect the quality of life (QoL) in patients. When symtomatic, they may be surgically treated for relieving the mass effect and seizures refractory to drug uses, hemorrhage and drug-refractory epilepsy. Patient-reported outcome (PRO) may be a strategy that can be used to evaluate QoL of CCM population and was used in a sample of non-operated patients. Methods: An observational, cross-sectional analysis to evaluate the PRO using the SF-36 and EuroQol 5 dimensions (EQ-5D) questionnaires of QoL added to functional metrics using the Karnofsky Performance Status (KPS) in 49 patients not submitted to intervention and with long-term follow-up. Results: During the 364 person-years of follow-up, there was an average of individual follow-up of 7.42 years. The mean age was 46.8 years (18-84) - 57% of them were female, 71% had superficial lesions, and 65% had the familial form. Comparisons of SF-36 dimensions with KPS graded <100 had a worse score only in terms of the pain (p = 0.04), vitality (p = 0.001), and general state of health (p = 0.03) domains. The domain mental health was worse in patients without surgical indication (p = 0.032). The functional capacity domain had the highest overall grading in the group. The EQ-5D dimensions of mobility (p = 0.03) and pain/discomfort (p = 0.001) were the ones with lower score compared to KPS <100. Conclusion: The study is the first to evaluate, with validated tools, the PRO of non-operated CCM patients and has demonstrated in a selected group of patients that it was possible to achieve long-term clinical stability, thereby maintaining QoL and functional neurological outcome.

Health‐related quality of life in patients with untreated cavernous malformations of the central nervous system

“…All data were assessed according to reporting standards [16]. Our results are of clinical importance, as HRQOL and other psychological data of untreated CCM patients are barely available so far [17,18]. Such data are necessary to function as benchmarks when evaluating surgical or medical treatment options for CCM [12].…”

“…Bicalho et al . [17] presented SF‐36 and EuroQol 5 (EQ‐5D) analysis in 49 patients with untreated CCMs. They found decreased scores in pain, vitality and general health perception domains.…”

“…However, whilst reporting standards [16] and all larger previous series mainly focus on occurrence/rate of SH and functional impairment, the important clinical parameter health‐related quality of life (HRQOL) to estimate the burden of a disease has been nearly completely neglected in patients with CCM. Only few series [12,17–20], especially on postoperative HRQOL [12,19,20], exist.…”

Quality of life and mood assessment in conservatively treated cavernous malformation‐related epilepsy

“…Epileptic seizures can have a considerable impact on health‐related quality of life (HRQOL) (Mahrer‐Imhof et al., 2013), and treatment pathways should take into account not only neurological but also psychosocial burden. While the vast majority of CCM studies focus on different treatment strategies and risk factors leading to hemorrhage (Al‐Shahi Salman et al., 2016), literature reporting on HRQOL is rare (Bicalho et al., 2017; Rinkel et al., 2019). Recently published data highlight the impact of CCM disease on self‐reported quality of life but HRQOL and mood have never been studied exclusively in medically treated CRE patients (Herten et al., 2021).…”

<p>A novel PDCD10 gene mutation in cerebral cavernous malformations: a case report and review of the literature</p>

“…Cerebral cavernous malformations (CCMs) are one of the most common types of vascular malformation. The prevalence rate in the general population has been estimated 0.4–0.6%1 while it represents 5–15% of all vascular malformations of the central nervous system (CNS). 2 CCMs are featured enlarged and irregular small blood vessel.…”