Severe Hypertension Leading to Hemorrhagic Stroke in Neurofibromatosis Type 1

Faris, Mohamed; Baliss, Michelle; Coni, Robert; Nambudiri, Vinod E.

doi:10.7759/cureus.14658

Cited by 6 publications

(4 citation statements)

References 7 publications

(15 reference statements)

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“…Generally, ABPM is considered to be a reliable and stable diagnostic procedure to detect hypertension ( 31 ). Early diagnosis and understanding the etiologies of hypertension in patients with NF-1 is a prerequisite for blood pressure control, in avoid of poor outcome including hemorrhagic stroke, retinal arterial microaneurysms, end stage renal disease and so on ( 32 , 33 ). After summarizing the literature of eligible cohorts, case reports, case series and so on, the secondary causes of hypertension basically include renal aneurysm, renal arterial dysplasia, renal artery stenosis, aortic coarctation, pheochromocytoma, and middle aortic syndrome ( Figure 4B ).…”

Section: Discussionmentioning

confidence: 99%

Identification of NF1 Frameshift Variants in Two Chinese Families With Neurofibromatosis Type 1 and Early-Onset Hypertension

Zhang

Liu

et al. 2021

Front. Pediatr.

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Background: Neurofibromatosis type 1 (NF-1) is a common autosomal dominant disorder caused by mutations in the NF1 gene. It is characterized by multiple café-au-lait macules, cutaneous neurofibromas, optic glioma, Lisch nodules, and axillary and inguinal freckling. The aim of this study was to investigate NF1 mutations in two Chinese families with NF-1 who presented with early-onset hypertension, and to determine the prevalence of hypertension associated with NF-1 to better understand this complication.Methods: Whole-exome sequencing was performed for the probands with NF-1 from two unrelated families. Possible pathogenic mutation was predicted by bioinformatic tools. Sanger sequencing was used to confirm candidate variants in all available individuals for familial co-segregation analysis. We also performed a systematic literature review of studies that reported the prevalence of hypertension in patients with NF-1.Results: In family 1, a recurrent mutation c.6789_6792delTTAC in NF1 was identified in the proband but in no other family members, indicating that this is a de novo mutation. In family 2, a novel mutation c.6934_6936delGCAinsTGCT in NF1 was detected in the proband and two other family members, which co-segregated with the disease phenotype within the family. Both mutations were predicted to be pathogenic by bioinformatic analysis. We found hypertension was a relatively common complication of NF-1, with a prevalence range of 6.1–23.4%. Ambulatory blood pressure monitoring is a stable method for detecting initial alterations of the blood pressure pattern, particularly for pre-hypertension.Conclusions: We identified one recurrent (c.6789_6792delTTAC) and one novel frame-shift mutation (c.6934_6936delGCAinsTGCT) in two unrelated families with NF-1 using whole-exome sequencing. In consideration of phenotypic heterogeneity in NF-1, genetic testing is a robust tool which helps early and accurate diagnosis. Because hypertension is not a rare complication of NF-1, routine screening for hypertension in patients with NF-1, especially children and adolescents, is important to avoid serious cardiovascular events.

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Section: Discussionmentioning

confidence: 99%

Identification of NF1 Frameshift Variants in Two Chinese Families With Neurofibromatosis Type 1 and Early-Onset Hypertension

Zhang

Liu

et al. 2021

Front. Pediatr.

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“…Although essential hypertension is the most common type of hypertension in the general population, epidemiological studies on the association of essential hypertension and NF1 are sparse (Kenborg et al., 2020) and our knowledge is mainly based on case reports. For example, a recent report emphasizes the consequences of essential hypertension in NF1 by describing a patient whose essential hypertension led to hemorrhagic stroke at the age of 23 years (Faris et al., 2021).…”

Section: Introductionmentioning

confidence: 99%

Hypertension in NF1: A closer look at the primacy of essential hypertension versus secondary causes

Loponen,

Ylä‐Outinen,

Kallionpää

et al. 2023

Molec Gen & Gen Med

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BackgroundWe aimed to analyze hypertension in neurofibromatosis type 1 (NF1) in a Finnish population‐based cohort in 1996–2014.MethodsA cohort of 1365 individuals with confirmed NF1 was compared with a control cohort of 13,923 individuals matched for age, sex, and area of residence. Diagnoses of hypertension were retrieved from the Finnish Care Register for Health Care. These registered data were separately analyzed for secondary and essential hypertension. Purchases of antihypertensive drugs were queried from the Finnish Register of Reimbursed Drug Purchases.ResultsWe identified 115 NF1 patients with hospital diagnosis of hypertension. Our findings revealed a hazard ratio (HR) of 1.64 (95% CI 1.34–2.00, p < 0.001) in NF1 versus controls. NF1 patients presented with a significantly increased hazard for both secondary hypertension (n = 9, HR 3.76, 95% CI 1.77–7.95, p < 0.001) and essential hypertension (n = 98, HR 1.73, 95% CI 1.39–2.14, p < 0.001). No difference in the HR of hypertension was observed between men and women, while NF1 patients with essential hypertension were, on average, younger than the controls. The proportions of individuals with antihypertensive medication did not differ between NF1 patients and controls (OR 0.85).ConclusionNF1 is a risk factor for hypertension. Despite the recognized risk for secondary hypertension, essential hypertension is the predominant type in NF1.

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“…Cardiovascular disease is a frequent cause of premature death in individuals with NF1 [ 1 ] with can lead to early-onset cerebrovascular disease [ 2 ] such as hemorrhagic stroke even in young patients [ 3 ]. In the general population, potentially life-threatening cardiovascular events are clearly associated with hypertension and/or the blood pressure (BP) circadian pattern.…”

Section: Introductionmentioning

confidence: 99%

Blunted circadian variation of blood pressure in individuals with neurofibromatosis type 1

Rivera

Fernández‐Villa

Martín

et al. 2023

Orphanet J Rare Dis

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Background Cardiovascular events such as myocardial infarction and stroke are life-threatening complications associated with Neurofibromatosis type 1 (NF1). As previous studies observed an association between cardiovascular events and the loss of circadian variations of blood pressure, we investigated the 24 h circadian rhythm of blood pressure (BP) in 24 NF1 patients (10 males and 14 females, with a mean age of 39.5 years ± 14 years) by using ambulatory blood pressure monitoring (ABPM). Results Only one-third of the patient were dippers, 50% were non-dippers, and 17% were risers. Reduced variability of systolic and diastolic nocturnal blood pressure was observed in NF1 patients compared with several studies of normotensive individuals (p = 0.024). In NF1 patients, the blunted systolic nocturnal decline was significantly associated with the number of neurofibromas (p = 0.049) and the presence of a plexiform neurofibroma (p = 0.020). Conclusions Most NF1 patients in this study showed a “non-dipper” pattern with a blunted nocturnal BP decline, which is considered an independent risk factor for cardiovascular events in normotensive and hypertensive individuals. Periodic monitoring of BP should be included in NF1 follow-up guidelines to diagnose masked hypertension or a non-dipper/riser pattern which would significantly increase the morbidity and mortality of NF1 patients to implement therapeutic strategies.

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Severe Hypertension Leading to Hemorrhagic Stroke in Neurofibromatosis Type 1

Cited by 6 publications

References 7 publications

Identification of NF1 Frameshift Variants in Two Chinese Families With Neurofibromatosis Type 1 and Early-Onset Hypertension

Identification of NF1 Frameshift Variants in Two Chinese Families With Neurofibromatosis Type 1 and Early-Onset Hypertension

Hypertension in NF1: A closer look at the primacy of essential hypertension versus secondary causes

Blunted circadian variation of blood pressure in individuals with neurofibromatosis type 1

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