ABSTRACT
BACKGROUND AND OBJECTIVES: Hereditary hemorrhagic telangiectasia (HHT) is an inherited disease associated with pathogenic variants in transforming growth factor-ß signaling pathway-related genes, resulting in abnormal vascular development in various organs. Brain arteriovenous malformations (AVMs) may lead to intracranial hemorrhage, and brain abscess or ischemic stroke may result from right to left shunting via pulmonary AVMs. We aimed to investigate the risk for these severe complications in both adults and children with HHT. METHODS: We conducted a case-control study among participants aged 1-64 years in the MarketScan Commercial (2006-2019) and Multistate Medicaid Databases (2011-2019). We identified cases with HHT using International Classification of Diseases, Ninth/Tenth Revision, Clinical Modification (ICD-9/10) diagnosis codes (ICD-9-CM 448.0, ICD-10-CM I78.0). Control patients without HHT coding were frequency matched 10:1 to patients with HHT by age, duration of insurance enrollment, sex, and Medicaid status. Outcomes of interest (brain abscess, stroke, and intracranial/subarachnoid hemorrhage) were identified using the appropriate ICD-9/10 diagnosis codes. We calculated incidence and standardized rates of the various outcomes and compared rate ratios (RRs) between HHT cases and controls. RESULTS: A total of 5,796 patients with HHT, of whom 588 were children (age younger than 16 years), were matched with 57,960 controls. There was an increased incidence of brain abscesses in HHT cases compared with controls, with an RR of 35.6 (95% CI 15.4-82.5). No brain abscesses were recorded in children aged 15 years or younger. Hemorrhagic strokes/subarachnoid hemorrhages were more common in HHT cases, with an RR of 4.01 (95% CI 2.8-5.7) in adults and 60.2 (95% CI 7.2-500.4) in children. Ischemic strokes were also more common in cases, with an RR of 3.7 (95% CI, 3.0-4.5) in adults and 70.4 (95% CI 8.7-572.3) in children. DISCUSSION: We observed a much higher incidence of severe CNS vascular complications in patients with HHT, particularly in children. Although a higher incidence of brain abscesses was noted in adult patients with HHT, no brain abscesses were recorded in children, a result that may be considered when surveillance recommendations for this population are revisited.
Subject(s)
Arteriovenous Malformations , Brain Abscess , Ischemic Stroke , Stroke , Subarachnoid Hemorrhage , Telangiectasia, Hereditary Hemorrhagic , Adult , Humans , Child , Telangiectasia, Hereditary Hemorrhagic/complications , Telangiectasia, Hereditary Hemorrhagic/epidemiology , Telangiectasia, Hereditary Hemorrhagic/diagnosis , Case-Control Studies , Arteriovenous Malformations/complications , Stroke/complications , Brain Abscess/complications , Ischemic Stroke/complications , Subarachnoid Hemorrhage/complicationsABSTRACT
BACKGROUND: Mechanical shunting of cerebrospinal fluid is an effective treatment for hydrocephalus. Some studies suggest that bradycardia without hypertension may also be observed in ventriculoperitoneal (VP) shunt malfunction; however, in our experience, this is not a common presenting sign. OBJECTIVE: The aim of this study was to evaluate whether bradycardia without hypertension was a common sign in patients presenting to the pediatric emergency department (ED) with a VP shunt malfunction. METHODS: A retrospective observational study, from May 2006 to April 2015, which included a random sample of children admitted to the ED with clinical features suggestive of possible VP shunt malfunction. Control patients were defined as those who arrived at our ED with suspected VP shunt malfunction that was later ruled out on further workup. RESULTS: A total of 65 patients were included in this study. A significantly greater number of patients with a confirmed shunt pathology presented with vomiting (P = 0.01) and lethargy/apathy (P = 0.01). In the control group, a significantly greater number of patients presented with fever (P = 0.004) and seizures (P = 0.02). The number of patients presenting with bradycardia was not significantly different between the shunt pathology and control groups (P > 0.05). CONCLUSIONS: Bradycardia is not a common presentation in patients with VP shunt malfunction. Bradycardia is often recognized as a significant sign; however, it is one of the last presenting signs. Educating patients about the early signs must be considered as part of the treatment for VP shunt malfunction.
