Risk of Atherosclerosis in Patients with Ataxia Telangiectasia

Andrade, Itana Gomes Alves; Costa‐Carvalho, Beatriz Tavares; Silva, Rosangela da; Hix, Sonia; Kochi, Cristiane; Souza, Fabíola Isabel Suano de; Sarni, Roseli Oselka Saccardo

doi:10.1159/000430790

Cited by 26 publications

(25 citation statements)

References 25 publications

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“…After reviewing the full-text articles, 21 articles (19 studies) were included in this meta-analysis (Figure 1) [8,9,10,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33]. …”

Section: Resultsmentioning

confidence: 99%

The Association between the Lipids Levels in Blood and Risk of Age-Related Macular Degeneration

Wang

Zhang

et al. 2016

Nutrients

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Lipid metabolism may be involved in the pathogenic mechanism of age-related macular degeneration (AMD). However, conflicting results have been reported in the associations of AMD with blood lipids. We performed a meta-analysis including a total of 19 studies to evaluate associations between blood lipids and this disease. The result reported that the high level of high-density lipoprotein cholesterol (HDL-C) obtained with an increment of 1 mmol/L could result in a significantly increase in the AMD risk of approximately 18% (relative risk (RR), 1.18; 95% confidence interval (CI), 1.01 to 1.35; I2 = 53.8%; p = 0.007). High levels of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and triglycerides (TG) were significantly associated with a decreased risk of AMD (RRs ranging from 0.92 to 0.95; all p < 0.05). The stratified analysis based on AMD subtypes showed that these blood lipids were only significantly associated with the risk of early AMD (all p < 0.05). The association between the blood lipids and AMD risk did not differ substantially based on the other characteristics of the participants. A high HDL-C level was associated with an increased AMD risk, whereas participants with high TC, LDL-C, and TG concentrations may show a decreased risk for this disease. Further well-designed large studies are warranted to confirm the conclusions.

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“…After reviewing the full-text articles, 21 articles (19 studies) were included in this meta-analysis (Figure 1) [8,9,10,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33]. …”

Section: Resultsmentioning

confidence: 99%

The Association between the Lipids Levels in Blood and Risk of Age-Related Macular Degeneration

Wang

Zhang

et al. 2016

Nutrients

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“…136 Insulin resistance is reported in adult patients with classic ataxia-telangiectasia. 1,140 Recently, dyslipidemia and lower levels of vitamin E were reported in a small series of patients, 141 contrasting with previous studies that described normal cholesterol levels. 1,140 Recently, dyslipidemia and lower levels of vitamin E were reported in a small series of patients, 141 contrasting with previous studies that described normal cholesterol levels.…”

Section: Endocrinology Backgroundmentioning

confidence: 93%

“…56,[137][138][139] Thyroid and adrenal functions are generally normal. 1,140 Recently, dyslipidemia and lower levels of vitamin E were reported in a small series of patients, 141 contrasting with previous studies that described normal cholesterol levels. 1…”

Section: Endocrinology Backgroundmentioning

confidence: 93%

Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

Haaxma

Flier

et al. 2017

Develop Med Child Neuro

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Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency, progressive respiratory failure, and an increased risk of malignancies. It demands specialized care tailored to the individual patient's needs. Besides the classic ataxia-telangiectasia phenotype, a variant phenotype exists with partly overlapping but some distinctive disease characteristics. This guideline summarizes frequently encountered medical problems in the disease course of patients with classic and variant ataxia-telangiectasia, in the domains of neurology, immunology and infectious diseases, pulmonology, anaesthetic and perioperative risk, oncology, endocrinology, and nutrition. Furthermore, it provides a practical guide with evidence- and expert-based recommendations for the follow-up and treatment of all these different clinical topics.

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“…Of particular note, liver abnormalities, such as elevated serum transaminase levels, steatosis and non-alcoholic cirrhosis including fibrotic changes have been observed as people with A-T age, as have elevated triglyceride and cholesterol levels [3, 86, 87]. …”

Section: Introductionmentioning

confidence: 99%

Ataxia telangiectasia: a review

Rothblum-Oviatt

Wright²,

Lefton‐Greif

et al. 2016

Orphanet J Rare Dis

487

488

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Definition of the diseaseAtaxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome.EpidemiologyThe world-wide prevalence of A-T is estimated to be between 1 in 40,000 and 1 in 100,000 live births.Clinical descriptionA-T is a complex disorder with substantial variability in the severity of features between affected individuals, and at different ages. Neurological symptoms most often first appear in early childhood when children begin to sit or walk. They have immunological abnormalities including immunoglobulin and antibody deficiencies and lymphopenia. People with A-T have an increased predisposition for cancers, particularly of lymphoid origin. Pulmonary disease and problems with feeding, swallowing and nutrition are common, and there also may be dermatological and endocrine manifestations.EtiologyA-T is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which encodes a protein of the same name. The primary role of the ATM protein is coordination of cellular signaling pathways in response to DNA double strand breaks, oxidative stress and other genotoxic stress.DiagnosisThe diagnosis of A-T is usually suspected by the combination of neurologic clinical features (ataxia, abnormal control of eye movement, and postural instability) with one or more of the following which may vary in their appearance: telangiectasia, frequent sinopulmonary infections and specific laboratory abnormalities (e.g. IgA deficiency, lymphopenia especially affecting T lymphocytes and increased alpha-fetoprotein levels). Because certain neurological features may arise later, a diagnosis of A-T should be carefully considered for any ataxic child with an otherwise elusive diagnosis. A diagnosis of A-T can be confirmed by the finding of an absence or deficiency of the ATM protein or its kinase activity in cultured cell lines, and/or identification of the pathological mutations in the ATM gene.Differential diagnosisThere are several other neurologic and rare disorders that physicians must consider when diagnosing A-T and that can be confused with A-T. Differentiation of these various disorders is often possible with clinical features and selected laboratory tests, including gene sequencing.Antenatal diagnosisAntenatal diagnosis can be performed if the pathological ATM mutations in that family have been identified in an affected child. In the absence of identifying mutations, antenatal diagnosis can be made by haplotype analysis if an unambiguous diagnosis of the affected child has been made through clinical and laboratory findings and/or ATM protein analysis.Genetic counselingGenetic counseling can help family members of a patient with A-T understand when genetic testing for A-T is feasible, and how the test results should be interpreted.Management and prognosisTreatment of the neurologic problems associated wit...

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Risk of Atherosclerosis in Patients with Ataxia Telangiectasia

Cited by 26 publications

References 25 publications

The Association between the Lipids Levels in Blood and Risk of Age-Related Macular Degeneration

The Association between the Lipids Levels in Blood and Risk of Age-Related Macular Degeneration

Ataxia‐telangiectasia: recommendations for multidisciplinary treatment

Ataxia telangiectasia: a review

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