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Cerebrovascular and cardiovascular disease burden in patients with hereditary hemorrhagic telangiectasia

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Abstract

Introduction

Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease with prevalence of approximately 1 in 5000–10,000. We evaluated the prevalence and association of cerebrovascular and cardiovascular comorbidities in HHT patients using national database.

Methods

Retrospective observational study was performed using National Inpatient Sampling (NIS) database for the year 2014. HHT patients and comorbidities were identified using ICD-9 codes. Univariate and multivariate analyses were performed using SAS.

Results

Prevalence of HHT was 0.0119% with predominance in White population. Mean age of HHT patients was 59 years. Increased proportion of HHT patients had hypertension (46.8% vs 42%), anemia (28.9% vs 15.1%), chronic pulmonary disease (24.8% vs 16.4%), congestive heart failure (15.7% vs 7.5%), liver disease (7.9% vs 2.8%), migraine (4.5% vs 1.5%), and cerebrovascular malformations (0.8% vs 0.03%), whereas chronic kidney disease (12.7% vs 12.2%), headaches (1.3% vs 1.1%), seizures (0.7% vs 0.9%), transient ischemic attacks (1.06% vs 1.03%), ischemic (1.2% vs 1.0%), and hemorrhagic (0.5% vs 0.3%) strokes were similar to those without HHT. Multivariable model shows increase in cerebrovascular malformations (OR 11.04, CI 2.49–22.26, p < 0.0001), migraine (OR 3.23, CI 2.30–4.52, p < 0.0001), chronic blood loss anemia (OR 6.83, CI 5.36–8.71, p < 0.0001), congestive heart failure (OR 1.55, CI 1.26–1.91, p < 0.0001), chronic pulmonary disease (OR 1.30, CI 1.09–1.56, p = 0.0038), and hepatic disease (OR 2.63, CI 2.01–3.45, p < 0.0001) in HHT patients as compared to non-HHT patients.

Conclusion

There is a need for a large prospective registry of HHT patients that can corroborate these associations and burden of cerebrovascular and cardiovascular diseases.

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Acknowledgements

The authors would like to thank the Clinical and Translational Science Center (CTSC) at the University of New Mexico for their support and statistical services.

Availability of data and material

All the data will be made available from the corresponding author upon reasonable request.

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Authors and Affiliations

  1. Department of Neurology, University of New Mexico Health Sciences Center, University of New Mexico, MSC-10-5620, 1 University of New Mexico, Albuquerque, NM, 87131, USA

    Mudassir Farooqui, Sajid Suriya, Ashley Wegele, Asad Ikram, Myranda Robinson & Atif Zafar

  2. Department of Neurology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA

    Mudassir Farooqui & Santiago Ortega-Gutierrez

  3. Department of Family and Preventive Medicine, University of Utah, Salt Lake City, UT, USA

    Fares Qeadan

  4. Harvard University, Cambridge, MA, USA

    Catherine Vigil

  5. Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

    Syed A. Quadri

  6. Division of Pulmonary and Critical Care, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA

    Josanna Rodriguez-Lopez

Authors
  1. Mudassir Farooqui
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  2. Sajid Suriya
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  10. Santiago Ortega-Gutierrez
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Contributions

CV, AW, and MR contributed in the literature search and initial preparation of the manuscript. FQ contributed in the statistical expertise and editing of the manuscript. MF, SS, AI, and AZ contributed in the concept, design, manuscript drafting, and editing. SAQ, JRL, SOG, and MT contributed in the critical review of the manuscript.

Corresponding author

Correspondence to Atif Zafar.

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Ethics statement

This secondary analysis of publicly available de-identified data was approved by the Ethics committee of the University of New Mexico

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The authors declare that they have no conflicts of interest.

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Farooqui, M., Suriya, S., Qeadan, F. et al. Cerebrovascular and cardiovascular disease burden in patients with hereditary hemorrhagic telangiectasia. Neurol Sci 42, 5117–5122 (2021). https://doi.org/10.1007/s10072-021-05135-z

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  • DOI: https://doi.org/10.1007/s10072-021-05135-z

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