Hereditary Thrombophilia Testing Among Hospitalized Patients: Is It Warranted?

Omar K Abughanimeh; Rosalyn I Marar; Mohammad Tahboub; Anahat Kaur; Ayman Qasrawi; Mouhanna Abu Ghanimeh; Timothy Pluard

doi:10.7759/cureus.24855

Hereditary Thrombophilia Testing Among Hospitalized Patients: Is It Warranted?

Cureus. 2022 May 9;14(5):e24855. doi: 10.7759/cureus.24855. eCollection 2022 May.

Authors

Omar K Abughanimeh¹, Rosalyn I Marar², Mohammad Tahboub³, Anahat Kaur⁴, Ayman Qasrawi⁵, Mouhanna Abu Ghanimeh⁶, Timothy Pluard⁷

Affiliations

¹ Hematology and Medical Oncology, University of Nebraska Medical Center, Omaha, USA.
² Internal Medicine, University of Nebraska Medical Center, Omaha, USA.
³ Pulmonary and Critical Care Medicine, Tulane University School of Medicine, New Orleans, USA.
⁴ Hematology and Medical Oncology, Albert Einstein College of Medicine - Jacobi Medical Center, New York City, USA.
⁵ Internal Medicine/Hematology Oncology, University of Kentucky, Lexington, USA.
⁶ Gastroenterology, Sanford USD Medical Center, Sioux Falls, USA.
⁷ Hematology and Oncology, Saint Luke's Hospital, Kansas City, USA.

Abstract

Background Hereditary thrombophilias (HTs) are a group of inherited disorders that predispose the carrier to venous thromboembolism (VTE). It is estimated that 7% of the population has some form of HT. Although testing for HT has become routine for many hospitalized patients, knowing when to order the tests and how to interpret the results remains challenging. In the United States, there are no clear guidelines regarding testing for HT. We conducted a study to evaluate the utilization of HT testing among hospitalized patients to examine its impact on immediate management decisions and overall cost burden. In addition, we discuss the common reasons for healthcare providers to order these tests and review the data behind these reasons in the literature. Methodology A retrospective analysis of 2,402 patients who underwent HT testing between February 1, 2016, and January 31, 2018, was conducted. Eligible patients had at least one HT test ordered during hospitalization. The primary outcome was to determine the incidence of positive actionable tests. A positive actionable test was defined as a positive result that changed the anticoagulation intensity, type, or duration. Patients with a history of previous VTE, ongoing medical conditions requiring life-long anticoagulation, or unprovoked VTE were considered non-actionable. Results Among the 2,402 patients, 954 patients met the inclusion criteria with a mean age of 54 years. A total of 397 (41.6%) tests were ordered for acute VTE, while the rest were for non-VTE conditions, such as stroke, pregnancy complications, peripheral artery diseases, and others. Only 89 positive tests were actionable (14% of the positive tests, and 9.3% of the total ordered tests). There was a statistically significant association between increasing age and having both a positive test result (p = 0.006) and an actionable test (p = 0.046). The total cost of ordering these tests was estimated to be $566,585. Conclusions HT testing in the inpatient setting did not alter management in many cases and was associated with increased healthcare costs. The decision to order these tests should be individualized based on the clinical scenario.

Keywords: hereditary thrombophilia; inherited thrombophilia; testing for thrombophilia; thrombosis; venous thromboembolism (vte).