SESSION TITLE: Miscellaneous Student/Resident Case Report Posters III
SESSION TYPE: Medical Student/Resident Case Report
PRESENTED ON: Tuesday, October 29, 2013 at 01:30 PM - 02:30 PM
INTRODUCTION: CTEPH is a rare disease that is the most serious complication of unresolved pulmonary embolism (PE). The reason why some patients develop CTEPH after PE remains unknown. Infected intravascular devices, splenectomy, and non-heritable thrombophilias such as anticardiolipin antibodies, appear to increase the likelihood that a patient will develop CTEPH. However, investigators have not described CTEPH affecting more than one member of the same family. Here we describe a patient and her maternal aunt who represent the first description of familial CTEPH.
CASE PRESENTATION: Patient A was diagnosed with her first PE in 1985. In 1998 she was diagnosed with CTEPH at age 63. She was blood type A positive, had increased levels of fibrinogen and beta-2 microglobulin, and was ANA negative. She underwent pulmonary endarterectomy at UCSD Medical Center that same year. Unfortunately pulmonary hypertension (PH) persisted and in 2011 she died of chronic right ventricular failure. Patient B was diagnosed with acute PE in 2009 at age 53. Repeat CT pulmonary arteriography in 2010 showed persistent thrombus. She was diagnosed with CTEPH after pulmonary artery catheterization demonstrated PH. The patient underwent pulmonary endarterectomy at UCSD in 2011. Her maternal aunt is patient A. The patient’s brother died of a “blood clot to the heart” that was likely a PE. Her daughter had an unprovoked DVT.
DISCUSSION: There are several proposed etiologies of CTEPH, though the reason why some patients develop CTEPH is unknown. CTEPH has never been documented as an inherited disease, and to our knowledge this is the first documented familial case. With an incidence at 2-3 years of 1-4.6% (Korkmaz), a familial case may indicate a heritable disposition to CTEPH.
CONCLUSIONS: CTEPH may affect more than one member of a family. Additional research is needed to understand whether our case is a chance observation or represents a heritable predisposition to CTEPH.
Reference #1: Korkmaz A, Ozlu T, Ozsu S, et al. Long-Term Outcomes in Acute Pulmonary Thromboembolism: The Incidence of Chronic Thromboembolic Pulmonary Hypertension and Associated Risk Factors. Clin Appl Thromb Hemost 2012; 18:281-288.
DISCLOSURE: The following authors have nothing to disclose: Julianna Desmarais, Greg Elliott
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