Coronary atherosclerosis and dilation in hyper IgE syndrome patients: Depiction by magnetic resonance vessel wall imaging and pathological correlation.
Autosomal dominant hyper-IgE (AD-HIES) is a primary immunodeficiency caused by mutations in STAT3. Elevated levels of IgE, an ineffective immune response, connective tissue abnormalities, and coronary arterial dilation and tortuosity characterize AD-HIES. To date, coronary artery evaluation in AD-HIES patients has been limited to lumenography measurements. Direct in vivo coronary vessel wall (VW) imaging may allow for better interrogation of coronary vessel abnormalities. The goal of this prospective study was to evaluate the coronary VW of AD-HIES patients using Magnetic Resonance Imaging (MRI) and histology. VW image findings were compared in healthy subjects and subjects with coronary atherosclerotic disease (CAD).



A total of 28 subjects (10 with AD-HIES, 8 healthy, 10 with CAD) were studied by coronary VW MRI imaging. Additionally, a post-mortem coronary artery from one VW imaged AD-HIES patient was examined.



Coronary VW in AD-HIES was thicker than in healthy controls but not significantly different from VW thickness in CAD subjects. AD-HIES coronaries showed increased VW area compared to healthy controls and CAD subjects. On histology, the AD-HIES coronary artery had findings consistent with atherosclerotic plaque, but had minimal luminal narrowing, deficient adventitia thickening and absence of both internal and external elastic laminae.



This is the first study to demonstrate subclinical coronary atherosclerosis in AD-HIES patients on VW imaging by MRI. Histologic evaluation confirmed the presence of atherosclerosis with lack of supportive adventitial thickening and elastic components. These findings suggest mechanisms for coronary dilation in AD-HIES and thereby help direct clinical management.
National Institute of Diabetes and Digestive and Kidney Diseases, Biomedical and Metabolic Imaging Branch, United States.
Khaled Z
KZ
Abd-Elmoniem
National Institute of Diabetes and Digestive and Kidney Diseases, Biomedical and Metabolic Imaging Branch, United States.
Nadine
N
Ramos
University of South Alabama, United States.
Saami K
SK
Yazdani
National Institute of Diabetes and Digestive and Kidney Diseases, Biomedical and Metabolic Imaging Branch, United States; Electrical Engineering Department, Suez Canal University, Ismailia, Egypt.
Ahmed M
AM
Ghanem
National Institute of Allergy and Infectious Diseases, United States.
Steven M
SM
Holland
National Institute of Allergy and Infectious Diseases, United States.
Alexandra F
AF
Freeman
National Institute of Diabetes and Digestive and Kidney Diseases, Biomedical and Metabolic Imaging Branch, United States. Electronic address: agharib@mail.nih.gov.
Ahmed M
AM
Gharib
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D016022:Case-Control Studies; D000072226:Computed Tomography Angiography; D017023:Coronary Angiography / Q000379:methods; D003324:Coronary Artery Disease / Q000000981:diagnostic imaging / Q000209:etiology* / Q000473:pathology; D003331:Coronary Vessels / Q000187:drug effects* / Q000473:pathology*; D004108:Dilatation, Pathologic; D005260:Female; D006801:Humans; D007589:Job Syndrome / Q000150:complications* / Q000175:diagnosis; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D061330:Multidetector Computed Tomography; D058226:Plaque, Atherosclerotic; D011237:Predictive Value of Tests; D000074286:Preliminary Data; D011446:Prospective Studies; D055815:Young Adult
Autosomal dominant hyper-IgE (AD-HIES); Coronary arterial dilation; Coronary atherosclerotic disease; Coronary vessel wall imaging; Magnetic resonance imaging (MRI)