Cleveland Clinic Physical Examination Findings in Fibromuscular Dysplasia: Cleveland, Ohio A Report from the United States Fibromuscular Dysplasia Patient Registry

Stacey L. Poloskey1, Jeffrey W. Olin2, James B. Froehlich3, Xiaokui Gu3, Michael Bacharach4, Bruce Gray5, Mark A. Grise6, Michael R. Jaff7, Esther SH Kim1, Eva Kline-Rogers3, Pamela D. Mace8, Alan Matsumoto9, Robert McBane10, Thom W. Rooke10, Healther L. Gornik1.

1Cleveland Clinic Foundation, Cleveland, OH; 2Mount Sinai Medical Center, New York, NY; 3University of Michigan, Ann Arbor, MI; 4North Central Heart, Sioux Falls, SD; 5Greenville Hospital System, Greenville, SC; 6Ochsner Clinic, New Orleans, LA; 7Massachusetts General Hospital, Boston, MA; 8Fibromuscular Dysplasia Society of America (FMDSA), Rocky River, OH; 9University of Virginia Health System, Charlottesville VA, 10Mayo Clinic, Rochester, MN.

. Fibromuscular dysplasia (FMD) is an uncommon, non- . A multi-center registry of FMD patients formed in 2008. Presenting Symptoms and Signs Leading to the Diagnosis Accuracy of Epigastric and/or Flank Bruit in Predicting inflammatory arterial disease that most frequently occurs of FMD (N = 447) Renal and/or Mesenteric FMD Among Patients who Underwent Imaging in middle-aged women. . Michigan Cardiovascular Outcomes Research and Hypertension 63.8% Reporting Program (MCORRP) serves as the Imaging Imaging Total Headache 30.2% . Any artery can be affected, however, the renal and coordinating center. Positive for Negative for carotid arteries are most commonly involved. FMD FMD . A standardized data collection form including physical Pulsatile tinnitus 27.5% . May lead to arterial stenosis, dissection, or aneurysm. examination completed for each patient at the time of Flank/abdominal pain 15.7% Epigastric and/ 63 5 68 enrollment. or Flank Bruit . Abnormal physical examination findings may be found in Cervical bruit 22.2% patients with FMD and include elevated blood pressure, . On-line data entry environment (Drupal) into MySQL Epigastric bruit 9.4% No Epigastric 199 70 269 arterial bruits, and neurological deficits. database maintained by MCORRP. and/or Flank Bruit . Medial fibroplasia, the most common variant, is . Physical examination findings are reported for the first Physical Examination Findings at Enrollment characterized by a “string of beads” appearance on 447 patients enrolled from 9 U.S. clinical centers. (N = 414 with documented physical examinations) Total 262 75 337 arterial imaging (Figure 1). Horner’s syndrome (pupil abnormality or 12.4% . FMD diagnosis confirmed with imaging for all patients Sensitivity = 63/262 = 24.0% Specificity = 70/75 = 93.3% ptosis) . Intimal fibroplasia, which is relatively uncommon, results (angiography, CTA, MRA, or duplex US). in concentric stenosis (Figure 2). Cranial nerve abnormality 9.4% PPV = 63/68 = 92.6% NPV = 70/269 = 26.0% . Summary statistics presented as means + standard . The objectives of this study were to determine the deviations and percentages. Focal neurological deficit 13.6% frequency of physical examination findings among Carotid bruit 30.5% . The sensitivity, specificity, positive predictive value patients with FMD as well as their diagnostic accuracy. Bilateral 18.1% (PPV), and negative predictive value (NPV) of bruits in predicting FMD were determined. Epigastric bruit 17.5% . Abnormal physical examination findings are common in patients with FMD. Flank bruit 6.1% Bilateral 3.2% . Carotid bruits have a low sensitivity but high specificity in predicting the presence of cerebrovascular FMD. Pedal pulse deficit (dorsalis pedis and/or 5.0% posterior tibial) Patient Demographics and Comorbidities (N = 447) . Similarly, epigastric and/or flank bruits have a low sensitivity but high specificity in predicting the presence Mean age at enrollment (years) 55.7 +13.1 Accuracy of Carotid Bruit in Predicting Extracranial Carotid of renal and/or mesenteric FMD. FMD in Patients who Underwent Imaging Female gender 91.0% . In the appropriate clinical setting (i.e. middle-aged Imaging Imaging Total Caucasian 95.4% women with hypertension, headaches, or pulsatile Positive for Negative for tinnitus), bruits may indicate the presence of FMD in a 2 FMD FMD Mean body mass index (kg/m ) 25.5 + 5.2 particular vascular bed. 2 Body mass index > 25 kg/m 48.8% Carotid Bruit 103 5 108 Mean blood pressure (mm Hg) 130/75 + 20/12.4 No Carotid Bruit 124 74 198 > 1 Anti-hypertensive medication 77.9% Total 227 79 306 Sponsor: Fibromuscular Dysplasia Society of America History of headache 60.0% (FMDSA), a non-profit organization. Figure 1: Medial fibroplasia. Figure 2: Intimal fibroplasia. Sensitivity = 103/227 = 45.4% Specificity = 74/79 = 93.7% Arteriogram showing “string Arteriogram showing concentric History of arterial dissection 18.3% Disclosure: Drs. Gornik and Olin are volunteer medical of beads” in internal stenosis in internal advisory board members to the FMDSA. Ms. Pamela carotid artery. carotid artery. History of arterial aneurysm 17.0% PPV = 103/108 = 95.4% NPV = 74/198 = 37.4% Mace is a paid employee of FMDSA.