Thursday, March 22, 2012
QD: News Every Day--Marfan syndrome eludes primary care diagnoses
Primary care doctors are only catching one in four cases of Marfan syndrome, and 12% of patients are diagnosed only after the death of a family member.
The National Marfan Foundation surveyed 1,369 Marfan syndrome patients in February to better understand the diagnosis patterns of people with Marfan syndrome.
Early diagnosis, along with new drugs and surgeries, have led to longer life expectancies, but physicians may still rely on decades-old medical school training to spot the symptoms, the chair of the Foundation's professional advisory board said in a press release.
There's a distinct knowledge gap, since the Foundation pointed out that nearly 70% of Marfan's patients report that they were diagnosed before the age of 20. But 18% of respondents said it took an aortic dissection to raise clinical suspicion.
One survey participant explained that, even though the child had a parent with Marfan syndrome and the parents noted that the child had Marfan features, a pediatrician attributed the symptoms to other benign causes. A kindergarten vision exam resulted in a visit to the ophthalmologist, who then sent him to the cardiologist, who confirmed the diagnosis.
The three signs that most often raised the suspicion of Marfan syndrome were long limbs (73%), long, flexible fingers (68%) and height (64%), while indented or protruding chest bone (45%) and scoliosis (33%) were also mentioned.
One-third of respondents (33%) responded that ectopia lentis was the first feature to raise a suspicion of Marfan syndrome. Eye care providers were the first to suspect Marfan syndrome in nearly 20% of cases.
4% of respondents said that a doctor in the emergency department was the first to suspect Marfan syndrome, while in 8%, a relative was the first to suspect the condition.
Simplified diagnostic criteria appeared in the The Journal of Medical Genetics in 2010. This includes a systemic score that assigns Marfan features a numeric value that culminate in a total score. Three significant changes include:
--Aortic root dilatation/dissection and ectopia lentis are weighted more heavily than other characteristics;
--There is a more precise role for molecular testing; and
--Less specific manifestations of Marfan syndrome are either removed or given much less weight in the evaluation process.
Before, evaluation of features were called major or minor.
A mobile website features a summary of the new diagnostic criteria, including seven simple formulae for diagnosing Marfan syndrome, an interactive Systemic Score Calculator, a Z-score calculator used to determine the size of the aorta compared to body surface area, and key points about the role of genetic testing and family history.
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Albert Fuchs, MD, FACP, graduated from the University of California, Los Angeles School of Medicine, where he also did his internal medicine training. Certified by the American Board of Internal Medicine, Dr. Fuchs spent three years as a full-time faculty member at UCLA School of Medicine before opening his private practice in Beverly Hills in 2000.
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Amanda Xi, ACP Medical Student Member, is a first-year medical student at the OUWB School of Medicine, charter class of 2015, in Rochester, Mich., from which she which chronicles her journey through medical training from day 1 of medical school.
Zackary Berger, MD, ACP Member, is a primary care doctor and general internist in the Division of General Internal Medicine at Johns Hopkins. His research interests include doctor-patient communication, bioethics, and systematic reviews.
Controversies in Hospital
Run by three ACP Fellows, this blog ponders vexing issues in infection prevention and control, inside and outside the hospital. Daniel J Diekema, MD, FACP, practices infectious diseases, clinical microbiology, and hospital epidemiology in Iowa City, Iowa, splitting time between seeing patients with infectious diseases, diagnosing infections in the microbiology laboratory, and trying to prevent infections in the hospital. Michael B. Edmond, MD, FACP, is a hospital epidemiologist in Richmond, Va., with a focus on understanding why infections occur in the hospital and ways to prevent these infections, and sees patients in the inpatient and outpatient settings. Eli N. Perencevich, MD, ACP Member, is an infectious disease physician and epidemiologist in Iowa City, Iowa, who studies methods to halt the spread of resistant bacteria in our hospitals (including novel ways to get everyone to wash their hands).
db's Medical Rants
Robert M. Centor, MD, FACP, contributes short essays contemplating medicine and the health care system.
Juliet K. Mavromatis, MD, FACP, provides a conversation about health topics for patients and health professionals.
Dr. Mintz' Blog
Matthew Mintz, MD, FACP, has practiced internal medicine for more than a decade and is an Associate Professor of Medicine at an academic medical center on the East Coast. His time is split between teaching medical students and residents, and caring for patients.
Toni Brayer, MD, FACP, blogs about the rapid changes in science, medicine, health and healing in the 21st century.
Vineet Arora, MD, FACP, is Associate Program Director for the Internal Medicine Residency and Assistant Dean of Scholarship & Discovery at the Pritzker School of Medicine for the University of Chicago. Her education and research focus is on resident duty hours, patient handoffs, medical professionalism, and quality of hospital care. She is also an academic hospitalist.
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Ryan Madanick, MD, ACP Member, is a gastroenterologist at the University of North Carolina School of Medicine, and the Program Director for the GI & Hepatology Fellowship Program. He specializes in diseases of the esophagus, with a strong interest in the diagnosis and treatment of patients who have difficult-to-manage esophageal problems such as refractory GERD, heartburn, and chest pain.
Mike Aref, MD, PhD, FACP, is an academic hospitalist with an interest in basic and clinical science and education, with interests in noninvasive monitoring and diagnostic testing using novel bedside imaging modalities, diagnostic reasoning, medical informatics, new medical education modalities, pre-code/code management, palliative care, patient-physician communication, quality improvement, and quantitative biomedical imaging.
William Hersh, MD, FACP, Professor and Chair, Department of Medical Informatics & Clinical Epidemiology, Oregon Health & Science University, posts his thoughts on various topics related to biomedical and health informatics.
David Katz, MD
David L. Katz, MD, MPH, FACP, is an internationally renowned authority on nutrition, weight management, and the prevention of chronic disease, and an internationally recognized leader in integrative medicine and patient-centered care.
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Kevin Pho, MD, ACP Member, offers one of the Web's definitive sites for influential health commentary.
Michael Kirsch, MD, FACP, addresses the joys and challenges of medical practice, including controversies in the doctor-patient relationship, medical ethics and measuring medical quality. When he's not writing, he's performing colonoscopies.
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Other blogs of note:
American Journal of
Also known as the Green Journal, the American Journal of Medicine publishes original clinical articles of interest to physicians in internal medicine and its subspecialities, both in academia and community-based practice.
A collaborative medical blog started by Neil Shapiro, MD, ACP Member, associate program director at New York University Medical Center's internal medicine residency program. Faculty, residents and students contribute case studies, mystery quizzes, news, commentary and more.
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The Public Library of Science's open access materials include a blog.
One of the most popular anonymous blogs written by an emergency room physician.