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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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.
Ira S. Nash, MD, FACP, is the senior vice president and executive director of the North Shore-LIJ Medical Group, and a professor of Cardiology and Population Health at Hofstra North Shore-LIJ School of Medicine. He is Board Certified in Internal Medicine and Cardiovascular Diseases and was in the private practice of cardiology before joining the full-time faculty of Massachusetts General Hospital.
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.
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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 Iowa City, IA, 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.
Suneel Dhand, MD, ACP Member
Suneel Dhand, MD, ACP Member, is a practicing physician in Massachusetts. He has published numerous articles in clinical medicine, covering a wide range of specialty areas including; pulmonology, cardiology, endocrinology, hematology, and infectious disease. He has also authored chapters in the prestigious "5-Minute Clinical Consult" medical textbook. His other clinical interests include quality improvement, hospital safety, hospital utilization, and the use of technology in health care.
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.
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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.
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