The influence of regional health care structures on delay in diagnosis of rare diseases: the case of Marfan Syndrome

Health Policy. 2012 May;105(2-3):119-27. doi: 10.1016/j.healthpol.2012.02.003. Epub 2012 Mar 14.


Introduction: This study investigates the relative influence of the regional availability of health care resources (measured by physician densities, number of health care centers) on health care quality (measured by delay in diagnosis), based on data for the rare disease Marfan Syndrome.

Methods: Administrative data from 389 patients with Marfan Syndrome were analyzed. Logistic regression models were applied for a dichotomous comparison of the dependent variable 'time to diagnosis' with the classifications 'immediate' and 'late' diagnosis. Physician densities of cardiologists/angiologists, ophthalmologists, orthopedists, and GPs, as well as distance to medical health care centers and sociodemographic information were entered into the models.

Results: The results showed that the relationship between physician densities and probability of immediate diagnosis of Marfan Syndrome is negative linear, and quadratic for cardiologists/angiologists. This effect was significant with respect to density of cardiologists/angiologists (p=0.0097). Distance to medical health care centers was not a predictor of an immediate diagnosis.

Conclusion: Marfan Syndrome faces significant problems of quality of health care, as although the requisite quantity of health care resources is available, this does not affect delay in diagnosis. Information technology might foster valuable networking among physicians treating such cases along with holistic assessment of symptoms as they occur.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Delayed Diagnosis / statistics & numerical data*
  • Delivery of Health Care / organization & administration
  • Delivery of Health Care / statistics & numerical data
  • Female
  • Germany / epidemiology
  • Health Facilities / supply & distribution
  • Humans
  • Logistic Models
  • Male
  • Marfan Syndrome / diagnosis*
  • Marfan Syndrome / therapy
  • Physicians / supply & distribution*
  • Quality of Health Care / statistics & numerical data*
  • Rare Diseases / diagnosis
  • Rare Diseases / therapy
  • Time Factors
  • Young Adult