Advocacy Efforts >>Comprehensive Care Centers
Comprehensive Care Centers
Have you ever had trouble locating an endocrinologist well versed in CAH? Have you needed care from other specialties, but the physicians do not communicate with each other? We are working with experts in the CAH healthcare arena to develop guidelines for CAH Comprehensive Care Centers around the country. The CAH Comprehensive Care Center is intended to be a multi-disciplinary team of healthcare professionals who are experts or developing experts in the care of CAH.
As a part of this project, CARES Foundation hosted a meeting of the world’s leading clinicians in CAH as well as individuals and families affected by this condition to derive guidelines for the establishment of, and standards for the recognition and maintenance of, comprehensive clinical care centers for the treatment of CAH throughout the life cycle September 21-22, 2009 in Bethesda, Maryland.
Relevant topics discussed during this conference included:
- comprehensive multi-disciplinary patient-centered care throughout the lifecycle
- efficiency, sensitivity, and specificity of newborn screening
- diagnosis and molecular genetics
- psycho-social-behavioral support systems and services
- surgical involvement, interventions, and outcomes for affected females
- seamless transition to adult care providers (adult and reproductive endocrinologists and surgeons)
- advocacy, education, research, and training (patients, families, health care providers, etc.)
- bone health and other potential co-morbidities
- preconception counseling
- informatics, electronic medical records, registry
This meeting was supported by funds awarded by The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services (NYMAC) and the National Newborn Screening and Genetics Resource Center (NNSGRC), with support from the Health Resources Services Administration (HRSA), US Department of Health and Human Services. The project is endorsed by the Endocrine Society, Lawson Wilkins Pediatric Endocrine Society (LWPES) and the Androgen Excess-Polycystic Ovary Syndrome Society (AE-PCOS).
Congenital Adrenal Hyperplasia (CAH) is a family of inherited, autosomal recessive disorders affecting the adrenal gland. CAH is characterized by marked heterogeneity in: etiology (more than 90% of those diagnosed with CAH are affected by 21-hydroxylase deficiency; the balance result from deficiency in any one of several enzymes in the adrenocortical pathway) and expression (classical CAH results in life-threatening imbalances in salt and hormone levels which, if undetected at birth, can lead to adrenal crisis and death; non-classical CAH, which is extremely underdiagnosed, may cause symptoms at any time from infancy through adulthood, and can involve a wide range of symptoms, including: premature development of body hair, body odor, rapid growth spurt (but ultimately short stature as an adult), early puberty, severe acne, anxiety, depression, mood swings, inability to maintain blood sugar levels, migraines and infertility).
Classical CAH occurs about once in every 10-15,000 births. Non-Classical CAH occurs much more frequently, affecting anywhere from 1 in 100 to 1 in 1000 in the general white population. (This wide range reflects the fact that the disorder is much more common in certain ethnic populations. For example, it affects 1 in 27 Ashkenazi Jews, 1 in 40 Hispanics, 1 in 53 Croatians, and 1 in 300 Italians). The frequency makes non-classical CAH the most common genetic disorder identified to date.
This marked heterogeneity renders CAH an extremely difficult disorder to understand, diagnose and treat in a comprehensive manner. As noted by a CAH working group:
…Despite over 50 years of experience with steroid replacement therapy, the management of congenital adrenal hyperplasia (CAH) remains difficult, and clinical practice varies substantially through the world…(Clayton, et al 2002)
More than 5 years later, this statement is still true, and a number of factors indicated that the time to address this disparity in care and lack of quality benchmarks is now:
- As diagnosis and clinical care improves, there is a growing population of adolescent and adult patients with CAH. However, at present there are no centers in the United States recognized as specializing in the care of teens and adults with this disorder. (Indeed, there are no established criteria upon which such a claim could currently be made). Clinicians who are less experienced with CAH, or who serve a geographically isolated population, have no recognized “expert”- be this a person or a protocol -- to turn to for advice and consultation on the diagnosis and care of their CAH patients. The result is significant disparity in the quality and comprehensiveness of care that patients receive.
- As we enter into the era where long-term follow-up on newborn screening (NBS) is an integral part of the NBS system, comprehensive care centers for lifelong care will become necessary for CAH.
- For the purpose of the NBS system, and any kind of quality assurance, we need to have guidelines upon which to evaluate the effectiveness of long-term follow-up. There also need to be some standards that cut across geographic and regional boundaries in order to compare treatment regimens and practices that lead to better health outcomes.
- One of the goals of long-term follow-up is to create opportunities for clinical and translational research – this requires a large cohort of patients being followed and monitored on a variety of parameters in a longitudinal manner. Under the current model, CAH patients are spread out both geographically and across medical specialists, with no published guidelines for how – or even that—there be a primary clinician overseeing the disparate therapies. Subspecialists need a roadmap for how to communicate with each other in the care of a CAH patient, and there needs to be a master plan as to how individuals should be treated and monitored throughout the life cycle.
The goal of CARES Foundation’s Comprehensive Care Centers project is to derive guidelines for the establishment of, and standards for the recognition and maintenance of, comprehensive clinical care centers for the treatment of CAH throughout the life cycle.