ACONDROPLASIA, caused by a mutation in a gene essential for normal skeletal growth, is the most common form of human growth restriction and an estimated 360,000 people worldwide have it. In four out of five cases when a child is born with achondroplasia, there is no family history of the disease, because the genetic variant arises from germline changes involved in the formation of parental sperm or eggs. Otherwise, it is inherited from an affected parent as a dominant trait.
Achondroplasia can be easily diagnosed at birth with a short stature with short limbs, a characteristic radiographic appearance of the pelvis and spine, and confirmed by genetic testing of the fibroblast growth factor receptor 3 (FGFR3) embarrassed.
People with achondroplasia can experience a variety of medical complications, psychosocial challenges, and functional limitations resulting from an environment that is not designed to recognize or support their lifelong needs. These include craniocervical junction compression, obstructive sleep apneadifficulties accessing their environment due to disproportionate small size and issues of discrimination and pain.
To date, there has been no consensus regarding the optimal management of people with achondroplasia worldwide. This has led to the use of several diagnostic, monitoring and management practices in different regions with varying results. No evidence-based “standard of care” has been established to optimize outcomes and provide a baseline against which new treatments can be judged.
This unmet need provided the impetus for the formation of the International Achondroplasia Consensus Group, to develop consensus guidelines for the diagnosis and management of people with achondroplasia throughout their lives and in 15 medical specialties. This group of 55 participants included healthcare professionals and patient advocates from 16 countries and five continents, who came together in Oslo at the end of 2019 to develop this consensus statement. They used a modified Delphi process to develop these statements, based on evidence when it was available and combined experience of dealing with this condition when it was not available. This was followed by two rounds of voting, with the final 136 consensus statements being those that received 80% or more agreement.
These statements include guidelines for the management of achondroplasia in pregnancy, infancy, childhood, adolescence, and adulthood and subspecialty management, paramedical management, and family-centered support and care.
The consensus statement was recently published in the journal Journals Nature Endocrinology and has been translated into 14 languages to facilitate its dissemination to the widest possible audience. It is hoped that it will provide a valuable resource for clinicians, patients and families, as well as a platform for further research.
Recently, several new drug therapies for the treatment of children with achondroplasia have emergedand it will be important to see how the natural history and management of people with achondroplasia will evolve and change as these treatments become established in clinical care.
For general practitioners likely to see people with achondroplasia, it is important that they are able to recognize the medical and other needs of these patients, that they are able to engage in preliminary genetic counseling regarding risks of transmission of the disease to children and to refer to specialized skeletal centers for continuous multidisciplinary care.
We hope that this new consensus statement will facilitate these goals.
Professor Ravi Savarirayan is a clinical geneticist at Victorian Clinical Genetics Services and Group Leader of Skeletal Therapies at the Murdoch Children’s Research Institute.
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