Achondroplasia: new consensus statement on management

ACONDROPLASIA, caused by a mutation in a gene critical for normal skeletal growth, is the most common form of restricted human growth and an estimated 360,000 people worldwide suffer from this disease. In four out of five cases in which a child is born with achondroplasia, there is no family history of the disease, as the genetic variant has arisen from changes in the germ line involved in the formation of sperm or parental eggs. In other cases, it is inherited from an affected parent as the dominant trait.

Achondroplasia can be easily diagnosed from birth with a short height of short limbs, a characteristic radiographic appearance of the pelvis and spine, and is confirmed by genetic testing of the fibroblast growth factor receptor 3 gene (FGFR3).

People with achondroplasia may experience a variety of medical complications, psychosocial challenges, and functional limitations as a result of an environment that is not geared toward recognizing or supporting their needs throughout their lives. These include cranial-cervical compression, obstructive sleep apnea, problems with access to their environment due to disproportionate short stature, and problems with discrimination and pain.

To date, there has been no consensus on the optimal management of people with achondroplasia worldwide. This has led to the use of various diagnostic, surveillance and management practices in different regions with varied results. No evidence-based “standards of care” have been established to optimize outcomes and provide a baseline by which new treatments can be judged.

This unmet need gave impetus to the formation of the International Consensus Group on Achondroplasia, which was responsible for developing consensus guidelines for the diagnosis and management of people with achondroplasia throughout their lives and in 15 specialties. medical. This group of 55 participants included health professionals and patient advocates from 16 countries and five continents, who met in Oslo in late 2019 to develop this consensus statement. They used a modified Delphi process to develop these statements, based on evidence when available and combined experience of managing this condition when not. Two rounds of voting followed, with 136 final consensus statements receiving 80% or more agreement.

These statements include guidelines for managing achondroplasia in pregnancy, childhood, infancy, adolescence and adulthood, and subspecialty management, allied health management, and focused support and care. in the family.

The consensus statement was recently published in the journal Nature Reviews Endocrinology and has been translated into 14 languages ​​to facilitate its dissemination to the widest possible audience. It is expected to provide a valuable resource for physicians, patients, and families, as well as provide a platform for further research.

Recently, several new pharmacological therapies have emerged for the treatment of children with achondroplasia, and 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 GPs who may see people with achondroplasia, it is important that they be able to recognize the medical and other needs of these patients, who may be involved in preliminary genetic counseling on the risks of the disease being transmitted to children and that refer to specialized centers of the skeleton for the multidisciplinary continuous management.

This new consensus statement is expected to facilitate these goals.

Professor Ravi Savarirayan is a clinical geneticist at Victorian Clinical Genetics Services and a group leader in skeletal therapy at the Murdoch Children’s Research Institute.

The statements or opinions expressed in this article reflect the views of the authors and do not necessarily represent the official policy of the AMA, MJA or InSight + unless otherwise stated.

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