2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Quantification of the Surgical Burden Associated with Achondroplasia: a Comprehensive Review of the Literature

Pdf Summary

This document is a review of the literature on the surgical burden associated with achondroplasia, a genetic condition that causes disproportionate short stature and various comorbidities. The review aims to quantify the prevalence of ACH-related surgeries in different age groups to serve as a reference point for future treatment evaluation.<br /><br />The review was conducted based on PRISMA principles and included English-language articles published from 1990 onwards. Surgical interventions were categorized by body system, such as ENT, neurological, spinal, and limb surgeries. Clinical trials, case studies, and studies evaluating surgical outcomes were excluded.<br /><br />The results showed a high surgical burden associated with achondroplasia. Up to 80% of individuals with ACH reported having at least one surgery. The most common surgeries in infants were ENT surgery and decompression surgery of the brain and upper spine. In childhood, ENT surgery was most prevalent, followed by decompression surgery of the brain and upper spine, as well as lower spine surgery. In adolescence, ENT surgery and orthopedic limb surgery were highly prevalent. In adulthood, spinal surgery was seen in a fifth of individuals.<br /><br />The review also highlighted the heterogeneity in study design, clinical settings, and population definitions, leading to wide variability in prevalence estimates. Age at surgery and comorbidity warranting the surgery were inconsistently reported. The focus of the literature was primarily on pediatric care, with more studies on neurosurgery and ENT surgery compared to spinal and limb surgery.<br /><br />In conclusion, achondroplasia carries a high surgical burden throughout life, requiring timely multidisciplinary care. This review provides a comprehensive quantification of the prevalence of ACH-related surgeries by age group, serving as a reference for future treatment evaluation.

Asset Subtitle

Submitter Only - Barbara Utterback, MS, MBA; Co-Author - Monika Stender, PhD; Presenting Author - Jeanne Pimenta, PhD; Co-Author - Melita Irving, MD; Co-Author - Swati Mukherjee;

Meta Tag

Bone/Joint Abnormalities

Clinical History

Musculoskeletal system

Co-Author Monika Stender, PhD

Co-Author Melita Irving, MD

Co-Author Swati Mukherjee

Presenting Author Jeanne Pimenta, PhD

Submitter Only Barbara Utterback, MS, MBA

Keywords

achondroplasia

surgical burden

genetic condition

prevalence

ACH-related surgeries

ENT surgery

neurological surgery

spinal surgery

limb surgery

pediatric care