ESPE Abstracts (2021) 94 P1-121

ESPE2021 ePoster Category 1 Growth A (10 abstracts)

Higher rates of non-skeletal complications in achondroplasia compared to the general population: a UK matched cohort study using the CPRD database

Jeanne M. Pimenta 1 , Moira Cheung 2 , Melita Irving 2 , Louise Mazzeo 1 , Sarah Landis 1 & Swati Mukherjee 1

1BioMarin Europe Ltd, London, United Kingdom; 2Guy’s and St. Thomas’ NHS Foundation Trust, Evelina Children’s Hospital, London, United Kingdom

Objectives: Achondroplasia (ACH) is a rare, genetic skeletal dysplasia, resulting in impaired endochondral bone growth and leading to multisystem complications. We aimed to estimate rates of non-skeletal complications in ACH patients compared with general population controls.

Methods: Retrospective cohort study using UK Clinical-Practice-Research-Datalink (CPRD-GOLD), identifying an ACH cohort. Study index date was defined as ACH first record between 01/01/1987-31/12/2018. ACH cases were index date matched (1: 4) by age, sex, general practitioner (practice-level) and linkage ability to Hospital Episode Statistics database with control patients, defined as those without evidence of skeletal/growth disorders. Read codes defined complications of interest based on ACH literature; we calculated event rates per 100 person-year and rate ratios [RR] (95% confidence intervals, CI) to compare cohorts.

Results: We identified 541 ACH cases and 2,052 matched controls: 51% female, mean age 29 years (y), range 0-94y at index date. Mean follow-up time was 14.5y for ACH cases and 19.1y for controls. The rate of complications across a range of body systems was significantly higher among ACH patients than matched controls (range RR=1.18 for cardiovascular conditions to RR=8.81 for developmental conditions) [see Table]. Complications differed by ages when compared to controls; e.g. rates of developmental issues, ENT (otitis media/tonsils) and apnoea were higher in children, cardiovascular conditions, depression and seizures in adults, and musculoskeletal pain and hearing loss significantly affected both.

Specific complication*
Body system RR (95% CIs) Statistically significantly higher RR in ACH compared to controls No difference in RR between ACH cases and controls
Cardiovascular 1.18 (1.08-1.30) • Chest pain/angina
• Hypertension
• Coronary disease
• Myocardial infarction
• Stroke
Developmental 8.81 (5.29-14.68) • Developmental delay
• Speech delay
ENT 3.03 (2.71-3.38) • Enlarged tonsils
• Hearing loss/deafness
• Otitis media
• Voice abnormality
• Sinusitis
Mental Health 1.58 (1.40-1.77) • ADD/ADHD/adjustment disorder
• Depression/anxiety
• Self-harm/suicidal ideation
• Substance abuse
Metabolic 1.29 (1.10-1.50) • Obesity • Diabetes
• Hyperlipidaemia
Neurological 7.72 (5.38-11.10) • Seizures
• Hydrocephalus/ventriculomegaly
• Dementia
Other 1.76 (1.65-1.87) • Gastrointestinal issues
• Headache
• Pain-musculoskeletal
• Sexual health/gynaecological issues
Respiratory 4.16 (2.99-5.81) • Apnoea/sleep disordered breathing • Sleep disorder
*Specific conditions with <5 events are not shown in Table but contributed to body system total: motor delay (Developmental); middle ear dysfunction and tracheomalacia/bronchomalacia (ENT); ‘other’ mental health (Mental Health); craniocervical stenosis, failure to thrive, subdural haematoma (Neurological)

Conclusion: This study illustrates that ACH patients have significant non-skeletal multisystemic complications when compared to an appropriate matched general population cohort which are seen throughout the lifespan.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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