Description

This review evaluated over 70 publications identifying important comorbidity patterns by age.

In infants, a high prevalence (>20 %) was found for kyphosis, a range of neurological manifestations and sleep apnea. There was also an excess mortality in infancy (4–7.8/100 person-years). Genu varum was highly prevalent from the age children started to walk (9–75%). Other conditions emerged later; those with a high prevalence (>20 %) were hearing loss and pain. In adolescence, neurological manifestations in the arm, neck or leg were reported (~15 %), consistent with symptomatic spinal stenosis or spinal compression.

Limited data suggest that pain and cardiovascular conditions, particularly excess weight and obesity, became more prevalent into adulthood. Mortality rates increased again in older age-groups.

As new treatment options become available it is important to understand comorbidity background rates to be able to evaluate potential treatment effects. This literature review aimed to quantify prevalence estimates of comorbidities by age, and to compile a reference that could assist in assessing the risk–benefit of new treatment options.

The findings allow future contextualisation of novel treatment options, and support clinical decision-making around timely medical management and interventions for achondroplasia. Further studies into the natural history of this rare disease using more consistent definitions of comorbidities, especially into adulthood, are needed to elucidate the multi-systemic nature of this condition.

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