ESPE2024 Poster Category 1 Growth and Syndromes 3 (10 abstracts)
Health and life risks in children with achondroplasia – multicenter study.
Wiktoria Wrobel 1 , Artur Bossowski 2 , Monika Cichon-Kotek 3 , Michal Erazmus 4 , Aneta Gawlik-Starzyk 5 , Malgorzata Mysliwiec 6 , Elzbieta Petriczko 7 , Agnieszka Pietrusik 5 , Beata Pyrzak 4 , Renata Stawerska 8,9 , Robert Smigiel 10 , Mieczyslaw Walczak 7 , Malgorzata Wojcik 11 , Agnieszka Zachurzok 12 & Iwona Ben-Skowronek 1
1Department of Pediatric Endocrinology and Diabetology with the Endocrinology and Metabolic Laboratory, Medical University of Lublin, Lublin, Poland. 2Department of Paediatrics, Endocrinology, Diabetology with Cardiology Division, Medical University of Bialystok, Bialystok, Poland. 3Department of Pediatrics, Hematology and Oncology, Medical University of Gdansk, Gdansk, Poland. 4Department of Paediatrics and Endocrinology, Medical University of Warsaw, Warsaw, Poland. 5Department of Paediatrics and Paediatric Endocrinology with Division of Sex Development Disorders, Upper Silesia Children's Health Centre, Medical University of Silesia, Katowice, Poland. 6Department of Pediatric Diabetology and Endocrinology, Medical University of Gdansk, Gdansk, Poland. 7Department of Paediatrics, Endocrinology, Diabetology, Metabolic Disorders and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland. 8Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital-Research Institute in Lodz, Lodz, Poland. 9Department of Pediatric Endocrinology, Medical University of Lodz, Lodz, Poland. 10Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wroclaw, Wroclaw, Poland. 11Department of Pediatric and Adolescent Endocrinology, Chair of Pediatrics, Pediatric Institute, Jagiellonian University Medical College Krakow, Krakow, Poland. 12Department of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Katowice, Poland
Background: Achondroplasia is a genetic disorder that belongs to a large group of skeletal dysplasias that is caused by a missense mutation in the gene encoding FGFR-3 resulting in its constitutive upregulating. This interferes with the receptor's tyrosine kinase domain causing inhibition of cartilage tissue cells and the formation of abnormalities in the bone growth plate leading to defective skeletal development and a disproportionately short stature with macrocephaly.
Methods: The medical data such as anthropometric measurements and results of laboratory analyses (including genetic ones) and imaging tests, e.g. MRI and CT scans on the population of 72 children suffering from achondroplasia from the 9 reference paediatric endocrinology centers of Poland were collected in order to visualise the scale of the problem.
Results: The most characteristic changes include short stature, rhizomelia just as lumbar hyperlordosis, kyphosis of the thoracolumbar junction and spinal stenosis (L1-L4 segments) were observed in 100% of genetically confirmed cases of achondroplasia. Neurological problems are associated with stenosis of the great aperture leading to hydrocephalus and spinal canal stenosis, resulting in nerve compression, cervical myelopathy, brainstem compression causing breathing difficulties (which increases the risk of sudden death) and central sleep apnoea.
| Foramen magnum stenosis | Hydrocephalus | Spinal stenosis | |
| Confirmed by MRI/CT | 30,6% | 8,3% | 11,1% |
| Not confirmed by MRI/CT | 43% | 69,5% | 48,6% |
| Not completely verified | 26,4% | 22,2% | 40,3% |
Patients with achondroplasia have a predisposition to obesity, which can lead to cardiovascular disease. The thorax in achondroplasia is small in size, which reduces tidal volume, and the small size of the upper airway can cause obstructive sleep apnoea. Impaired middle ear function is a common problem, probably due to abnormal development of the Eustachian tube, resulting in hearing loss.
| obstructive sleep apnoea | respiratory infections requiring hospitalisation | non-invasive ventilation | recurrent middle ear infections | condition after adenotomy/ tonsillectomy | myringotomy | |
| Number of patient | 11 | 17 | 3 | 21 | 17 | 8 |
| Percentage of patient | 15,3% | 23,6% | 4,2% | 29,2% | 23,6% | 11,1% |
Conclusions: Based on the information gathered, it can be concluded that many children are underdiagnosed. In summary, careful observation, diagnosis and causal treatment of achondroplasia according to existing guidelines is necessary and urgent, as untreated achondroplasia causes many of the above complications, which ultimately lead to disability and require highly specialised treatment involving multiple specialties. These children should be treated with vosoritide as this will improve their development and reduce complications.
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