Deterioration of pulmonary function: An early complication in Fibrodysplasia Ossificans Progressiva
Esmée Botman,
Bernard J. Smilde,
Max Hoebink,
Sanne Treurniet,
Pieter Raijmakers,
Otto Kamp,
Bernd P. Teunissen,
Arend Bökenkamp,
Patrick Jak,
Adriaan A. Lammertsma,
Joost G. van den Aardweg,
Anco Boonstra,
Elisabeth M.W. Eekhoff
Affiliations
Esmée Botman
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Internal Medicine section Endocrinology, Amsterdam Movement Sciences, Amsterdam Bone Centre, de Boelelaan 1117, Amsterdam, the Netherlands
Bernard J. Smilde
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Internal Medicine section Endocrinology, Amsterdam Movement Sciences, Amsterdam Bone Centre, de Boelelaan 1117, Amsterdam, the Netherlands
Max Hoebink
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Internal Medicine section Endocrinology, Amsterdam Movement Sciences, Amsterdam Bone Centre, de Boelelaan 1117, Amsterdam, the Netherlands
Sanne Treurniet
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Internal Medicine section Endocrinology, Amsterdam Movement Sciences, Amsterdam Bone Centre, de Boelelaan 1117, Amsterdam, the Netherlands
Pieter Raijmakers
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Radiology and Nuclear Medicine, de Boelelaan 1117, Amsterdam, the Netherlands
Otto Kamp
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Cardiology, de Boelelaan 1117, Amsterdam, the Netherlands
Bernd P. Teunissen
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Radiology and Nuclear Medicine, de Boelelaan 1117, Amsterdam, the Netherlands
Arend Bökenkamp
Amsterdam UMC, Emma Children's Hospital, Vrije Universiteit Amsterdam, Department of Pediatric Nephrology, de Boelelaan 1117, Amsterdam, the Netherlands
Patrick Jak
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Pulmonology, de Boelelaan 1117, Amsterdam, the Netherlands
Adriaan A. Lammertsma
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Radiology and Nuclear Medicine, de Boelelaan 1117, Amsterdam, the Netherlands
Joost G. van den Aardweg
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Pulmonology, de Boelelaan 1117, Amsterdam, the Netherlands
Anco Boonstra
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Pulmonology, de Boelelaan 1117, Amsterdam, the Netherlands
Elisabeth M.W. Eekhoff
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Internal Medicine section Endocrinology, Amsterdam Movement Sciences, Amsterdam Bone Centre, de Boelelaan 1117, Amsterdam, the Netherlands; Corresponding author at: Boelelaan 1117 (ZH4A35), 1081HV Amsterdam, the Netherlands.
Fibrodysplasia Ossificans Progressiva (FOP) is a genetic disease characterized by the formation of heterotopic ossification (HO) in connective tissues. HO first develops in the thoracic region, before more peripheral sites are affected. Due to HO along the thoracic cage, its movements are restricted and pulmonary function deteriorates. Because development of HO is progressive, it is likely that pulmonary function deteriorates over time, but longitudinal data on pulmonary function in FOP are missing.Longitudinal pulmonary function tests (PFTs) from seven FOP patients were evaluated retrospectively to assess whether there were changes in pulmonary function during aging. Forced vital capacity (FVC), forced expiratory volume in one second (FEV1), total lung capacity (TLC), residual volume (RV) and diffusing lung capacity for carbon dioxide divided by alveolar volume (DLCO/VA) were included. In addition, HO volume along the thorax together with its progression as identified by whole body low dose CT scans were correlated to PFT data.Per patient, aged 7–57 years at the time of the first PFT, three to nine PFTs were available over a period of 6–18 years. Restrictive pulmonary function, identified by TLC or suspected by FVC, was found in all, but one, patients. In three patients, TLC, FVC or both decreased further during the follow-up period. All, but one, patients had an increased RV. The DLCO/VA ratio was normal in all FOP patients. Interestingly, FEV1 increased after a surgical intervention to unlock the jaw. In four out of five patients total HO volume in the thoracic region progressed beyond early adulthood, but no further decline in FVC was observed.In conclusion, restrictive pulmonary function was found in the majority of patients already at an early age. Our data suggest that the deterioration in pulmonary function is age dependent.
