Botman Esmée, Smilde Bernard J, Hoebink Max, Treurniet Sanne, Raijmakers Pieter, Kamp Otto, Teunissen Bernd P, Bökenkamp Arend, Jak Patrick, Lammertsma Adriaan A, van den Aardweg Joost G, Boonstra Anco, Eekhoff Elisabeth M W
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Internal Medicine section Endocrinology, Amsterdam Movement Sciences, Amsterdam Bone Centre, de Boelelaan 1117, Amsterdam, the Netherlands.
Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Radiology and Nuclear Medicine, de Boelelaan 1117, Amsterdam, the Netherlands.
Bone Rep. 2021 Feb 25;14:100758. doi: 10.1016/j.bonr.2021.100758. eCollection 2021 Jun.
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.
进行性骨化性纤维发育不良（FOP）是一种遗传性疾病，其特征是结缔组织中形成异位骨化（HO）。HO首先在胸部区域发展，然后才影响更多外周部位。由于胸廓周围存在HO，其活动受到限制，肺功能恶化。由于HO的发展是渐进性的，肺功能可能会随着时间的推移而恶化，但FOP患者肺功能的纵向数据缺失。对7例FOP患者的纵向肺功能测试（PFT）进行回顾性评估，以评估衰老过程中肺功能是否发生变化。纳入了用力肺活量（FVC）、一秒用力呼气容积（FEV1）、肺总量（TLC）、残气量（RV）以及二氧化碳弥散量除以肺泡容积（DLCO/VA）。此外，通过全身低剂量CT扫描确定的胸部HO体积及其进展与PFT数据相关。每位患者在首次PFT时年龄为7至57岁，在6至18年的时间里可获得3至9次PFT。除1例患者外，所有患者均发现有以TLC确定或由FVC怀疑的限制性肺功能。在3例患者中，随访期间TLC、FVC或两者进一步下降。除1例患者外，所有患者的RV均增加。所有FOP患者的DLCO/VA比值均正常。有趣的是，在进行解锁下颌的手术干预后，FEV1增加。5例患者中有4例胸部区域的总HO体积在成年早期后仍有进展，但未观察到FVC进一步下降。总之，大多数患者在早年就已发现限制性肺功能。我们的数据表明，肺功能的恶化与年龄有关。
