Rare but Perils of Unaware - Fibrodysplasia Ossificans Progressiva

Excerpt

In this issue of IJP, Gupta et al. have published a series of 12 patients with an autosomal dominant genetic disorder, fibrodysplasia ossificans progressiva (FOP) [1]. This study is unique as it reports a misdiagnosis of upto 60%, and highlights the unmet need for increasing awareness of the primary care physicians for genetic disorders. FOP was first recognized by an English surgeon in 1736, and in 1868, referred to as myositis ossificans progressiva when the great toe abnormalities were included. Harry Eastlack, born in 1933, donated his fused skeleton in Philadelphia’s Mutter Museum as a witness of the impact of trauma and multiple surgical interventions towards heterotopic bone formation in this disorder [2]. Despite the fact that FOP has been recognized for so long in literature, the authors report a diagnostic delay of upto 15.5 y, inspite of onset of disabling osseous manifestations starting as early as one to seven years of life. This is not uncommon for rare disorders which require ongoing education to decrease diagnostic odysseys of patients and families. …