Fibrodysplasia ossificans
progressiva (FOP) (OMIM 135100), an autosomal dominant genetic disorder of progressive heterotopic ossification (HO), is the most disabling disorder of extraskeletal osteogenesis in humans leading to the formation of an ectopic skeleton. FOP is caused by a recurrent heterozygous missense mutation in activin receptor IA (
ACVR1), one of the seven type I TGFβ/BMP receptor family members, with most cases caused by a heterozygous gain-of-function mutation (c.617G>A; R206H) [
1]. In individuals with FOP, HO initiates as a pathophysiological process recognized as flare-ups, which feature swelling, pain, erythema, and stiffness preceding overt bone formation [
2]. One of the pioneer studies on the natural history of FOP was reported in 1993 by Cohen et al. [
3], who reported that the average age for HO to occur was 5 years and that the most common sites of early HO were the neck, spine, and shoulder girdle. Approximately 80% of the responders had some restrictive heterotopic ossification by the age of 7 years, whereas at 15 years of age, approximately 95% presented with severely restricted mobility of the upper limbs. Later, Smith et al. [
4] expanded our knowledge on the natural history of FOP, reporting that FOP patients had great toe deformities and that ossification in the large skeletal muscles began from birth to 16 years in most patients (25). Approximately 20 years later, Pignolo et al. [
5] updated our knowledge on the natural history of flare-ups in FOP-affected individuals. Currently, it has been suggested that FOP may also be associated with a prolonged and hyperactivated immune response [
6,
7]. Animal models have been instrumental not only in expanding our knowledge of the physiopathology of the disease but also in providing unique opportunities to advance treatment for FOP [
8‐
10]. Some aspects make Brazil a unique country in South America, including its vast dimensions and population size, as well as its universal health care system. In Brazil, the challenge is to develop and propose strategies that will allow us to quickly identify the affected FOP population to avoid the numerous problems associated with its late diagnosis or lack of diagnosis [
11]. In this context, as described below, we have addressed this challenge by proposing unique initiatives involving not only education, research and assistance but also by creating a task force composed of scientists and clinicians to support a bill that will make it mandatory for health care professionals to play a key role in the early diagnosis of FOP.