Fibrodysplasia ossificans progressiva in Hong Kong—A case report series

Abstract

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare condition. The diagnosis could be challenging due to its rarity and non-specific presenting symptoms. However, early diagnosis and appropriate management help in preserving patients' function and quality of life. Herein, we report the diagnostic journeys and clinical courses of 8 patients with FOP in Hong Kong and illustrate the challenges involved.

Fibrodysplasia ossificans progressiva: Two case reports

“…Although FOP is rare, the clinical manifestations are distinct and unambiguous, which can aid in its early diagnosis [ 7 , 10 , 11 ]. However, the variability in its clinical presentation, as highlighted by the case series from Hong Kong, emphasizes the importance of comprehensive clinical examination, detailed patient history, and a high index of suspicion [9] .…”

“…The case report adds to the existing body of evidence that highlights the need for continued research into FOP to better understand its pathophysiology, improve diagnostic accuracy, and explore effective therapeutic interventions. The need for such research is especially urgent given the devastating impact of FOP on patients' quality of life [ 8 , 9 ].…”

“…Through early diagnosis and proactive medical care, the debilitating impact of FOP can be significantly mitigated. Continued research is essential to devise effective therapeutic interventions, improving patient outcomes, and quality of life [ 8 , 9 , 13 ].…”

“…The unique combination of extraskeletal new bone formation and great toe abnormalities were critical in arriving at this diagnosis. The cases showcase the importance of thorough patient examination and the utility of the hallux valgus deformity as an early clinical indicator of FOP [ 7 , 9 , 10 ]. The diagnostic journey of these patients demonstrates that, despite the rarity of FOP, its distinctive clinical features can lead clinicians to a correct diagnosis and highlight the necessity of avoiding potentially harmful diagnostic procedures [ 11 , 12 ].…”

“…An international, natural history study has helped shed light on the debilitating effects and progressive nature of FOP, with the greatest progression noted during childhood and early adulthood [8] . Despite this, the rarity of FOP and its diverse clinical manifestations, as illustrated by a case series reported by Chan et al in Hong Kong, can result in delayed or incorrect diagnoses [9] .…”