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Recommendations for the healthcare of patients with FOP
Orthopadie (Heidelb). 2023 Aug 21. doi: 10.1007/s00132-023-04425-y. Online ahead of print.ABSTRACTBACKGROUND: Fibrodysplasia ossificans progressiva (FOP) is a very rare, severe genetic disorder triggered by a gain-of-function mutation in the ACVR1 gene that codes for the type I bone morphogenetic protein (BMP) receptor ACVR1 (activin A receptor-type 1), also known as ALK2 (activin receptor-like kinase-2). It leads to the onset and progression of heterotopic ossification (HO) in soft and connective tissue. HO is often preceded by episodes of soft tissue swelling or flare-ups. Flare-ups, characteristic of FOP, may be induced...
Source: Nuklearmedizin - August 21, 2023 Category: Radiology Authors: L Seefried D Banholzer R Fischer I Grafe I H üning R Morhart R Oheim O Semler H Siggelkow C Stockklausner H Hoyer-Kuhn Source Type: research

The terminal period findings of late-diagnosed fibrodysplasia ossificans progressiva
Ger Med Sci. 2023 Jul 11;21:Doc12. doi: 10.3205/000326. eCollection 2023.ABSTRACTFibrodysplasia ossificans progressiva (FOP) is an autosomal dominant rare disease characterized by foot deformities and concomitant heterotopic ossifications. Theoretically, in the absence of early diagnosis and medication, the patient's outcome will be poor. The patients are usually diagnosed at an early age. Hence, encountering a non-treated and terminal-period patient is rare. Our case was unique because it showed the clinical picture and atypical radiological distribution of a 20-year-old, terminally ill untreated female patient. She had h...
Source: GMS German Medical Science - August 21, 2023 Category: General Medicine Authors: Emrah Do ğan H üseyin Aydoğmuş Cenk Elibol Sinem Aydo ğmuş Source Type: research