Early Detection for Better Patient Outcome: A Case Report on Two Patients Presenting With Fibrodysplasia Ossificans Progressiva at Tikur Anbessa Specialized Hospital, Ethiopia
Corresponding Author
Alazar M. Haile
Tikur Anbessa Specialized Hospital , Department of Orthopaedics , College of Health Sciences , Addis Ababa University , Addis Ababa , Ethiopia , aau.edu.et
Search for more papers by this authorAbrham W. Azale
Tikur Anbessa Specialized Hospital , Department of Orthopaedics , College of Health Sciences , Addis Ababa University , Addis Ababa , Ethiopia , aau.edu.et
Search for more papers by this authorBirhanu Ayana
Tikur Anbessa Specialized Hospital , Department of Orthopaedics , College of Health Sciences , Addis Ababa University , Addis Ababa , Ethiopia , aau.edu.et
Search for more papers by this authorCorresponding Author
Alazar M. Haile
Tikur Anbessa Specialized Hospital , Department of Orthopaedics , College of Health Sciences , Addis Ababa University , Addis Ababa , Ethiopia , aau.edu.et
Search for more papers by this authorAbrham W. Azale
Tikur Anbessa Specialized Hospital , Department of Orthopaedics , College of Health Sciences , Addis Ababa University , Addis Ababa , Ethiopia , aau.edu.et
Search for more papers by this authorBirhanu Ayana
Tikur Anbessa Specialized Hospital , Department of Orthopaedics , College of Health Sciences , Addis Ababa University , Addis Ababa , Ethiopia , aau.edu.et
Search for more papers by this authorAbstract
Fibrodysplasia ossificans progressiva is an ultrarare disorder of endochondral ossification. It is unfamiliar to most care providers in low-income countries such as Ethiopia. Even though the clinical presentation is typical, most cases remain misdiagnosed in our region. Moreover, we hypothesize that many such cases undergo unnecessary or harmful interventions for a painless lump. In Ethiopia, with a population of approximately 120 million, only one case has been reported in the literature so far. We present two cases that were referred to our institution for a biopsy of a mass. This report is aimed at summarizing the typical presentation of the disease and at highlighting the harmful interventions one should avoid in such patients. We also hope that this report serves as an entry point to try to find more patients with this similar condition early in their clinical course. Furthermore, we believe that in order to lessen the overall impact of the illness, it is crucial to provide caregivers with health education about the causes of disease flare-ups.
Conflicts of Interest
The authors declare no conflicts of interest.
References
- 1 Pignolo R. J., Baujat G., Brown M. A., De Cunto C., Di Rocco M., Hsiao E. C., Keen R., Al Mukaddam M., Sang K. L. Q., Wilson A., White B., Grogan D. R., and Kaplan F. S., Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes, Orphanet Journal of Rare Diseases. (2019) 14, no. 1, https://doi.org/10.1186/s13023-019-1068-7, 2-s2.0-85065242058, 31053156.
- 2 Shah Z. A., Rausch S., Arif U., and El Yafawi B., Fibrodysplasia ossificans progressiva (stone man syndrome): a case report, Journal of Medical Case Reports. (2019) 13, no. 1, https://doi.org/10.1186/s13256-019-2297-z, 31785620.
- 3 Kaplan F. S., Le Merrer M., Glaser D. L., Pignolo R. J., Goldsby R. E., Kitterman J. A., Groppe J., and Shore E. M., Fibrodysplasia ossificans progressiva, Best practice & Research Clinical Rheumatology. (2008) 22, no. 1, 191–205, https://doi.org/10.1016/j.berh.2007.11.007, 2-s2.0-40149099148, 18328989.
- 4 Pignolo R. J., Cheung K., Kile S., Fitzpatrick M. A., De Cunto C., Al Mukaddam M., Hsiao E. C., Baujat G., Delai P., Eekhoff E. M. W., Di Rocco M., Grunwald Z., Haga N., Keen R., Levi B., Morhart R., Scott C., Sherman A., Zhang K., and Kaplan F. S., Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global Registry, Bone. (2020) 134, 115274, https://doi.org/10.1016/j.bone.2020.115274, 32062004.
- 5 Tin Soldiers Global, FOP patient search, https://www.tinsoldiers.org.
- 6 Solomon D., Wakjira I., Hailu D., and Gorfy Y., Fibroplasia ossificans progressiva: a case report of a rare disease entity, Ethiopian Journal of Health Sciences. (2018) 28, no. 4, 513–516, https://doi.org/10.4314/ejhs.v28i4.17, 2-s2.0-85059499874, 30607064.
- 7 Pignolo R. J., Bedford-Gay C., Cali A., Davis M., Delai P. L. R., Gonzales K., Hixson C., Kent A., Newport H., Robert M., Scott C., and Kaplan F. S., Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective, Orphanet Journal of Rare Diseases. (2022) 17, no. 1, https://doi.org/10.1186/s13023-022-02224-w, 35436894.
- 8 Shaikh U., Khan A., Kumari P., Ishfaq A., Ekhator C., Yousuf P., Halappa Nagaraj R., Raza H., Ur Rehman U., Zaman M. U., Lakshmipriya Vetrivendan G., Nguyen N., Kadel B., Sherpa T. N., Ullah A., and Bellegarde S. B., Novel therapeutic targets for fibrodysplasia ossificans progressiva: emerging strategies and future directions, Cureus. (2023) 15, no. 7, e42614, https://doi.org/10.7759/cureus.42614, 37521595.
- 9 Agha R. A., Franchi T., Sohrabi C., Mathew G., Kerwan A., Thoma A., Beamish A. J., Noureldin A., Rao A., Vasudevan B., Challacombe B., Perakath B., Kirshtein B., Ekser B., Pramesh C. S., Laskin D. M., Machado-Aranda D., Miguel D., Pagano D., Millham F. H., Roy G., Kadioglu H., Nixon I. J., Mukherjee I., McCaul J. A., Chi-Yong Ngu J., Albrecht J., Rivas J. G., Raveendran K., Derbyshire L., Ather M. H., Thorat M. A., Valmasoni M., Bashashati M., Chalkoo M., Teo N. Z., Raison N., Muensterer O. J., Bradley P. J., Goel P., Pai P. S., Afifi R. Y., Rosin R. D., Coppola R., Klappenbach R., Wynn R., de Wilde R. L., Surani S., Giordano S., Massarut S., Raja S. G., Basu S., Enam S. A., Manning T. G., Cross T., Karanth V. K. L., Kasivisvanathan V., and Mei Z., The SCARE 2020 guideline: updating consensus Surgical CAse REport (SCARE) guidelines, International Journal of Surgery. (2020) 84, 226–230, https://doi.org/10.1016/j.ijsu.2020.10.034.
- 10 Qi Z., Luan J., Zhou X., Cui Y., and Han J., Fibrodysplasia ossificans progressiva: basic understanding and experimental models, Intractable & Rare Diseases Research. (2017) 6, no. 4, 242–248, https://doi.org/10.5582/irdr.2017.01055, 2-s2.0-85037079992, 29259851.
- 11 Kaplan F. S., Xu M., Glaser D. L., Collins F., Connor M., Kitterman J., Sillence D., Zackai E., Ravitsky V., Zasloff M., Ganguly A., and Shore E. M., Early diagnosis of fibrodysplasia ossificans progressiva, Pediatrics. (2008) 121, no. 5, e1295–e1300, https://doi.org/10.1542/peds.2007-1980, 2-s2.0-44449166223, 18450872.
- 12 Mantick N., Bachman E., Baujat G., Brown M., Collins O., De Cunto C., Delai P., Eekhoff M., Zum Felde R., Grogan D. R., Haga N., Hsiao E., Kantanie S., Kaplan F., Keen R., Milosevic J., Morhart R., Pignolo R., Qian X., di Rocco M., Scott C., Sherman A., Wallace M., Williams N., Zhang K., and Bogard B., The FOP connection registry: design of an international patient-sponsored registry for fibrodysplasia ossificans progressiva, Bone. (2018) 109, 285–290, https://doi.org/10.1016/j.bone.2017.08.032, 2-s2.0-85030321418, 28866367.
- 13 Mahboubi S., Glaser D. L., Shore E. M., and Kaplan F. S., Fibrodysplasia ossificans progressiva, Pediatric Radiology. (2001) 31, no. 5, 307–314, https://doi.org/10.1007/s002470100447, 2-s2.0-0035020150.
- 14 Smilde B. J., Botman E., de Ruiter R. D., Smit J. M., Teunissen B. P., Lubbers W. D., Schwarte L. A., Schober P., and Eekhoff E. M. W., Monitoring and management of fibrodysplasia ossificans progressiva: current perspectives, Orthopedic Research and Reviews. (2022) 14, 113–120, https://doi.org/10.2147/ORR.S337491, 35480068.
- 15 Kaplan F. S., Zasloff M. A., Kitterman J. A., Shore E. M., Hong C. C., and Rocke D. M., Early mortality and cardiorespiratory failure in patients with fibrodysplasia ossificans progressiva, JBJS. (2010) 92, no. 3, 686–691, https://doi.org/10.2106/JBJS.I.00705, 2-s2.0-77950874805, 20194327.
- 16
Chen H., N. Thapa, Atlas of Genetic Diagnosis and Counseling, 2017, 3rd edition, Springer Nature, https://doi.org/10.1007/978-1-4939-2401-1.
10.1007/978-1-4939-2401-1 Google Scholar
- 17 Kitterman J. A., Kantanie S., Rocke D. M., and Kaplan F. S., Iatrogenic harm caused by diagnostic errors in fibrodysplasia ossificans progressiva, Pediatrics. (2005) 116, no. 5, e654–e661, https://doi.org/10.1542/peds.2005-0469, 2-s2.0-25844523629, 16230464.
- 18 Zorzi A. R., Delai P. R., Rosa H. L. C., Brito W. E., Montalli V. A. M., Napimoga J. C., Napimoga M. H., and NocitiF. H.Jr., Fibrodysplasia ossificans progressiva in Brazil: challenges and strategies to create assistance and educational networks, Orphanet Journal of Rare Diseases. (2022) 17, no. 1, https://doi.org/10.1186/s13023-022-02503-6, 36071499.
- 19 Nikishina I. P., Arsenyeva S. V., Matkava V. G., Arefieva A. N., Kaleda M. I., Smirnov A. V., Blank L. M., and Kostik M. M., Successful experience of tofacitinib treatment in patients with fibrodysplasia ossificans progressiva, Pediatric Rheumatology Online Journal. (2023) 21, no. 1, https://doi.org/10.1186/s12969-023-00856-1, 37644581.
- 20 Kaplan F. S., Al Mukaddam M., Baujat G., Brown M., Cali A., Cho T. J., Crowe C., De Cunto C., Delai P., Diecidue R., and Di Rocco M., The medical management of fibrodysplasia ossificans progressiva: current treatment considerations, Proc Intl Clin Council FOP 3, 2024, 1–159.
- 21 Meng X., Wang H., and Hao J., Recent progress in drug development for fibrodysplasia ossificans progressiva, Molecular and Cellular Biochemistry. (2022) 477, no. 10, 2327–2334, https://doi.org/10.1007/s11010-022-04446-9, 35536530.
- 22 Pignolo R. J., Baujat G., Hsiao E. C., Keen R., Wilson A., Packman J., Strahs A. L., Grogan D. R., and Kaplan F. S., Palovarotene for fibrodysplasia ossificans progressiva (FOP): results of a randomized, placebo-controlled, double-blind phase 2 trial, Journal of Bone and Mineral Research. (2022) 37, no. 10, 1891–1902, https://doi.org/10.1002/jbmr.4655, 35854638.
- 23 An efficacy and safety study of palovarotene for the treatment of fibrodysplasia ossificans progressiva. (MOVE), https://clinicaltrials.gov/study/NCT03312634.
- 24 To assess the efficacy, safety, and tolerability of INCB000928 in participants with fibrodysplasia ossificans progressiva (Progress), https://clinicaltrials.gov/study/NCT05090891.
- 25 A study to assess safety, tolerability and efficacy of garetosmab versus placebo administered intravenously (IV) in adult participants with fibrodysplasia ossificans progressiva (FOP) (OPTIMA), https://clinicaltrials.gov/study/NCT05394116.