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Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.

Faruqi T, Dhawan N, Bahl J, Gupta V, Vohra S, Tu K, Abdelmagid SM - Biomed Res Int (2014)

Bottom Line: Inhibitors of the ACVR1/ALK2 pathway may serve as possible therapeutic intervention for FOP.Cell therapy, bisphosphonate polytherapy, and human growth hormone may avert the pathology in osteogenesis imperfecta, but further studies are needed.There are still no current effective treatments for these bone disorders; however, significant promising advances in therapeutic modalities were developed that will limit patient suffering and treat their skeletal disabilities.

View Article: PubMed Central - PubMed

Affiliation: Nova Southeastern University Health Sciences Division, Fort-Lauderdale-Davie, FL 33314, USA.

ABSTRACT
A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD) of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. These rare bone disorders also represent a therapeutic challenge for clinicians, due to lack of understanding of underlying mechanisms. This systematic review explored current literature on therapeutic directions for the following rare genetic bone disorders: fibrous dysplasia, Gorham-Stout syndrome, fibrodysplasia ossificans progressiva, melorheostosis, multiple hereditary exostosis, osteogenesis imperfecta, craniometaphyseal dysplasia, achondroplasia, and hypophosphatasia. The disease mechanisms of Gorham-Stout disease, melorheostosis, and multiple hereditary exostosis are not fully elucidated. Inhibitors of the ACVR1/ALK2 pathway may serve as possible therapeutic intervention for FOP. The use of bisphosphonates and IL-6 inhibitors has been explored to be useful in the treatment of fibrous dysplasia, but more research is warranted. Cell therapy, bisphosphonate polytherapy, and human growth hormone may avert the pathology in osteogenesis imperfecta, but further studies are needed. There are still no current effective treatments for these bone disorders; however, significant promising advances in therapeutic modalities were developed that will limit patient suffering and treat their skeletal disabilities.

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Related in: MedlinePlus

Pathogenesis and potential therapeutic interventions of melorheostosis.
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fig7: Pathogenesis and potential therapeutic interventions of melorheostosis.

Mentions: There is no treatment for melorheostosis, although several potential therapeutic modalities have been suggested (Figure 7). Current management is highly individualized and is based on the severity of the disease, areas of skeletal involvement, and symptoms experienced by the patient. Surgical treatment is undertaken when an adverse or life threatening complication needs to be avoided. Zeiller et al. [41] performed cervicothoracic decompressive laminectomy to alleviate the worsening neurologic condition in their patients. A follow-up examination conducted six months after the surgery revealed symptomatic improvement of the disease. In another case, Moulder and Marsh [46] were successfully able to treat melorheostosis by total knee arthroplasty. Recently, Hollick et al. [45] were able to achieve a significant reduction of the lesions in melorheostosis with the associated symptoms by a single 5 mg infusion of zoledronic acid administered over a duration of 30 minutes. A follow-up conducted eighteen months after the initial therapy revealed an asymptomatic patient with no further need for treatment.


Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.

Faruqi T, Dhawan N, Bahl J, Gupta V, Vohra S, Tu K, Abdelmagid SM - Biomed Res Int (2014)

Pathogenesis and potential therapeutic interventions of melorheostosis.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4230237&req=5

fig7: Pathogenesis and potential therapeutic interventions of melorheostosis.
Mentions: There is no treatment for melorheostosis, although several potential therapeutic modalities have been suggested (Figure 7). Current management is highly individualized and is based on the severity of the disease, areas of skeletal involvement, and symptoms experienced by the patient. Surgical treatment is undertaken when an adverse or life threatening complication needs to be avoided. Zeiller et al. [41] performed cervicothoracic decompressive laminectomy to alleviate the worsening neurologic condition in their patients. A follow-up examination conducted six months after the surgery revealed symptomatic improvement of the disease. In another case, Moulder and Marsh [46] were successfully able to treat melorheostosis by total knee arthroplasty. Recently, Hollick et al. [45] were able to achieve a significant reduction of the lesions in melorheostosis with the associated symptoms by a single 5 mg infusion of zoledronic acid administered over a duration of 30 minutes. A follow-up conducted eighteen months after the initial therapy revealed an asymptomatic patient with no further need for treatment.

Bottom Line: Inhibitors of the ACVR1/ALK2 pathway may serve as possible therapeutic intervention for FOP.Cell therapy, bisphosphonate polytherapy, and human growth hormone may avert the pathology in osteogenesis imperfecta, but further studies are needed.There are still no current effective treatments for these bone disorders; however, significant promising advances in therapeutic modalities were developed that will limit patient suffering and treat their skeletal disabilities.

View Article: PubMed Central - PubMed

Affiliation: Nova Southeastern University Health Sciences Division, Fort-Lauderdale-Davie, FL 33314, USA.

ABSTRACT
A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD) of the United States. Over 6,000 rare disorders affect approximately 1 in 10 Americans. Rare genetic bone disorders remain the major causes of disability in US patients. These rare bone disorders also represent a therapeutic challenge for clinicians, due to lack of understanding of underlying mechanisms. This systematic review explored current literature on therapeutic directions for the following rare genetic bone disorders: fibrous dysplasia, Gorham-Stout syndrome, fibrodysplasia ossificans progressiva, melorheostosis, multiple hereditary exostosis, osteogenesis imperfecta, craniometaphyseal dysplasia, achondroplasia, and hypophosphatasia. The disease mechanisms of Gorham-Stout disease, melorheostosis, and multiple hereditary exostosis are not fully elucidated. Inhibitors of the ACVR1/ALK2 pathway may serve as possible therapeutic intervention for FOP. The use of bisphosphonates and IL-6 inhibitors has been explored to be useful in the treatment of fibrous dysplasia, but more research is warranted. Cell therapy, bisphosphonate polytherapy, and human growth hormone may avert the pathology in osteogenesis imperfecta, but further studies are needed. There are still no current effective treatments for these bone disorders; however, significant promising advances in therapeutic modalities were developed that will limit patient suffering and treat their skeletal disabilities.

Show MeSH
Related in: MedlinePlus