The Role of Vitamin D in Rare Diseases—A Clinical Review
<b>Background/Objectives:</b> Patients suffering from rare diseases are particularly vulnerable to vitamin D deficiency. The role of vitamin D status in rare disease management remains insufficiently investigated and employed in routine clinical practice. <b>Methods:</b> This...
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MDPI AG
2025-02-01
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| Online Access: | https://www.mdpi.com/2227-9059/13/3/558 |
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| author | Czesław Ducki Marta Wojtkiewicz Marcin Bartoszewicz Piotr Fiedor |
| author_facet | Czesław Ducki Marta Wojtkiewicz Marcin Bartoszewicz Piotr Fiedor |
| author_sort | Czesław Ducki |
| collection | DOAJ |
| description | <b>Background/Objectives:</b> Patients suffering from rare diseases are particularly vulnerable to vitamin D deficiency. The role of vitamin D status in rare disease management remains insufficiently investigated and employed in routine clinical practice. <b>Methods:</b> This review analyses current data on vitamin D status in selected rare diseases of organs involved in vitamin D metabolism: skin (epidermolysis bullosa, morphea), liver (autoimmune hepatitis, primary biliary cholangitis, primary sclerosing cholangitis), kidney (Alport syndrome, Fabry disease), and cystic fibrosis as a model of a systemic rare disease. Additionally, this review critically examines potential drug–vitamin D interactions in the context of rare disease patient polypharmacy. <b>Results:</b> Evidence suggests that vitamin D deficiency is prevalent in rare disease patient populations, often at once exacerbating and being simultaneously exacerbated by the underlying condition. Vitamin D deficiency correlates with worse clinical outcomes and lower quality of life across the examined diseases. Immunoregulatory properties of vitamin D appear relevant for rare diseases with autoimmune components. <b>Conclusions:</b> An urgent need for developing disease-specific clinical practice guidelines, implementing routine vitamin D monitoring in rare disease patient care, and introducing tailored supplementation under the principles of precision medicine is emphasized. |
| format | Article |
| id | doaj-art-a5dc817cf8ea4c53b8107df88cc92ff1 |
| institution | DOAJ |
| issn | 2227-9059 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | MDPI AG |
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| series | Biomedicines |
| spelling | doaj-art-a5dc817cf8ea4c53b8107df88cc92ff12025-08-20T02:42:41ZengMDPI AGBiomedicines2227-90592025-02-0113355810.3390/biomedicines13030558The Role of Vitamin D in Rare Diseases—A Clinical ReviewCzesław Ducki0Marta Wojtkiewicz1Marcin Bartoszewicz2Piotr Fiedor3Mazovian Specialized Health Center in Pruszków, Partyzantów 2/4, 05-802 Pruszków, PolandUniversity of Economics and Human Sciences in Warsaw, Okopowa 59, 01-043 Warsaw, PolandUniversity of Economics and Human Sciences in Warsaw, Okopowa 59, 01-043 Warsaw, PolandUniversity of Economics and Human Sciences in Warsaw, Okopowa 59, 01-043 Warsaw, Poland<b>Background/Objectives:</b> Patients suffering from rare diseases are particularly vulnerable to vitamin D deficiency. The role of vitamin D status in rare disease management remains insufficiently investigated and employed in routine clinical practice. <b>Methods:</b> This review analyses current data on vitamin D status in selected rare diseases of organs involved in vitamin D metabolism: skin (epidermolysis bullosa, morphea), liver (autoimmune hepatitis, primary biliary cholangitis, primary sclerosing cholangitis), kidney (Alport syndrome, Fabry disease), and cystic fibrosis as a model of a systemic rare disease. Additionally, this review critically examines potential drug–vitamin D interactions in the context of rare disease patient polypharmacy. <b>Results:</b> Evidence suggests that vitamin D deficiency is prevalent in rare disease patient populations, often at once exacerbating and being simultaneously exacerbated by the underlying condition. Vitamin D deficiency correlates with worse clinical outcomes and lower quality of life across the examined diseases. Immunoregulatory properties of vitamin D appear relevant for rare diseases with autoimmune components. <b>Conclusions:</b> An urgent need for developing disease-specific clinical practice guidelines, implementing routine vitamin D monitoring in rare disease patient care, and introducing tailored supplementation under the principles of precision medicine is emphasized.https://www.mdpi.com/2227-9059/13/3/558rare diseasesvitamin D statusquality of lifedrug interactionsimmunoregulationclinical practice guidelines |
| spellingShingle | Czesław Ducki Marta Wojtkiewicz Marcin Bartoszewicz Piotr Fiedor The Role of Vitamin D in Rare Diseases—A Clinical Review Biomedicines rare diseases vitamin D status quality of life drug interactions immunoregulation clinical practice guidelines |
| title | The Role of Vitamin D in Rare Diseases—A Clinical Review |
| title_full | The Role of Vitamin D in Rare Diseases—A Clinical Review |
| title_fullStr | The Role of Vitamin D in Rare Diseases—A Clinical Review |
| title_full_unstemmed | The Role of Vitamin D in Rare Diseases—A Clinical Review |
| title_short | The Role of Vitamin D in Rare Diseases—A Clinical Review |
| title_sort | role of vitamin d in rare diseases a clinical review |
| topic | rare diseases vitamin D status quality of life drug interactions immunoregulation clinical practice guidelines |
| url | https://www.mdpi.com/2227-9059/13/3/558 |
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