Vitamin D deficiency in patients with erythropoietic protoporphyria
| Autor: | J. H. P. Wilson, F. W. M. de Rooij, A. A. M. Zandbergen, J. M. C. Spelt |
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| Rok vydání: | 2013 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent Porphyria Erythropoietic Protoporphyrins vitamin D deficiency chemistry.chemical_compound Young Adult Sex Factors Risk Factors Internal medicine Genetics Vitamin D and neurology medicine Prevalence Humans Vitamin D skin and connective tissue diseases Genetics (clinical) Aged Netherlands Sunlight integumentary system biology business.industry Zinc protoporphyrin Ferrochelatase Middle Aged medicine.disease Vitamin D Deficiency Endocrinology Porphyria Cross-Sectional Studies chemistry Case-Control Studies biology.protein Quality of Life Protoporphyrin Female Erythropoietic protoporphyria business Biomarkers |
| Zdroj: | Journal of inherited metabolic disease. 33 |
| ISSN: | 1573-2665 |
| Popis: | The main symptom of patients with erythropoietic protoporphyria (EPP) is painful photosensitivity, starting within minutes of sun exposure and leading to sun-avoidance. As 80-100% of vitamin D is synthesized under the influence of sunlight, we investigated whether the avoidance of sunlight exposure in the Dutch EPP patient population causes vitamin D deficiency. Furthermore, we studied the relation between vitamin D levels, total erythrocyte protoporphyrin and quality of life.In a cross-sectional study of 48 Dutch EPP patients (mean age 41.4 years; range 16-77; 23 male, 25 female), we assessed serum 25-hydroxyvitamin D (25(OH)D) levels between June and November 2007, as well as total erythrocyte protoporphyrin (TEP) levels and Dermatology Life Quality Index (DLQI) scores.Mean serum 25(OH)D was 66 nmol/L (range 18-140, quartiles 36, 87). Twenty-two patients (46%; 15 male, 7 female) were vitamin D deficient. There was a significant difference (p = 0.029) in mean serum 25(OH)D between female (mean 75 nmol/L, range 18-140) and male patients (mean 55 nmol/L, range 18-115). The level of serum 25(OH)D showed a negative correlation with total erythrocyte protoporphyrin (TEP) (Pearson rank correlation (r(p)) = -0.337; p = 0.034). Serum 25(OH)D was inversely associated with scores of the Dermatology Life Quality Index (DLQI) (Spearman's rho correlation (r(s)) = -0.486; p = 0.001).The prevalence of vitamin D deficiency is high in the Dutch EPP population, especially in male patients, and correlates with the severity of EPP. Screening for and treatment of vitamin D deficiency should therefore be implemented in the care of these patients. |
| Databáze: | OpenAIRE |
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