Prevalence and treatment of vitamin K deficiency in paediatric patients with recessive dystrophic epidermolysis bullosa‐severe subtype

Abstract

Introduction: Patients with recessive dystrophic epidermolysis bullosa-severe subtype (RDEB-S) are at risk of vitamin K deficiency, potentially causing abnormal clotting, excessive bleeding, poor bone metabolism and abnormal vascular calcification. This study quantifies vitamin K deficiency prevalence in this cohort and identifies potential risk-factors to prevent deficiency. Methods: Patients with RDEB-S who attended the EB service between 2014 and 2020 were included. Serum vitamin K and PIVKAII were measured as part of the usual nutritional blood screen. Dietetic and medical notes were reviewed to establish: antibiotic use, enteral feed intake and micronutrient supplementation. Results: A total of 16/25 64% (10/16 female), of children aged 22-180 months, had serum vitamin K and PIVKAII analysed. Six of sixteen (37.5%) patients had vitamin K deficiency requiring supplementation. Two of six (33.3%) normalized serum vitamin K after 12 weeks supplementation with oral menadiol diphosphate. Four of six (66.6%) await retesting following supplementation. Six of six (100%) patients with vitamin K deficiency were not consuming a gastrostomy/sip feed. Nine of ten (90%) patients with sufficient vitamin K levels were consuming either; more than 200 ml prescribed sip feed or more than 400-800 ml gastrostomy feed daily (containing 5.9-11 µg/100 ml vitamin K). Patients who were consuming either more than 200 ml prescribed sip feed or more than 400-800 ml gastrostomy feed daily (containing 5.9-11 µg/100 ml vitamin K) were significantly less likely to suffer from vitamin K deficiency (0.08 odds ratio [(1/7)/(5/3)] with significance level p ¼ 0.0342 [95% CI: 0.0074-0.8275]). Sixteen of sixteen (100%) received antibiotics (range 0-4 courses/year; median, 3; IQR, 3). Patients with the most frequent antibiotics (n ¼ 4) had normal vitamin K and PIVKAII levels if they consumed a minimum of 200 ml prescribed sip feed or 400-800 ml gastrostomy feed daily. Sixteen of sixteen (100%) patients took a multivitamin/mineral supplement; none contained vitamin K. Summary: The prevalence of vitamin K deficiency is 37.5% in this cohort. Patients whom were not consuming gastrostomy/sip feeds of at least 200 ml daily were at greatest risk of vitamin K deficiency. Patients on a micronutrient supplement remain at risk of vitamin K deficiency, as mostThis is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Establishing an appropriate level of vitamin D supplementation in paediatric patients with recessive dystrophic epidermolysis bullosa

“…BMD decrease is a multifactorial process in patients with RDEB 3,10–12 . These results illustrate that although sufficient serum vitamin D levels are important for bone health, it is possible that chronic inflammation, reduced mobility and other nutritional deficiencies such as iron and vitamin K will also play a part in this decline in BMD for patients with RDEB 19 …”

“…3,[10][11][12] These results illustrate that although sufficient serum vitamin D levels are important for bone health, it is possible that chronic inflammation, reduced mobility and other nutritional deficiencies such as iron and vitamin K will also play a part in this decline in BMD for patients with RDEB. 19 Vitamin D deficiency in our cohort was due to poor compliance, caused by taste acceptance and/or difficulty purchasing or remembering to take the vitamin D supplements. Since 2017, our in-house clinical practice guidelines have allowed vitamin D supplementation to be given as a once-weekly loading dose (seven times the daily dose given on 1 day).…”

“…3,8 These patients have very high nutritional requirements of macronutrients and micronutrients due to their constant wound healing and often present with higher risk of micronutrient deficiencies. 3,8,[15][16][17][18][19] The chronic level of background inflammation affects many internal pathways, including the growth axis, leading to chronic and severe faltering growth from an early age, which requires intensive dietetic management to attempt to remedy. 3 A number of mechanisms are thought to contribute to the observed low BMD for chronological age seen in RDEB.…”

“…Sufficient nutritional intake can often be a challenge in patients with RDEB, owing to oral mucosa damage, poor dentition, microstomia, oesophageal structuring and reduced tongue movement 3,8 . These patients have very high nutritional requirements of macronutrients and micronutrients due to their constant wound healing and often present with higher risk of micronutrient deficiencies 3,8,15–19 . The chronic level of background inflammation affects many internal pathways, including the growth axis, leading to chronic and severe faltering growth from an early age, which requires intensive dietetic management to attempt to remedy 3 …”