Vitamin D and chronic spontaneous urticaria: searching for algorithms of personalized therapy

2021 ◽  
Vol 17 (4) ◽  
pp. 95-101
Author(s):  
Ilya V. Kukes ◽  
Elena Yu. Borzova ◽  
Natalya M. Nenasheva ◽  
Dmitriy A. Sychev
Keyword(s):  
Vitamin D ◽  
Genetic Variability ◽  
Vitamin D Deficiency ◽  
Patient Management ◽  
Chronic Spontaneous Urticaria ◽  
Vitamin D Binding Protein ◽  
Vitamin D Metabolism ◽  
Vitamin D Levels

Today, we can see a great interest in vitamin D because it participates in the regulation of many metabolic processes, and its deficiency is associated with the development of various diseases. Chronic spontaneous urticaria (CSU) is the disease that affects the quality of patients life, and the existing strategy of patient management is not always sufficiently effective. Nowadays, there is enough information about the role of vitamin D deficiency and the severity of CSU. That is why it is important to study not only therapeutic schemes, but also a role of genetic variability that may have an impact on vitamin D levels. Such studies will help to personalize the treatment schemes for patients with CSU. At the same time, the focus of these studies should be not only on the receptor and vitamin D binding protein, but also on P450 system, which plays a key role in the vitamin D metabolism.

The role of vitamin D dificiency in the development of pathology in women of perimenopausal age

2018 ◽  
pp. 76-79
Author(s):  
Kh.V. Kozak ◽  
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Neurological Diseases ◽  
Research Direction ◽  
Literary Sources ◽  
Autoimmune Conditions ◽  
Calcium Phosphorus ◽  
The Relationship

The article presents an analysis of literary sources about contemporary views on the role of vitamin D deficiency in the health problems of women of the perimenopausal period. According to research data of recent years, vitamin D plays a role not only in the control of calcium-phosphorus metabolism, but also plays a role in the pathogenesis of cardiovascular and neurological diseases, insulin resistance and diabetes, in the development of cancer and autoimmune conditions, especially in women of perimenopausal age. It is important to continue the study of the relationship between vitamin D deficiency and menopausal and menopausal disorders. Currently, the existing principles and effectiveness of the correction of lack of vitamin D in improving the quality of life of women of perimenopausal age are ambiguously assessed, which determines the relevance of this research direction. Key words: perimenopausal period, insufficiency/deficiency of vitamin D.

P–662 Study on D-vitamin, AMH and insulin interrelation in Polycystic Ovary Syndrome (PCOS) patients

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
A Coc. Lizarraga ◽  
S Lindenberg ◽  
G Juu. Almind ◽  
F Lindenberg
Keyword(s):  
Insulin Resistance ◽  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Serum Vitamin ◽  
Serum Vitamin D ◽  
Vitamin D Levels ◽  
Group A ◽  
D Values ◽  
Group B

Abstract Study question Is vitamin D deficiency more prevalent in PCOS patients? Is there a link between vitamin D levels and metabolic status in PCOS subjects? Summary answer An inverse relationship between vitamin D levels and metabolic status was demonstrated and it is thought to be responsible of its pathogenesis. What is known already PCOS is a multifactorial condition, characterised by failure in oogenesis and anovulation. Obesity is a common condition linked to its clinical features and studies have reported inverse associations between BMI and severity of the condition. Furthermore, 67–85% of PCOS patients have vitamin D deficiency. Low levels of vitamin D have been found to be closely related to insulin resistance, obesity, or hyperandrogenism and there is a significant association between serum vitamin D levels and reproductive function. Other factors such as AMH have also been described as possibly involved in the pathophysiology. Study design, size, duration We performed a retrospective, analytical and observational study in the Copenhagen Fertility Center. Patients referred with cycle abnormalities, hirsutism, and infertility were evaluated. A total of 778 women were enrolled consecutively from January 2019 to October 2020. Subjects who had major medical disorders were excluded. We selected those in which vitamin D was measured in the baseline analysis selecting a total of 396 patients. The further analysis has been carried out from 100 randomly selected patients. Participants/materials, setting, methods Blood samples were drawn after overnight fasting. They were all assayed in the same laboratory. Biochemical parameters were analyzed using descriptive statistics. Same parameters were studied after dividing into vitamin D deficiency group or optimal levels using a multiple t-test. Correlation between variables was determined. Graphpad Prism program version 8 was used to perform the calculations. The level of statistical significance was set at P-value < 0.05. Main results and the role of chance A total of 100 subjects fulfilling the inclusion criteria were selected randomly from 396 PCOS women. Serum vitamin D concentrations were highly variable ranging from 16 nmol/L to 175 nmol/L. The prevalence of vitamin D deficiency was 24% and 41% of the subjects were classified as vitamin D insufficient. Only 35% of our patients had optimal vitamin D values. We compared data between the group with optimal values of vitamin D (Group A) versus the group with insufficient/deficient vitamin D values (Group B). We found statistical difference between groups in PTH values, being notably higher in group B compared with group A. Despite no statistically significant difference was obtained, it is important to highlight that the mean of SHBG was lower in group B and the mean of androstenedione, AMH, FAI and HOMA-IR were much higher in this group as well. Following the HOMA-IR criteria, 55% of patients had insulin resistance. Specifically, 26% had moderate insulin resistance and 29% severe insulin resistance. Levels of vitamin D were negatively correlated with FAI, AMH and HOMA-IR and positively correlated with HDL-Cholesterol and SHBG. Statistically significant differences were evidenced in the correlation between vitamin D and FAI and SHBG. Limitations, reasons for caution This is a retrospective observational study on a consecutive admitted patient group with a lack of a control group. Another limitation is the small sample size. It is difficult to generalize with other degrees of severity. We didn’t assess seasonal variability or if they were taking any vitamin D supplementation. Wider implications of the findings: Properly randomized clinical trials are mandatory to achieve more conclusive results about the role of vitamin D. Available evidence is promising but not sufficient to draw final conclusions. The aim is to better understand the pathophysiology of the condition and the factors involved and to find new target treatments. Trial registration number 1

scholarly journals P431 Vitamin D binding protein in the limelight: IBD-related inflammation and circulating levels of vitamin D binding protein, total, free and bioavailable 25-hydroxyvitamin D

2020 ◽  
Vol 14 (Supplement_1) ◽  
pp. S393-S393
Author(s):  
A Aksan ◽  
K Böttger ◽  
N Hein ◽  
Y Caicedo-Zea ◽  
I Diehl ◽  
...  
Keyword(s):  
Vitamin D ◽  
Binding Protein ◽  
Transferrin Saturation ◽  
Simultaneous Detection ◽  
Full Blood Count ◽  
Vitamin D Binding Protein ◽  
Vitamin D Metabolism ◽  
Hydroxyvitamin D ◽  
Vitamin D Levels ◽  
25 Hydroxyvitamin D

Abstract Background Vitamin D deficiency occurs frequently in patients with Crohn’s disease (CD) and ulcerative colitis (UC). While recent cohort studies support an association of vitamin D with important clinical parameters and outcomes in IBD, the complex interplay of inflammation with vitamin D metabolism in IBD poses a viscious circle. We sought to further illucidate the relation between inflammation and different vitamin D parameters. To the best our knowledge, this was the first study to focus on the relationship between vitamin D binding protein (VDBP), circulating total, free, and bioavailable 25-hydroxyvitamin D (25(OH)D), and inflammation, in adult IBD patients. Methods This was a comparative, single-centred, cross-sectional study in patients with IBD aged 18–65 years. Full blood count, transferrin, albumin and hsCRP were determined by standard methods. The presence/absence of inflammation was assessed based on serum hsCRP levels (cutoff <5mg/l). VDBP levels were determined by ELISA, and 25(OH)D by LCMS. Free and bioavailable vitamin D levels were calculated using the validated formula. IBM SPSS version 25.0 was used for statistical analysis. Results In total, 129 subjects with IBD (70 male/59 female; 82 CD/47 UC; mean age 41.7 ± 12.6 years) were enrolled. Of these, 38/129 had inflammation (19 m/19 f; 26 CD/12 UC; 39.6 ± 12.9 years) while 91/129 had no inflammation (40 m/51 f; 56 CD/35 UC; 42.5 ± 12.5 years). Subjects with disease activity had significantly higher leukocyte, erythrocyte sedimentation rate (ESR) and hsCRP, but lower transferrin, transferrin saturation (TSAT) and albumin levels than those without inflammation (p < 0.05). Average serum levels of 25(OH)D (24.6[6.8–54.8] vs. 26.4[5.0–74.4]ng/ml), free 25(OH)D (5.9[1.3–13.3] vs. 1.0[1.0–21.4]ng/ml) and bioavailable 25(OH)D(2.3 [0.1–4.7] vs. 2.4[0.5–19.5]ng/ml) were similar in patients with vs. without inflammation (p > 0.05). However, VDBP levels were significantly higher in inflammatory conditions (359.6[252.2–530.6] mg/l vs. 327.4[183.5–560.3]mg/l; p < 0.05) and showed a positive correlation with CRP levels (0.293, p < 0.001). Ratio of free/total 25(OH)D correlated negatively with CRP levels (−0.282, p = 0.002). Conclusion High levels of circulating VDBP were associated with inflammatory activity. Moreover, free/total 25(OH)D ratio was inversely associated with inflammation. Other vitamin D parameters including total, free and bioavailable 25(OH)D showed no association with inflammation. These findings suggest that VDBP may play a bigger role than thought as a modulator of vitamin D and inflammation, and that simultaneous detection and investigation of plasma VDBP may provide additional insights into this complex interaction.

scholarly journals 0809 A Randomized Double-blind, Placebo Controlled Trial With Cross-over, To Assess The Efficacy Of Correcting Vitamin D Deficiency In Improving The Symptoms Of Restless Legs Syndrome (RLS)

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A307-A308
Author(s):  
J Wong ◽  
D Gupta ◽  
A Nadhim ◽  
S Bhat ◽  
P Polos
Keyword(s):  
Vitamin D ◽  
Iron Deficiency ◽  
Vitamin D Deficiency ◽  
Controlled Trial ◽  
Activity Count ◽  
Double Blind ◽  
Vitamin D Levels ◽  
Effect Of Treatment ◽  
B Vitamin

Abstract Introduction Recent studies have shown an association of low Vitamin D levels and severity of RLS symptoms. However, effect of treatment of Vit D deficiency on RLS symptoms was not reported, nor were other exacerbating factors for RLS such as iron deficiency or OSA addressed in prior studies, but have been addressed in our study. Methods This is an ongoing study at the JFKMC Sleep Clinic. Eligible Patients with RLS include those with vitamin D 25,hydroxy deficiency (<20 ng/ml), or insufficiency (<30 ng/ml). Such patients will be enrolled in the study after comorbid conditions like iron deficiency and OSA have been adequately corrected. Randomization of the patients will be done by the JFK pharmacy so the patient and provider are blinded to the substance. Substance A or B could be either Vitamin D3 Capsule 50,000 IU, or placebo. Each patient takes A for 6 weeks and then crosses over to B for 6 weeks. Weekly iRLS questionnaires will be collected. Actiwatch Device, to assess activity count per minute, will be worn on the ankle at night for one week time periods: at baseline, at end of 6 weeks of taking A and then at the end of 6 weeks of taking B. Vitamin D levels will also be assessed after each course of supplementation and correlated with subjective and objective findings. Results Between July 7, 2019 to current, 50 consecutive patients seen in sleep clinic with RLS were assessed for vitamin D levels. Ages ranged from 23-86 years. 27 patients were female (54%). Two patients met inclusion criteria and have started their 13-week study. Conclusion This study will help to establish the role of Vitamin D deficiency as a risk factor for RLS, independent of ferritin levels, and comorbid OSA, in affected individuals. This may help to discover a potentially treatable form of RLS. Support No financial support.

scholarly journals Vitamin D Metabolism Is Significantly Impaired in COVID-19 Inpatients

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A281-A282
Author(s):  
Alexandra Povaliaeva ◽  
Liudmila Ya Rozhinskaya ◽  
Ekaterina A Pigarova ◽  
Larisa K Dzeranova ◽  
Nino N Katamadze ◽  
...  
Keyword(s):  
Vitamin D ◽  
Secondary Hyperparathyroidism ◽  
Vitamin D Deficiency ◽  
Serum Calcium ◽  
Vitamin D Supplementation ◽  
Vitamin D Metabolites ◽  
Lung Involvement ◽  
Hydroxylase Activity ◽  
Vitamin D Metabolism ◽  
Vitamin D Levels

Abstract Objective: to assess the state of vitamin D metabolism in patients hospitalized with COVID-19 infection. Materials and methods: We examined 49 patients, which were hospitalized for inpatient treatment of COVID-19 infection from May to June 2020. Study group included 24 men (49%) and 25 women (51%), median age 58 years [48; 70], BMI 26.4 kg/m2 [24.3; 30.5]. All patients were diagnosed with pneumonia due to SARS-CoV-2 with median percent of lung involvement equal to 29% [14; 37], 22 patients (45%) required oxygen support upon admission. Median SpO2 was equal to 95% (92; 97), median NEWS score was equal to 3 [2; 6]. Participants were tested for vitamin D metabolites (25(OH)D3, 1,25(OH)2D3, 3-epi-25(OH)D3, 24,25(OH)2D3 and D3) by UPLC-MS/MS, free 25(OH)D and vitamin D-binding protein by ELISA, as well as PTH by electrochemiluminescence immunoassay and routine biochemical parameters of blood serum (calcium, phosphorus, albumin) at the time of admission. Results: patients had in general very low 25()D3 levels - median 10.9 ng/mL [6.9; 15.6], corresponding to a pronounced vitamin D deficiency in half of the patients. Levels of 24,25(OH)2D3 were also low – 0.5 ng/mL [0.2; 0.9], and resulting vitamin D metabolite ratios (25(OH)D3/24,25(OH)2D3) were high-normal or elevated in most patients – 24.1 [19.0; 39.2], indicating decreased activity of 24-hydroxylase. Levels of 1,25(OH)2D3, on the contrary, were high-normal or elevated - 57 pg/mL [46; 79], which, in accordance with 25(OH)D3/1,25(OH)2D3 ratio (219 [134; 266]) suggests an increase in 1α-hydroxylase activity. Median level of 3-epi-25(OH)D3 was 0.7 ng/mL [0.4; 1.0] and D3 metabolite was detectable only in 6 patients. Median DBP level was 432 mg/L [382; 498], median free 25(OH)D was 5.6 pg/mL [3.3; 6.7], median calculated free 25(OH)D was 2.0 pg/mL [1.4; 3.3]. Most patients had albumin-adjusted serum calcium level in the lower half of reference range (median 2.24 mmol/L [2.14; 2.34]). Seven patients had secondary hyperparathyroidism and one patient had primary hyperparathyroidism, the rest of the patients had PTH levels within the normal range.25(OH)D3 levels showed significant negative correlation with percent of lung involvement (r = -0.36, p<0.05) and positive correlation with SpO2 (r = 0.4, p<0.05). 1,25(OH)2D3 levels correlated positively with 25(OH)D3 levels (r = 0.38, p<0.05) and did not correlate significantly with PTH levels (p>0.05). Conclusion: Our data suggests that hospitalized patients with COVID-19 infection have significant impairment of vitamin D metabolism, in particular, an increase in 1α-hydroxylase activity, which cannot be fully explained by pre-existing conditions such as vitamin D deficiency and secondary hyperparathyroidism. The observed profound vitamin D deficiency and association of vitamin D levels with markers of disease severity indicate the importance of vitamin D supplementation in these patients.

scholarly journals VITAMIN D TRENDS IN THE PEDIATRIC ORTHOPAEDIC POPULATION: A SURVEY

2019 ◽  
Vol 7 (3_suppl) ◽  
pp. 2325967119S0013
Author(s):  
Kevin A. Williams ◽  
Michael Horan
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Compliance Rate ◽  
Vitamin D Supplementation ◽  
Chi Square ◽  
Potential Health ◽  
Vitamin D Levels ◽  
Orthopaedic Literature ◽  
Pediatric Orthopaedic

Background: Vitamin D deficiency is a global issue, affecting adults and children of all ages, races and genders. Within the last decade, multiple studies have demonstrated the potential health benefits of vitamin D supplementation including improved bone health, reduced fracture risk, protection from autoimmune disease, and decreased cancer risk. Because of the prevalence of vitamin D deficiency in pediatric populations despite recent evidence of increased vitamin D supplementation in the US, our goal is to assess the knowledge of current vitamin D recommendations among Pediatric Society of North America (POSNA) members. It is our purpose to use the data to increase awareness and understanding of vitamin D amongst all pediatric providers. Methods: Our survey was distributed to 1316 POSNA members via a series of 2 email requests in which they were invited to participate in the survey on the Survey Monkey website. Their participation was entirely voluntary and they agreed to participate by responding positively on the first page of the survey. The data was depersonalized and analyzed via chi square and Fisher’s exact testing. Results: 395 responses were recorded. 9 participants opted out of the survey. 69% of participants rated their vitamin D knowledge as fair to good. 68% of participants have been in practice over ten years and represented most US geographic regions fairly equally. Most estimate that over 25% of their practice is vitamin D deficient with about a 50% compliance rate of supplementation. Over 30% of participants feel vitamin D management is mostly the role of the pediatrician, however 64% of participants discuss or check vitamin D levels in their practice for patients with repeat fractures, medical comorbidities, or nonunions most commonly. Conclusion: Survey participants demonstrated a wide variety of responses indicating their understanding of vitamin D testing and supplementation. Although providers estimate a high deficiency rate, many do not routinely check vitamin D. When they do check, there is no standard indication for testing or supplementation and many believe this to be the role of the pediatrician or endocrinologist. More studies are needed to provide a standardized protocol for vitamin D testing/supplementation in the pediatric orthopaedic literature.

The role of vitamin D in the development of cardiac arrhythmias in locomotive drivers

2021 ◽  
Vol 61 (3) ◽  
pp. 202-207
Author(s):  
Natalya V. Orlova ◽  
Anastasiya Ya. Starokozheva ◽  
Elena A. Zhidkova ◽  
Konstantin G. Gurevich
Keyword(s):  
Vitamin D ◽  
Sudden Death ◽  
Vitamin D Deficiency ◽  
Cardiac Arrhythmias ◽  
Heart Defects ◽  
Heart Rhythm ◽  
Thromboembolic Complications ◽  
Heart Rhythm Disorders ◽  
Vitamin D Levels

Introduction. Heart rhythm disorders in locomotive drivers are a significant disease that increases the risk of sudden death and thromboembolic complications, including during professional duties. Conditions associated with cardiac arrhythmias in locomotive drivers can create a state for disastrous situations on the railway. Identification of risk factors for heart rhythm disorders and their prevention in locomotive drivers is an important task. The study aimed to study the role of vitamin D in developing cardiac arrhythmias in locomotive drivers. Materials and methods. We recruited the patients in the cardiology department's conditions, JSC "Russian Railways" in Moscow. The study included patients with detected cardiac arrhythmias. We did not have patients with a history of surgical treatment of cardiac arrhythmias with organic myocardial diseases. Namely: ischemic heart disease, myocarditis, congenital and acquired heart defects, cardiomyopathy. Also, scientists did not study patients with somatic disorders, decompensation of chronic diseases, and endocrine and urinary systems. Results. The study revealed a widespread prevalence of low vitamin D levels among locomotive drivers with cardiac arrhythmias. The statistical analysis showed the effect of vitamin D deficiency on cardiac arrhythmias' development with a high risk of sudden death and thromboembolic complications. We revealed the negative impact of occupational stress on the development of cardiac arrhythmias in locomotive drivers. Scientists have found the relationship of vitamin D deficiency with the level of anxiety of drivers. A review of studies on the role of vitamin D deficiency in developing cardiovascular diseases, including cardiac arrhythmias, is presented. The results of the study are consistent with the data of the scientific literature. Conclusions. It is necessary to survey locomotive drivers to identify vitamin D deficiency with the subsequent correction to prevent cardiac arrhythmias.

Role of Vitamin D in the Management of COVID-19 Patients Regarding Morbidity and Mortality

2021 ◽  
Vol 15 (6) ◽  
pp. 1231-1233
Author(s):  
A. W. Khan ◽  
H. T. Hussain ◽  
Z.U. Mustafa ◽  
M. A. Qamar ◽  
M. A. Qamar ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Body Mass ◽  
Morbidity And Mortality ◽  
P Value ◽  
Mortality And Morbidity ◽  
Severe Vitamin ◽  
Vitamin D Levels

Aim: To determine the role of vitamin D in the management of COVID-19 patients regarding morbidity and mortality. Study Design: Prospective/Observational Place and Duration: Departments of Medicine & Pulmonology, Allama Iqbal Memorial Teaching Hospital, Sialkot and Department of Medicine, Sughra Shafi Medical Complex Narowal from 1st November 2020 to 30th April 2020. Methodology: One hundred and sixty patients of both genders diagnosed to have COVID-19, were enrolled. Patient’s ages were ranging from 17 to 70 years. The detailed demographics such as age, sex, and body mass index were recorded. 5 ml blood samples were taken from all the patients to check their vitamin D levels. Severe Vitamin D deficiency was defined as 25(OH)D <25 nmol/L (10 ng/dl). Association between mortality and morbidity was examined. Results: Ninety (56.25%) were males while 70 (43.75%) were females with mean age 40.15±17.37 years. Mean body mass index of patients was 24.16±7.26 kg/m2. Severe vitamin D deficiency was observed in 80 (50%) patients. Mortality found in 30 (18.75%) patients. Frequency of morbidity was among 66 (41.25%) patients. Patients with severe vitamin D deficiency had high rate of mortality 20 (25%) and morbidity 50 (62.5%) as compared to patients with no vitamin D deficiency had 10 (8%) mortality and 16 (20%) morbidity. A significant association was observed between severe vitamin D deficiency regarding morbidity and mortality among patients with covid-19 disease with p-value <0.05. Conclusion: The vitamin-D has strongest relationship among patients with covid-19 disease to reduce mortality and morbidity. Keywords: Morbidity, COVID-19, Vitamin D, Mortality

scholarly journals Vitamin D and Rehabilitation after Stroke: Status of Art

2020 ◽  
Vol 10 (6) ◽  
pp. 1973 ◽  
Author(s):  
Mariacristina Siotto ◽  
Massimo Santoro ◽  
Irene Aprile
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Stroke Recovery ◽  
Stroke Severity ◽  
Nucleotide Polymorphisms ◽  
Stroke Patients ◽  
Vitamin D Metabolism ◽  
Rehabilitation Treatment ◽  
Post Stroke ◽  
Vitamin D Levels

Stroke is the first cause of disability in the population and post-stroke patients admitted to rehabilitation units often present a malnutrition status which can influence nutritional indices and then vitamin levels. Vitamin D deficiency seems implicated beyond stroke severity and stroke risk, and also affects post-stroke recovery. Some studies on vitamin D levels and outcome in stroke patients are available but very few data on vitamin D levels and outcome after rehabilitation treatment are reported. This literature review shows the possible relationship between vitamin D deficiency and recovery in post-stroke patients undergoing rehabilitation treatment. Moreover, because several studies have reported that single nucleotide polymorphisms and promoter methylation in genes are involved in vitamin D metabolism and might affect circulating vitamin D levels, these aspects are evaluated in the current paper. From the studies evaluated in this review, it emerges that vitamin D deficiency could not only have an important role in the recovery of patients undergoing rehabilitation after a stroke, but that genetic and epigenetic factors related to vitamin D levels could have a crucial role on the rehabilitation outcome of patients after stroke. Therefore, further studies are necessary on stroke patients undergoing rehabilitation treatment, including: (a) the measurement of the 25(OH) vitamin D serum concentrations at admission and post rehabilitation treatment; (b) the identification of the presence/absence of CYP2R1, CYP27B1, CYP24A1 and VDR polymorphisms, and (c) analysis of the methylation levels of these genes pre- and post-rehabilitation treatment.

scholarly journals MON-372 Treatment-Resistant Vitamin D Deficiency: Is It a Vitamin D Binding Protein Issue?

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Sirisha Thambuluru ◽  
Imran Unal ◽  
Stuart Frank ◽  
Amy Warriner ◽  
Fernando Ovalle ◽  
...  
Keyword(s):  
Vitamin D ◽  
Alkaline Phosphatase ◽  
Vitamin D Deficiency ◽  
Binding Protein ◽  
High Dose ◽  
Vitamin D Metabolites ◽  
Vitamin D Binding Protein ◽  
Treatment Resistant ◽  
Vitamin D Levels ◽  
25 Oh Vitamin D

Abstract Introduction Vitamin D is present in free and bound forms; the bound form is complexed mainly to vitamin D binding protein (DBP). Vitamin D levels are affected by age, pregnancy, liver disease, obesity, and DBP mutations. We report a patient with treatment-resistant vitamin D deficiency suggestive of a DBP with abnormal vitamin D binding. Clinical Case A 58-year-old Pakistani male with a history of hypertension, sleep apnea and hypogonadism presented to endocrine clinic with symptoms including fatigue, generalized muscle cramps, and joint pain. Evaluation of common causes of fatigue, such as anemia, thyroid dysfunction and adrenal insufficiency were ruled out with CBC, thyroid hormone levels and ACTH stimulation test results all within normal ranges. A 25-OH vitamin D level was profoundly low (4.2 ng/ml; normal 30-100), and a 1,25-OH vitamin D level was undetectable (&lt;8 pg/ml; normal 18-72), leading to a presumptive diagnosis of severe vitamin D deficiency. However, his calcium, phosphorus, alkaline phosphatase and kidney function were in the normal range. Furthermore, the absence of osteoporosis, fracture history, or kidney stones suggested adequate vitamin D action at target tissues; PTH levels were high-normal to minimally elevated, ranging 70-94 pg/ml (12-88pg/mL). Aggressive supplementation with vitamin D3 at 50,000 IU 3 times a week and 5,000 IU daily failed to normalize 25-OH vitamin D (ranged 4.6-10ng/ml; normal 30-100) and 1,25-OH vitamin D levels remained undetectable. Addition of calcitriol resulted in mild hypercalcemia and was discontinued. Malabsorption did not appear to be a contributing factor, as a negative tTG antibody (with normal IgA) excluded celiac disease. Vitamin D metabolites levels measured with mass spectrometry showed undetectable 25-OH vitamin D levels (D2 &lt;4 ng/ml, D3 &lt;2 ng/ml; total &lt;6ng/ml; normal 20-50) and 1,25-OH vitamin D levels (&lt;8 pg/ml). Urine N-telopeptide, 24-hour urine calcium (177mg; 100-240) and bone-specific alkaline phosphatase were all normal. Repeat testing over more than five years showed similar results. DBP levels of 269 ug/ml [104-477] excluded DBP deficiency. Clinical Lesson Vitamin D deficiency is increasingly part of routine testing in internal medicine and endocrinology clinics, as is repletion with high-dose vitamin D. However, in rare cases such as this, relying on 25-OH vitamin D levels can be misleading, and supplementation unnecessary or potentially harmful. Thus, treatment decisions should consider the full clinical context and further evaluation performed when warranted. This patient’s labs are suggestive of an abnormality in the DBP, supporting future examination using molecular testing.

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