Wolman Disease with a Low Cholesterol Level: An Unusual Laboratory Finding

Wolman disease is a very rare autosomal recessive genetic disorder. The patients have the typical clinical finding of hepatosplenomegaly but with an abnormal lipid profile of high levels of total cholesterol (TC), triglycerides, and low-density lipoprotein cholesterol (LDL-C), but a low level of high-density lipoprotein cholesterol (HDL-C). We report a 1-month-old boy with Wolman disease who had hepatosplenomegaly but with an atypical abnormal lipid profile of low TC level, and very low levels of both LDL-C and HDL-C. The genetic study revealed a compound heterozygous mutation of the LIPA gene, leading to the confirmed diagnosis of Wolman disease.

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Comparative effects of ethanol leaf and stem bark extracts of Irvingia gabonensis (BUSH MANGO) on sodium arsenite-induced lipid profile perturbtions in wistar rats

Clinical Phytoscience ◽

10.1186/s40816-020-00241-5 ◽

2021 ◽

Vol 7 (1) ◽

Author(s):

Efosa Godwin Ewere ◽

Ngozi Paulinus Okolie ◽

Erhunmwunsee Dalton Avan ◽

Patience Edet Umoh

Keyword(s):

Lipid Profile ◽

Wistar Rats ◽

Sodium Arsenite ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Stem Bark ◽

Lipoprotein Cholesterol ◽

Low Density ◽

Low Density Lipoprotein Cholesterol ◽

Irvingia Gabonensis

Abstract Background Exposure to arsenic orchestrates a myriad of noxious health effects, including cancer. Different parts of Irvingia gabonensis are used as herbal remedies in traditional medicine. In this study, the comparative effects of the ethanol leaf (ELEIG) and stem bark extracts (ESEIG) of Irvingia gabonensis on sodium arsenite (SA)-induced lipid profile disturbances in Wistar rats were investigated. Methods Fifty five Wistar rats weighing between 100 g and 179 g were distributed into eleven groups (n=5). Group 1 (control) received feed and water ad libitum. Group 2 received SA at a dose of 4.1 mg/kg body weight (kgbw) for 14 days. Groups 3–11 were treated with the extracts with or without SA. Treatment was done by oral intubation for 14 days. Serum concentrations of total cholesterol (TC), triacylglycerol (TAG), high density lipoprotein cholesterol (HDL-c), low density lipoprotein cholesterol (LDL-c), very low density lipoprotein cholesterol (VLDL-c), total lipids (TL) and atherogenic index of plasma (AIP) were used to determine the lipid profile effects of the extracts. Results Exposure to SA caused significant (p ˂ 0.05) increases in all assayed parameters, relative to control. Post-treatment and simultaneous treatment with ELEIG and ESEIG mitigated the effects of SA. In addition, ELEIG alone at various doses produced results comparable with control values. However, ESEIG alone caused significant (p ˂ 0.05) increases in all assayed parameters, relative to control. Conclusion These results show that ELEIG and ESEIG ameliorate SA-induced lipid profile disturbances in Wistar rats. However, long-term administration of ESEIG alone may be discouraged.

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L-Carnitine Supplementation Increases Trimethylamine-N-Oxide but not Markers of Atherosclerosis in Healthy Aged Women

Annals of Nutrition and Metabolism ◽

10.1159/000495037 ◽

2018 ◽

Vol 74 (1) ◽

pp. 11-17 ◽

Cited By ~ 13

Author(s):

Joanna J. Samulak ◽

Angelika K. Sawicka ◽

Dace Hartmane ◽

Solveiga Grinberga ◽

Osvalds Pugovics ◽

...

Keyword(s):

Lipid Profile ◽

Adhesion Molecule ◽

Serum Proteins ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Lipoprotein Cholesterol ◽

Intercellular Adhesion Molecule ◽

Carnitine Supplementation ◽

Intercellular Adhesion Molecule 1 ◽

Factor Α

Background: L-carnitine can be metabolized to trimethylamine N-oxide (TMAO), a molecule that promotes atherogenesis through its interaction with macrophages and lipid metabolism. Objective: The aim of the present study was to assess whether L-carnitine supplementation may promote changes in selected serum biomarkers of atherosclerosis. Methods: Before the start, in the mid-point and after completing the 24-weeks supplementation protocol, fasting blood samples were taken from the antecubital vein. Plasma free L-carnitine and TMAO were determined by the UPLC/MS/MS method. Serum proteins were determined by the enzyme immunoassay method using commercially available kits. Total cholesterol, high-density lipoprotein-cholesterol, low-density lipoprotein-cholesterol, and triglycerides have been determined using standard automatic analyzer. Results: L-carnitine supplementation elevated fasting plasma carnitine in the mid-point of our study and it remained increased until the end of supplementation period. Moreover, it induced tenfold increase in plasma TMAO concentration but did not affect serum C-reactive protein, interleukin-6, tumour necrosis factor-α, L-selectin, P-selectin, vascular cell adhesion molecule-1, intercellular adhesion molecule-1 or lipid profile markers. Conclusion: We demonstrated that although oral L-carnitine supplementation significantly increased plasma TMAO concentration, no lipid profile changes or other markers of adverse cardiovascular events were detected in healthy aged women over the period of 24 weeks.

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Effect of Hydroxychloroquine on the Lipid Profile of Patients with Sjögren Syndrome

The Journal of Rheumatology ◽

10.3899/jrheum.131156 ◽

2014 ◽

Vol 41 (5) ◽

pp. 902-908 ◽

Cited By ~ 10

Author(s):

Michail P. Migkos ◽

Theodora E. Markatseli ◽

Chrisoula Iliou ◽

Paraskevi V. Voulgari ◽

Alexandros A. Drosos

Keyword(s):

Lipid Profile ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Sjögren Syndrome ◽

Lipoprotein Cholesterol ◽

Atherogenic Index ◽

Entire Group ◽

Sjogren Syndrome ◽

Significant Difference ◽

Changes Over Time

Objective.Many studies have highlighted the hypolipidemic action of hydroxychloroquine (HCQ). We investigated the effect of HCQ on the lipid profile of patients with Sjögren syndrome (SS).Methods.The present retrospective observational study included 71 female patients with SS treated with HCQ. The levels of total cholesterol (TC), high-density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol, triglycerides (TG), and atherogenic index (TC/HDL) were measured at baseline, after 6 months, and 1, 3, and 5 years after initiation of HCQ treatment. Analysis to investigate changes over time was performed in the entire patient group and in the separate subgroups: those receiving (21 patients) and those not receiving (50 patients) hypolipidemic treatment.Results.For the entire group of patients a statistically significant decrease in TC was noted (levels before treatment 220 ± 41 mg/dl, and at 5 yrs 206 ± 32 mg/dl, p = 0.006). A statistically significant difference was observed in the levels of HDL (57 ± 14 mg/dl vs 67 ± 17 mg/dl, p < 0.001) and in atherogenic index (4.0 ± 1.3 vs 3.3 ± 0.9, p < 0.001). Patients not receiving a hypolipidemic agent during the same period demonstrated a decrease in TC (214 ± 40 mg/dl vs 208 ± 34 mg/dl, p = 0.049), an increase in HDL levels (55 ± 15 mg/dl vs 67 ± 18 mg/dl, p < 0.001), and a decrease in atherogenic index (4.0 ± 1.4 vs 3.3 ± 0.9, p < 0.001). In the subgroup of patients receiving hypolipidemic treatment, the respective changes in their lipid profile were not significant in the first years but became significant in the long term.Conclusion.Use of HCQ in patients with SS was related to a statistically significant decrease in TC, an increase in HDL, and improvement in the atherogenic index.

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ASSOCIATION BETWEEN BLOOD LIPID PROFILE AND BLOOD GLUCOSE LEVELS IN MEN WITH CORONARY HEART DISEASE, METABOLIC SYNDROME, AND TYPE 2 DIABETES MELLITUS

CARDIOVASCULAR THERAPY AND PREVENTION ◽

10.15829/1728-8800-2013-5-29-33 ◽

2013 ◽

Vol 12 (5) ◽

pp. 29-33

Author(s):

S. A. Matveeva

Keyword(s):

Blood Glucose ◽

Lipid Profile ◽

Low Density Lipoprotein ◽

Fasting Blood Glucose ◽

Density Lipoprotein ◽

Blood Lipid ◽

Lipoprotein Cholesterol ◽

Blood Lipid Profile ◽

Glucose Levels ◽

Blood Glucose Levels

Aim.To study the associations between blood lipid profile and blood glucose levels in men with coronary heart disease (CHD), stable effort angina (SEA), metabolic syndrome (MS), and Type 2 diabetes mellitus (DM-2).Material and methods.The study included 82 men (mean age 50,5±0,9 years) with CHD, Functional Class I–III SEA, MS, and DM-2. The following lipid profile parameters were assessed: total cholesterol (TCH), triglycerides (TG), low-density lipoprotein cholesterol (LDL–CH), very low-density lipoprotein cholesterol (VLDL–CH), high-density lipoprotein cholesterol (HDL–CH), atherogenic index (AI), and triglyceride index (TGI), together with fasting blood glucose.Results.There were positive (direct) associations between higher levels (>90th percentile) of lipid profile parameters (TCH, TG, LDL–CH, VLDL– CH, HDL–CH, AI, TGI) and blood glucose, as well as between lower levels (≤10th percentile) of lipid profile parameters (TCH, TG, LDL–CH, VLDL– CH, AI, TGI) and blood glucose. At the same time, there were negative (inverse) associations between lower lipid levels (≤10th percentile of TCH, TG, LDL–CH, VLDL–CH, HDL–CH, AI, TGI) and higher glucose levels (>90th percentile), as well as between higher lipid levels (>90th percentile of TCH, TG, LDL–CH, VLDL–CH, HDL–CH, AI, TGI) and lower glucose levels (≤10th percentile).Conclusion.Dyslipidemia and hyperglycemia demonstrate synergetic proatherogenic effects in patients with CHD, SEA, MS, and DM-2, as suggested by significant heterogeneous (direct and inverse) associations between lipid profile parameters and fasting blood glucose. The results obtained provide an opportunity for the assessment of risk levels, prognosis, and need for pharmacological prevention and treatment in patients with combined cardiovascular pathology.

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Study of gallbladder lesions and its relationship with serum lipid profile

International Journal of Advances in Medicine ◽

10.18203/2349-3933.ijam20183902 ◽

2018 ◽

Vol 5 (5) ◽

pp. 1245

Author(s):

Sushama Bhatta ◽

Samir Singh

Keyword(s):

Lipid Profile ◽

Serum Lipid ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Chronic Cholecystitis ◽

Lipoprotein Cholesterol ◽

Serum Lipid Profile ◽

P Value ◽

Low Density Lipoprotein Cholesterol ◽

Histopathological Lesion

Background: Gallbladder disease is one of the most common gastrointestinal diseases. Various studies have shown association between gallstone and alteration in serum lipids. The objective of this study was to evaluate histological patterns of cholecystectomy specimens and compare serum lipid profile of gallstone patients with controls.Methods: This study was conducted over a period of two years (April 2016 to April 2018). Records of 287 specimens who underwent cholecystectomy were analysed in which gallstones were found only in 186 patients. Out of 186 patients with gallstones, records of serum lipid profile were available in 32 patients which were compared with 32 control of similar age. Independent t- test was used to compare the data between cases and control.Results: Out of 287 cases, 68 were male and 219 were female with male to female ratio of 1:3.2. The predominant histopathological lesion was chronic cholecystitis (73.17%). Malignancy was observed in 0.7% cases. Serum total cholesterol, triglycerides and low density lipoprotein cholesterol were found to be higher and statistically significant in patients with gallstone compared to controls (p value 0.024, <0.001and 0.016 respectively). Serum High density lipoprotein cholesterol was lower in gallstone patient than in control but not statistically significant (p value 0.23).Conclusions: Chronic cholecystitis was the most common histopathological lesion. Serum total cholesterol, triglyceride and low density lipoprotein cholesterol level were elevated and statistically significant in patients with gallstone.

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Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio

Clinical Chemistry and Laboratory Medicine (CCLM) ◽

10.1515/cclm-2018-1037 ◽

2019 ◽

Vol 57 (7) ◽

pp. 1102-1110 ◽

Cited By ~ 3

Author(s):

Maria Donata Di Taranto ◽

Renato de Falco ◽

Ornella Guardamagna ◽

Giulia Massini ◽

Carola Giacobbe ◽

...

Keyword(s):

Lipid Profile ◽

Familial Hypercholesterolemia ◽

Pediatric Population ◽

Genetic Disorder ◽

Genetic Diagnosis ◽

Density Lipoprotein ◽

Compound Heterozygous ◽

Premature Coronary Artery Disease ◽

Degree Relative ◽

Genetic Status

Abstract Background Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in genes involved in low-density lipoprotein (LDL) uptake (LDLR, APOB and PCSK9). Genetic diagnosis is particularly useful in asymptomatic children allowing for the detection of definite FH patients. Furthermore, defining their genetic status may be of considerable importance as the compound heterozygous status is much more severe than the heterozygous one. Our study aims at depicting the genetic background of an Italian pediatric population with FH focusing on the correlation between lipid profile and genetic status. Methods Out of 196 patients with clinically suspected FH (LDL-cholesterol [LDL-C] levels above 3.37 mmol/L, cholesterol level above 6.46 mmol/L in a first-degree relative or the presence of premature cardiovascular acute disease in a first/second-degree relative), we screened 164 index cases for mutations in the LDLR, APOB and PCSK9 genes. Results Patients with mutations (129/164) showed increased levels of LDL-C, 95th percentile-adjusted LDL-C and LDL/high-density lipoprotein (HDL) ratio and decreased levels of HDL-C, adjusted HDL-C. The association of the LDL/HDL ratio with the presence of mutations was assessed independently of age, (body mass index) BMI, parental hypercholesterolemia, premature coronary artery disease (CAD), triglycerides by multivariate logistic regression (odds ratio [OR]=1.701 [1.103–2.621], p=0.016). The LDL/HDL ratio gradually increased from patients without mutations to patients with missense mutations, null mutations and compound heterozygotes. Conclusions In conclusion, the LDL/HDL ratio proved to be a better parameter than LDL-C for discriminating patients with from patients without mutations across different genetic statuses.

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Real-world use of PCSK9 inhibitors: A single-center experience

Journal of International Medical Research ◽

10.1177/0300060518800595 ◽

2018 ◽

Vol 47 (1) ◽

pp. 265-270 ◽

Cited By ~ 1

Author(s):

Sinan Sarsam ◽

Abeer Berry ◽

George Degheim ◽

Robby Singh ◽

Marcel Zughaib

Keyword(s):

Cardiovascular Disease ◽

Lipid Profile ◽

Real World ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Lipoprotein Cholesterol ◽

Atherosclerotic Cardiovascular Disease ◽

Pcsk9 Inhibitors ◽

Pcsk9 Inhibitor ◽

The Impact

Objective Hyperlipidemia is an important risk factor for atherosclerotic cardiovascular disease. Many patients are intolerant to or have limited benefit from statins. Proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitors have been approved for treating hyperlipidemia in these patients. We sought to investigate the impact of these medications in a real-world cardiology practice. Methods This was a retrospective study of 17 patients with either heterozygous familial hypercholesterolemia or established atherosclerotic cardiovascular disease with low-density lipoprotein cholesterol (LDL-C) levels above the treatment target despite maximally tolerated statins. Baseline lipid profile was compared with a repeat lipid profile obtained 4 to 6 weeks after initiating treatment with a PCSK9 inhibitor. Results The average duration of PCSK9 inhibitor treatment was 10.7 months. Lipid profile comparison showed that total cholesterol decreased from 243 ± 72 to 148 ± 39 (mg/dL) (39% reduction), triglycerides decreased from 185 ± 86 to 149 ± 62 (mg/dL) (19.5% reduction), high-density lipoprotein cholesterol increased from 56 ± 20 to 62 ± 26 (mg/dL) (10.7% increase), and LDL-C decreased from 154 ± 30 to 57 ± 32 (mg/dL) (63% reduction) from baseline. Conclusions PCSK9 inhibitors as add-on therapy to maximally tolerated statins resulted in an approximately 63% reduction in LDL-C.

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Alterations in Lipids and Adipocyte Hormones in Female-to-Male Transsexuals

International Journal of Endocrinology ◽

10.1155/2010/945053 ◽

2010 ◽

Vol 2010 ◽

pp. 1-4 ◽

Cited By ~ 11

Author(s):

Prakash Chandra ◽

Sukhdeep S. Basra ◽

Tai C. Chen ◽

Vin Tangpricha

Keyword(s):

Lipid Profile ◽

Total Cholesterol ◽

Statistical Significance ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Lipoprotein Cholesterol ◽

Testosterone Therapy ◽

Serum Leptin ◽

Atherogenic Lipid Profile

Testosterone therapy in men and women results in decreased high-density lipoprotein cholesterol (HDL) and increased low-density lipoprotein cholesterol (LDL). We sought to determine whether testosterone therapy has this same effect on lipid parameters and adipocyte hormones in female-to-male (FTM) transsexuals. Twelve FTM transsexuals provided a fasting lipid profile including serum total cholesterol, HDL, LDL, and triglycerides prior to and after 1 year of testosterone therapy (testosterone enanthate or cypionate 50–125 mg IM every two weeks). Subjects experienced a significant decrease in mean serum HDL (52±11to40±7 mg/dL)(P<.001). The mean LDL(P=.316), triglyceride(P=.910), and total cholesterol(P=.769)levels remained unchanged. In a subset of subjects, we measured serum leptin levels which were reduced by 25% but did not reach statistical significance(P=.181)while resistin levels remained unchanged. We conclude that testosterone therapy in FTM transsexuals can promote an increased atherogenic lipid profile by lowering HDL and possibly reduce serum leptin levels. However, long-term studies are needed to determine whether decreases in HDL result in adverse cardiovascular outcomes.

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Lipid Profile in Tuberculosis Patients with and without Human Immunodeficiency Virus Infection

International Journal of Chronic Diseases ◽

10.1155/2017/3843291 ◽

2017 ◽

Vol 2017 ◽

pp. 1-7 ◽

Cited By ~ 2

Author(s):

Gebremedhin Gebremicael ◽

Yemane Amare ◽

Feyissa Challa ◽

Atsbeha Gebreegziabxier ◽

Girmay Medhin ◽

...

Keyword(s):

Lipid Profile ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Lipid Profiles ◽

Lipoprotein Cholesterol ◽

Tb Treatment ◽

Immunodeficiency Virus ◽

Study Participants ◽

Concentration Levels ◽

Hiv Negative

Background. Understanding whether the preceding low lipid profile leads to active tuberculosis (TB) or active TB leads to low lipid profile is crucial.Methods. Lipid profile concentrations were determined from 159 study participants composed of 93 active TB patients [44 HIV coinfected (HIV+TB+) and 49 HIV negative (HIV−TB+)], 41 tuberculin skin test (TST) positive cases [17 HIV coinfected (HIV+TST+) and 24 HIV negative (HIV−TST+)], and 25 healthy controls (HIV−TST−). Cobas Integra 400 Plus was used to determine lipid profiles concentration level.Results. The concentrations of total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C) in HIV−TB+ patients were significantly lower compared to HIV−TST+ and to HIV−TST− individuals. Similarly, the concentrations of the TC, LDL-C, and HDL-C in HIV+TB+ were significantly lower compared to HIV−TB+ patients. After the 6 months of anti-TB treatment (ATT), the concentration levels of TC, LDL-C, and HDL-C in HIV−TB+ patients were higher compared to the baseline concentration levels, while they were not significantly different compared to that of HIV−TST+ concentration.Conclusion. The low concentration of lipid profiles in TB patients may be a consequence of the disease and significantly increased in TB patients after treatment.

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Variability of lipid and lipoprotein concentrations during puberty in Brazilian boys

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2013-0450 ◽

2015 ◽

Vol 28 (1-2) ◽

Cited By ~ 3

Author(s):

Luis Paulo Gomes Mascarenhas ◽

Neiva Leite ◽

Ana Cláudia C. Kapp Titski ◽

Lilian Messias Sampaio Brito ◽

Margaret C.S. Boguszewski

Keyword(s):

Lipid Profile ◽

Low Density Lipoprotein ◽

Density Lipoprotein ◽

Lipoprotein Cholesterol ◽

Low Density ◽

Physiological Changes ◽

Maturation Process ◽

Enzymatic Method ◽

Low Density Lipoprotein Cholesterol ◽

Male Adolescents

AbstractEvaluation of lipid profile in children and adolescents is important for early diagnosis of dyslipidemias. Physiological changes might be observed in the concentration of the lipid profile components, according to the stage of sexual maturation.To evaluate the variation in lipid and lipoprotein concentrations in boys during puberty.The sample consisted of 570 male adolescents with ages between 10 and 17 years. Weight, height, and body mass index (BMI) were assessed. Total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), and triglyceride (TG) were determined by the enzymatic method, and low-density lipoprotein cholesterol (LDL-C) was calculated. Puberty was classified according to Tanner references. The percentile criterion was adopted for the distribution and identification of lipoprotein levels. The analysis of variance and description tests with p<0.05 was applied.Participants had similar BMILipid and lipoprotein concentrations tend to undergo changes during puberty in boys. The use of percentile values can be very useful to track variations in lipid and lipoprotein levels during the maturation process.

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