Familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels and increased cardiovascular disease (CVD) risk. FH patients often have increased ...lipoprotein(a) Lp(a) levels, which further increase CVD risk. Novel methods for accurately calculating LDL-C have been proposed.
Patients with FH were recruited by a network of Greek sites participating in the HELLAS-FH registry. LDL-C levels were calculated using the Friedewald (LDL-C
) and the Martin/Hopkins (LDL-C
) equations as well as after correcting LDL-C
for Lp(a) levels LDL-C
. The objective was to compare LDL-C levels and target achievement as estimated by different methods in FH patients.
This analysis included 1620 patients (1423 adults and 197 children). In adults at diagnosis, LDL-C
and LDL-C
levels were similar 235 ± 70 mg/dL (6.1 ± 1.8 mmol/L) vs 235 ± 69 mg/dL (6.1 ± 1.8 mmol/L), respectively; P = NS, while LDL-C
levels were non-significantly lower than LDL-C
211 ± 61 mg/dL (5.5 ± 1.6 mmol/L); P = 0.432. In treated adults (n = 966) both LDL-C
150 ± 71 mg/dL (3.9 ± 1.8 mmol/L) and LDL-C
levels 151 ± 70 mg/dL (6.1 ± 1.8 mmol/L); P = 0.746 were similar, whereas LDL-C
levels were significantly lower than LDL-C
121 ± 62 mg/dL (3.1 ± 1.6 mmol/L); P < 0.001. Target achievement as per latest guidelines in treated patients using the LDL-C
(2.5%) and especially LDL-C
methods (10.7%) were significantly different than LDL-C
(2.9%; P < 0.001). In children, all 3 formulas resulted in similar LDL-C levels, both at diagnosis and in treated patients. However, target achievement by LDL-C
was lower compared with LDL-C
and LDL-C
methods (22.1 vs 24.8 vs 33.3%; P < 0.001 for both comparisons).
LDL-C
results in significantly lower values and higher target achievement rate in both treated adults and children. If validated in clinical trials, LDL-C
may become the method of choice to more accurately estimate 'true' LDL-C levels in FH patients.
Familial hypercholesterolemia (FH) carries a high risk of atherosclerotic cardiovascular disease (ASCVD). As the population ages, the age-related influence on clinical characteristics and outcomes ...becomes increasingly pertinent. This cross-sectional analysis from the HELLAS-FH registry aims to explore potential differences in clinical characteristics, treatment, ASCVD, and goal achievement between those younger and older than 65 years with FH.
A total of 2273 adults with heterozygous FH (51.4% males) were studied. Elderly FH patients (
= 349) had a higher prevalence of ASCVD risk factors, such as hypertension (52.1% vs. 20.9%,
< 0.05) and type 2 diabetes (16.9% vs. 6.0%,
< 0.05), compared to younger patients (
= 1924). They also had a higher prevalence of established ASCVD (38.4% vs. 23.1%,
< 0.001), particularly CAD (33.0% vs. 20.2%,
< 0.001), even after adjusting for major ASCVD risk factors. Elderly patients were more frequently and intensively receiving lipid-lowering treatment than younger ones. Although post-treatment LDL-C levels were lower in elderly than younger patients (125 vs. 146 mg/dL,
< 0.05), both groups had similar attainment of the LDL-C target (3.7% vs. 3.0%).
Elderly FH patients have a higher prevalence of ASCVD, particularly CAD. Despite more aggressive treatment, the achievement of LDL-C targets remains very poor. These results emphasize the importance of early FH diagnosis and treatment in reducing ASCVD.
A 5.5-month-old female infant with tuberous sclerosis complex presented with infantile spasms and was treated with vigabatrin. As her condition did not improve, she was given adrenocorticotropic ...hormone (ACTH) intramuscularly which stopped the spasms and improved the electroencephalogram (EEG) abnormalities. However, she developed encephalopathy with apathy, drowsiness, and generalized slowing in the EEG. Discontinuation of vigabatrin quickly improved her symptoms and reversed the EEG slowing. A high index of suspicion is required in order to diagnose vigabatrin-induced encephalopathy, especially as the underlying disorders of these patients can be erroneously considered the cause of the observed encephalopathy.
The oxidation of low-density lipoprotein (LDL; oxLDL) appears to play a key role in the early development of atherosclerosis. Increased serum antibodies against the oxLDL (anti-oxLDL antibodies) have ...been found in adults with atherosclerotic disease, as well as in healthy adults. The clinical significance and its precise role (atherogenic or atheroprotective), however, have not yet been clarified. This aim of this study was therefore to evaluate anti-oxLDL antibodies in healthy children and adolescents with and without hypercholesterolemia.
The study involved 312 subjects, aged 4-18 years, 141 with LDL cholesterol (LDL-C) ≥130 mg/dL and 171 with acceptable LDL-C (<110 mg/dL). Total anti-oxLDL antibodies, total cholesterol, LDL-C and high-density lipoprotein cholesterol, triglycerides, apolipoproteins A1 and B, lipoprotein (a) and high-sensitivity C-reactive protein were measured in fasting serum. The anti-oxLDL antibodies were measured on enzyme-linked immunosorbent assay.
Anti-oxLDL antibodies were similar in the hypercholesterolemia and non-hypercholesterolemia groups. Girls had significantly higher anti-oxLDL antibodies compared with boys. There was no significant correlation of antibodies with age or body mass index. Increased apolipoprotein B was an important factor for lower anti-oxLDL antibodies, while all other parameters had no significant association with anti-oxLDL antibodies.
In children and adolescents with hypercholesterolemia, total anti-oxLDL antibodies cannot serve as a marker for risk for atherosclerosis or for future cardiovascular disease.
Increased plasma Urotensin II (UII) levels have been found in adults with renal diseases. Studies in children are scarce. The objective of the study is to estimate plasma UII levels in subjects with ...chronic kidney disease (CKD) stages 3 to 5 and renal transplant recipients (RTR). In addition, the correlation of UII with anthropometric features and biochemical parameters was assessed.
Fifty-four subjects, aged 3 to 20 years old, 23 with CKD, 13 with end-stage kidney disease (ESKD) undergoing hemodialysis (HD) and 18 RTR were enrolled. A detailed clinical evaluation was performed. Biochemical parameters of renal and liver function were measured. Plasma UII levels were measured in all patients and in 117 healthy controls, using a high sensitive enzyme immunoassay (EIA) kit. All data were analyzed using STATA™ (Version 10.1).
Median UII and mean log-transformed UII levels were significantly higher in CKD and RTR patients compared to healthy subjects (p < 0.001). HD patients had higher but not statistically significant UII and log-UII levels than controls. UII levels increased significantly at the end of the HD session and were higher than controls and in line to those of other patients. The geometric scores of UII in HD (before dialysis), CKD and RTR patients increased respectively by 42, 136 and 164% in comparison with controls. Metabolic acidosis was associated with statistical significant change in log-UII levels (p = 0.001). Patients with metabolic acidosis had an increase in UII concentration by 76% compared to those without acidosis.
Children and adolescents with CKD, particularly those who are not on HD and RTR, have significantly higher levels of UII than healthy subjects. UII levels increase significantly at the end of the HD session. The presence of metabolic acidosis affects significantly plasma UII levels.
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