Carotid Artery Temperature Reduction with Statin Therapy in Patients with Familial Hyperlipidemia Syndromes

Background: Microwave radiometry (MWR) assesses non-invasive carotid artery temperatures reflecting inflammation. In the present study, we aimed to investigate the impact of hypolipidemic therapy either with simvastatin or with combination simvastatin plus ezetimibe on carotid artery temperatures of patients with familial hyperlipidemia syndromes (FHS). Methods: Consecutive patients with diagnosis of either familial heterozygous hypercholesterolemia (heFH) or familial combined hyperlipidemia (FCH) were included in the study. Patients were assigned to either simvastatin 40 mg or simvastatin 40 mg plus ezetimibe 10 mg, according to the discretion of the physician. FHS patients who refused statin therapy were used as a control group. Common carotid intima-media thickness (ccIMT) was measured and ΔΤ (maximum-minimum) temperature measurements were performed across each carotid during MWR evaluation. RESULTS: In total, 115 patients were included in the study. Of them, 40 patients received simvastatin (19 heFH and 21 FCH), 41 simvastatin + ezetimibe (31 heFH and 10 FCH), and 34 (21 heFH and 13 FCH) no statin. Carotid artery temperatures were significantly reduced at 6 months in FH patients who received hypolipidemic treatment (0.83 ± 0.34 versus 0.63 ± 0.24 oC, p = 0.004 for simvastatin, 1.00 ± 0.38 versus 0.69 ± 0.23 oC, p < 0.001 for simvastatin+ezetimibe), but no change was recorded in controls (0.72 ± 0.26 versus 0.70 ± 0.26 oC, p = 0.86). CONCLUSIONS: Hypolipidemic therapy reduced carotid temperatures in FHS patients.

Heterozygous Familial Hyperlipidemia in a Fighter Pilot

BACKGROUND: Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant disease characterized by elevated low-density lipoprotein cholesterol (LDL-C) that increases risk for clinically significant atherosclerotic cardiovascular disease (ASCVD). This common (1:220) disease is present within the fighter pilot community and hesitation to treat this condition at younger ages results in a higher risk for coronary artery disease (CAD), the presence of which can be catastrophic for flying safety. CASE REPORT: A 40-yr-old asymptomatic F-15 pilot presented with persistently elevated LDL-C levels > 190 mg dL1 and a significant family history of CAD. Coronary artery calcium, CT angiography, and finally, invasive angiography were used to further stratify him as having mild CAD. Initiation of statin therapy significantly lowered his LDL and subsequent risk for disease progression, allowing him to return to flying. DISCUSSION: Early recognition and treatment of HeFH is imperative for lowering the risk of ASCVD. Often the medical community supporting flyers is hesitant to diagnose or treat this condition, due to nonrecognition, the young age of presentation, or reluctance to potentially ground a flyer. By intervening earlier, rather than waiting, aviators can remain on flying status longer with lower risk to themselves and their aircrew. Gatzke LC. Heterozygous familial hyperlipidemia in a fighter pilot. Aerosp Med Hum Perform. 2021; 92(10):835837.

Measurement of the Cellular Hemoglobin Concentration by Laser Scatter Method from Excessive Lipemic Sample: CASE REPORT

A 33-month old female child presented at a pediatric clinic with acute tonsillitis, and it was subsequently discovered that she had familial hyperlipidemia. Measurement of the patient’s whole blood tests was performed by a multiparameter automated hematology analyzer, the CELLDYN Ruby System&#174; (Abbott, Lake Forest, USA) using venous blood extracted from a tube containing 3.0 mL of EDTA. Although her hematocrit levels were within normal limits, the hemoglobin (Hgb) level, mean corpuscular volume (MCH) and mean corpuscular Hgb concentration (MCHC) could not be determined using the spectrophotometric method. The results of these tests could not be measured when repeated using dilution. When the sample was left to rest for several minutes, it was observed to be excessively lipemic. The measurements were repeated using the Alinity HQ Analyzer&#174; (Abbott), which determines Hgb concentration using laser scatter and spectrophotometry. Hgb cellular concentration was incorrectly measured as being 21.9 mg/dL using routine spectrophotometry (denoted by a flag indicating Hgb interference) and correctly found to be 10.8 mg/dL. Thus, in samples of excessive lipemia, Hgb, MCH, and MCHC levels cannot be measured accurately using spectrophotometry. Hematology analyzers that can measure cellular hemoglobin (cHGB) and average erythrocyte hemoglobin concentration (cHCM) by laser scatter method may be recommended when analyzing a blood sample that contains excessive lipemia.

A clinical case of hypertrophic cardiomyopathy and family hyperlipidemia

Introduction of the next generation sequencing to the clinical practice made it possible to accurately diagnose a number of cardiac diseases, and to study accumulation of pathological variants of genes in families thus identifying individuals at risk of the disease much earlier. The authors present a patient with two genetically determined cardiological diseases familial hyperlipidemia and hypertrophic cardiomyopathy.

Chronic pancreatitis in children: treat like an adult?

A 15-year-old boy with a medical background of obesity, familial hyperlipidemia and acute recurrent pancreatitis, presented to emergency department reporting a 3-day course of periumbilical abdominal pain and nausea. Pain was noticed on epigastric palpation. Laboratory evaluation revealed leucocytosis, neutrophilia and pancreatic enzymes elevation more than three times the upper limit of normal. An acute recurrence of pancreatitis was diagnosed, was admitted to the hospital, being discharged after 5 days. Four days after, he was readmitted because of symptoms recurrence. Elevation of transaminases, gamma-glutamyltransferase (GGT) and direct bilirubin were noticed. Pancreatic enzymes still elevated but lower than in the previous episode. An endoscopic ultrasound revealed a Wirsung with a cephalic stricture and diffuse structural abnormalities suggestive of chronic pancreatitis. The patients was submitted to endotherapy with several sessions of endoscopic retrograde cholangiopancreatography including stenting and pancreatoscopy with marked clinical and imaging improvement. A genetic variant was identified.

False Negative D Vitamin Measurement in LC-MS/MS Method Due to Hyperlipidemia: Case Report

Background: Lipemia can influence laboratory test results by different mechanisms. Although the liquid chromatography–tandem mass spectrometry (LC-MS/MS) is considered the reference method for 25(OH)D3, some compounds (carbohydrate, lipids, proteins, etc.) in the blood may cause a false result indicating a negative or positive deviation rate from the correct blood level of the test. Case Report: In this paper, we report a case of D vitamin intoxication due to a false negative result caused by lipemia. A young woman with a complaint of pain in multiple joints applied to the physical therapy clinic and was found to have some cystic bone lesions. She was eventually diagnosed with DM tip 1, familial hyperlipidemia, and nephrolithiasis. Although she had D vitamin replacement therapy, low levels of blood 25(OH)D3 concentration, measured by an LC-MS/MS device, were detected. After blood dilution, a high level of 25(OH)D3 and blood intoxication due to lipid interference were indicated. Conclusion: From this case, we can conclude that analytical errors caused by the ingredients of a blood sample may lead to unnecessary treatment and intoxication. While evaluating the blood 25(OH)D3 levels, clinicians should guard against false-negative results due to interference in patients with familial hyperlipidemia.

Insulin resistance in children with familial hyperlipidemia

Background The aim of the study was to investigate whether there is insulin resistance in children with familial hyperlipidemia (FHL) and to determine the factors affecting insulin resistance. Methods Hyperlipidemic children aged between 4 and 18 years and followed up with an FHL diagnosis were included in the study. The children of adults followed up with an FHL diagnosis were also recruited after the screening period. The scanned children were divided into two groups as hyperlipidemic and normolipidemic. A total of 77 patients of whom 52 were hyperlipidemic and 25 were normolipidemic were assessed in the study. Insulin resistance was evaluated (homeostatic model assessment of insulin resistance [HOMA-IR]) by performing the oral glucose tolerance test (OGTT). Results Of the patients, 36 were male and 41 were female; the average age was 11.6±3.9 years, and the body mass index (BMI) was established to be 20.3±4.4. In hyperlipidemic and normolipidemic patients, the following were determined: fasting insulin: 10.6 (±0.89) μU/mL, 4.9 (±0.45) μU/mL (p=0.000); 2-h insulin: 28.7 (±12.7) μU/mL, 18.9 (±10.5) μU/mL (p=0.000); and HOMA-IR: 1.9 (±0.17), 0.86 (±0.7) (p=0.000). No relationship was identified between lipid profiles and insulin resistance. Nevertheless, there was a positive correlation between insulin resistance and apolipoprotein B (Apo B) levels (0.52), and a negative correlation was determined in carnitine levels (−0.64). Conclusions Insulin resistance was established to be higher in children with FHL compared to normolipidemic children. Insulin resistance was not related to lipid phenotypes, but to Apo B levels and carnitine levels. Insulin resistance should be a routine method of evaluation in the follow-up of children with FHL.