Chylomicronemia and the chylomicronemia syndrome: a practical approach to management

Chylomicronemia is present when triglyceride levels exceed 1000 mg/dL. Chylomicronemia, when accompanied by eruptive xanthoma, lipemia retinalis, or abdominal symptoms, is referred to as the “chylomicronemia syndrome” and can cause acute pancreatitis. Treatment aimed at reducing triglyceride levels includes lifestyle modifications to promote weight loss with diet and physical activity coupled with medications, including fibrates, n-3 polyunsaturated fatty acids, and nicotinic acid. Chylomicronemic patients with acute pancreatitis require insulinization in an inpatient setting to abolish chylomicronemia.     

Therapeutic Plasma Exchange in Patients with Chylomicronemia Syndrome Complicated by Acute Pancreatitis

Chylomicronemia syndrome (CMS) is a rare disorder characterized by the presence of chylomicrons in the fasting state causing a milky appearance of plasma, eruptive xanthomas, and hepatosplenomegaly; an acute and potentially life threatening complication is severe acute pancreatitis. The underlying defects are inborn errors of metabolism such as deficiencies of lipoprotein lipase (LPL) or apoprotein C-II (apo C-II) as well as familial hypertriglyceridemia. Moreover, CMS can be precipitated when mild hypertriglyceridemia is exacerbated by additional factors such diabetes mellitus, ethanol abuse, or pregnancy. The purpose of the present study was to retrospectively analyze the results of therapeutic plasma exchange (TPE) in 5 patients transferred to our hospital for severe acute pancreatitis due to chylomicronemia syndrome. In a total of 7 TPE sessions, on average 3,286 ± 247 ml of plasma (i.e., about 1 patient plasma volume) were treated per session. Triglyceride (TG) levels were decreased from 4,972 ± 2,469 mg/dl on admission to 1,614 ± 1,276 mg/dl (?70%) after the TPE sessions, and a further decrease was achieved by conservative treatment. Part of the TG reducing effect of the treatment was probably due to heparin induced lipolysis. Acute pancreatitis was resolved in all cases, and 1 pregnant patient delivered without problems at term. In summary, 1 or 2 TPE sessions sufficed to substantially decrease the bulk of triglycerides in acutely exacerbated chylomicronemia syndrome causing a rapid resolution of acute severe pancreatitis.     

Current trends in acute pancreatitis: Diagnostic and therapeutic challenges

Acute pancreatitis(AP) is an inflammatory disease of the pancreas,which can progress to severe AP,with a high risk of death.It is one of the most complicated and clinically challenging of all disorders affecting the abdomen.The main causes of AP are gallstone migration and alcohol abuse.Other causes are uncommon,controversial and insufficiently explained.The disease is primarily characterized by inappropriate activation of trypsinogen,infiltration of inflammatory cells,and destruction of secreto...     

急性复发性胰腺炎的病因及其诊断

近年我国急性胰腺炎（AP）的发病率呈上升趋势,急性复发性胰腺炎（ARP）是AP的特殊临床类型,其确切病因尚不清楚,相关研究报道还较少。ARP更易进展为重症AP,目前对ARP的病因及其诊断尚缺乏共识。本文就此作一综述,以期提高临床医师对本病的重视。     

急性胰腺炎的早期诊断和处理

近年急性胰腺炎(AP)的发病率逐渐升高,重症急性胰腺炎并发多器官功能衰竭死亡率极高。本文对与AP的早期诊断、严重度分级、早期治疗(包括积极的液体复苏和病因治疗)以及后期并发症的预防和治疗等相关的指南、共识和研究进展作一概述。     

Diagnosis of atopic dermatitis in children: comparison of the Hanifin-Rajka and the United Kingdom Working Party criteria

BackgroundAtopic dermatitis (AD) is the most common chronic skin disease in childhood. There is no definitive test for diagnosing AD. The Hanifin-Rajka criteria (HRC) and The United Kingdom Working Party criteria (UKC) are the most used in the literature. It is aimed to evaluate the clinical efficacy of HRC and UKC in pediatric age.MethodsChildren diagnosed AD in the pediatric allergy clinic were enrolled. Patients with skin problems other than AD were involved as controls. All participants were evaluated for HRC and UKC at the time of diagnosis. Clinical diagnosis by the pediatric allergist was determined as the gold standard.Results200 children with AD and 90 controls were enrolled in the study. Median (interquartile range, IQR) age of AD patients was 13.5 (7–36) months. There was no significant difference in age and sex between groups (p = 0.11 and p = 0.34, respectively). The HRC were superior to the UKC for sensitivity, negative predictive value, kappa and accuracy rate (94% vs. 72%, 84% vs. 60%, 0.68 vs. 0.56 and 87 vs. 78, respectively). On the other hand, specificity and positive predictive value of UKC were better than those of HRC (92% vs. 71% and 95% vs. 88%, respectively).ConclusionHRC seem to be better in diagnosing AD than UKC for young children. Further studies are needed to evaluate comparableness of HRC and UKC for AD in childhood in order to generate an international consensus for clinical trials.     

Diagnosis of asbestosis

Forty-two patients diagnosed as having asbestosis were examined. Bilateral crackles were heard in 64% of subjects and finger clubbing was observed in 42%. Chest films were normal in two patients with proven fibrosis. FVC was below 80% in 42% of patients and DLCO in 78%. The lung function profile of each subject was classified according to two methods. Restrictive patterns were the most frequent, but obstructive and mixed profiles were not rare. The distribution of five diagnostic criteria (1/1 or more in radiographs, bilateral crackles, finger clubbing, FVC and DLCO less than 80%) was as follows: two subjects had one criterion (low FVC or DLCO) and in both of them the diagnosis was made by lung biopsy. Nine subjects had two criteria; twelve had three; fifteen had four and four had five. If the diagnosis had been established according to Murphy et al. (at least three of the following: bilateral crackles, radiographs 2/1 or more, FVC and DLCO less than 80% predicted), only 18 patients would have been diagnosed. Supported in part by grant from Instituto Nacional de la Salud (INSALUD), Spain     

Current Diagnosis and Management of Abetalipoproteinemia

Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the MTTP gene. Deficiency of microsomal triglyceride transfer protein (MTTP) abrogates the assembly of apolipoprotein (apo) B-containing lipoprotein in the intestine and liver, resulting in malabsorption of fat and fat-soluble vitamins and severe hypolipidemia. Patients with ABL typically manifest steatorrhea, vomiting, and failure to thrive in infancy. The deficiency of fat-soluble vitamins progressively develops into a variety of symptoms later in life, including hematological (acanthocytosis, anemia, bleeding tendency, etc.), neuromuscular (spinocerebellar ataxia, peripheral neuropathy, myopathy, etc.), and ophthalmological symptoms (e.g., retinitis pigmentosa). If left untreated, the disease can be debilitating and even lethal by the third decade of life due to the development of severe complications, such as blindness, neuromyopathy, and respiratory failure. High dose vitamin supplementation is the mainstay for treatment and may prevent, delay, or alleviate the complications and improve the prognosis, enabling some patients to live to the eighth decade of life. However, it cannot fully prevent or restore impaired function. Novel therapeutic modalities that improve quality of life and prognosis are awaited. The aim of this review is to 1) summarize the pathogenesis, clinical signs and symptoms, diagnosis, and management of ABL, and 2) propose diagnostic criteria that define eligibility to receive financial support from the Japanese government for patients with ABL as a rare and intractable disease. In addition, our diagnostic criteria and the entry criterion of low-density lipoprotein cholesterol (LDL-C) ＜15 mg/dL and apoB ＜15 mg/dL can be useful in universal or opportunistic screening for the disease. Registry research on ABL is currently ongoing to better understand the disease burden and unmet needs of this life-threatening disease with few therapeutic options.     

The use and abuse of diagnostic/classification criteria

In rheumatic diseases, classification criteria have been developed to identify well-defined homogenous cohorts for clinical research. Although they are commonly used in clinical practice, their use may not be appropriate for routine diagnostic clinical care. Classification criteria are being revised with improved methodology and further understanding of disease pathophysiology, but they still may not encompass all unique clinical situations to be applied for diagnosis of heterogenous, rare, evolving rheumatic diseases. Diagnostic criteria development is challenging primarily due to difficulty for universal application given significant differences in the prevalence of rheumatic diseases based on geographical area and clinic settings. Despite these shortcomings, the clinician can still use classification criteria for understanding the disease as well as a guide for diagnosis with a few caveats. We present the limits of current classification criteria, their use and abuse in clinical practice, and how they should be used with caution when applied in clinics.     

快速尿胰蛋白酶原-2检测筛选急性胰腺炎的临床评估

SA法检测尿胰蛋白酶原-2相关性分析κ=0.92,表明相关性很好.血清和尿液淀粉酶诊断AP的敏感性分别为65%和49%,特异性均为95%.结论 尿胰蛋白酶原-2试纸条法检测诊断.AP快速、方便、敏感性高、费用低,值得在急诊室急腹症患者AP筛选中推广应用.     

ADA及WHO糖尿病诊断标准在中国人中检出率的变化及迁移

目的　比较美国糖尿病协会１９９７年修订的糖尿病诊断标准［ＡＤＡ（１９９７）］和世界卫生组织糖尿病诊断标准［ＷＨＯ（１９８０～１９８５）］在中国人中检出率的变化及迁移。方法　对９０６例研究对象实施７５ｇ 口服葡萄糖耐量试验（ＯＧＴＴ）。结果　ＡＤＡ（１９９７）空腹血糖（ＦＰＧ）标准较ＷＨＯ（１９８０～１９８５）标准敏感性提高１１．１５％ ,并使近１／５的糖尿病（ＤＭ）患者可免于ＯＧＴＴ而被确诊,但仍有近半数经ＷＨＯ（１９８０～１９８５）标准诊断的ＤＭ 患者被ＡＤＡ（１９９７）ＦＰＧ标准诊断为空腹血糖损害（ＩＦＧ）或正常空腹血糖者（ＮＦＧ）。结论　对用ＡＤＡ（１９９７）ＦＰＧ标准诊断为ＩＦＧ及ＮＦＧ,尤其是存在糖尿病高危因素者,有必要进行ＯＧＴＴ２小时血糖核查,以避免漏诊     

原发性胆汁性肝硬化的诊断和治疗

原发性胆汁性肝硬化（PBC）是一种慢性肝内胆汁淤积性疾病,血清抗线粒体抗体（AMA）是诊断PBC的特异性指标,熊去氧胆酸（UDCA）是惟一经随机对照临床试验证实的治疗PBC安全有效的药物。尽管PBC的发病机制可能与自身免疫有关,但免疫抑制剂的疗效仍未被证实,且药物相关不良反应明显,使其临床应用受到限制。PBC的病情呈进行性,最终可导致肝硬化肝功能衰竭,肝移植是治疗终末期PBC患者惟一有效的方法。     

Recent Advances in the Diagnosis and Management of Autoimmune Pancreatitis: Similarities and Differences in Japan and Korea

Two subtypes (types 1 and 2) of autoimmune pancreatitis (AIP) are currently recognized. Type 1 AIP is related to immunoglobulin G4 (lymphoplasmacytic sclerosing pancreatitis), and type 2 AIP is characterized by neutrophilic infiltration into the epithelium of the pancreatic duct (idiopathic duct-centric pancreatitis). Although type 2 AIP is sometimes observed in the United States and Europe, most cases of AIP in Japan and Korea are type 1. The international consensus diagnostic criteria for AIP were created to be applicable worldwide and to distinguish between the two types of AIP. AIP is diagnosed based on the presence of at least one of the five cardinal features (i.e., imaging, serology, other organ involvement, histology, and response to steroid therapy). Oral steroids are the standard therapy for AIP, but immunomodulatory drugs or rituximab have been successfully used for patients with relapsed AIP in the United States and Europe. Generally, the clinical manifestations and demography of AIP are similar between Japan and Korea. However, there are differences in some aspects of the disease, including the proportion of other organ involvement, the prevalence of type 2 AIP, diagnostic criteria and maintenance therapy between the two countries.     

Current Diagnosis and Management of Tangier Disease

Tangier disease is a genetic disorder characterized by an absence or extremely low level of high-density lipoprotein (HDL)-cholesterol (HDL-C). It is caused by a dysfunctional mutation of the ATP-binding cassette transporter A1 ( ABCA1 ) gene, the mandatory gene for generation of HDL particles from cellular cholesterol and phospholipids, and it appears in an autosomal recessive hereditary profile. To date, 35 cases have been reported in Japan and 109 cases outside Japan. With dysfunctional mutations in both alleles (homozygotes or compound heterozygotes), the HDL-C level is mostly less than 5 mg/dL and there is 10 mg/dL or less of apolipoprotein A-I (apoA-I), the major protein component of HDL. In patients with Tangier disease, major physical findings are orange-colored pharyngeal tonsils, hepatosplenomegaly, corneal opacity, lymphadenopathy, and peripheral neuropathy. Although patients tend to have decreased low-density lipoprotein (LDL)-cholesterol (LDL-C) levels, premature coronary artery disease is frequently observed. No specific curative treatment is currently available, so early identification of patients and preventing atherosclerosis development are crucial. Management of risk factors other than low HDL-C is also important, such as LDL-C levels, hypertension and smoking. Additionally, treatment for glucose intolerance might be required because impaired insulin secretion from pancreatic beta cells has occasionally been reported.     

The Impact of Nontuberculous Myobacteria on Management of Presumed Pulmonary Tuberculosis

Background: The presence of nontuberculous mycobacteria (NTM) in sputum or bronchial washings may cause diagnostic problems which affect clinical management. Patients and Methods: In a retrospective analysis of 135 patients in a Dutch tuberculosis center, patients with NTM isolates were thoroughly investigated. Colonization or contamination by NTM was differentiated from true lung disease. Results: 25 HIV-seronegative and two HIV-seropositive patients with NTM were identified. NTM were a likely cause of disease in only 14 (52%) patients. In 15 (55%), their presence led to preliminary diagnosis and treatment of tuberculosis. Unnecessary or inappropriate treatment was instituted in 17 (63%) patients with NTM. In two patients, detection of NTM in sputum also led to delay in diagnosing malignant disease. Conclusion: In this series, NTM in sputum or bronchial washings poorly reflected disease and often led to diagnostic and therapeutic errors. Although it is common knowledge that the presence of NTM should be considered in smear-positive patients, this apparently is a diagnostic pitfall in clinical practice. Reliable DNA-based techniques and better communication between physicians and microbiologists may improve management of suspected mycobacterial infections. Received: July 20 · Revision accepted: December 21, 2000     

抗磷脂综合征诊治新进展

抗磷脂综合征是由抗磷脂抗体引起的一种自身免疫性疾病,临床上以动、静脉血栓形成、反复妊娠失败、血小板减少为主要表现,2006年公布了抗磷脂综合征的修订标准,现对抗磷脂综合征的诊治进展作一综述。     

Clinical Practice Guidelines for the Endoscopic Management of Peripancreatic Fluid Collections

Endoscopic ultrasonography-guided intervention has gradually become a standard treatment for peripancreatic fluid collections (PFCs). However, it is difficult to popularize the procedure in Korea because of restrictions on insurance claims regarding the use of endoscopic accessories, as well as the lack of standardized Korean clinical practice guidelines. The Korean Society of Gastrointestinal Endoscopy appointed a Task Force to develop medical guidelines by referring to the manual for clinical practice guidelines development prepared by the National Evidence-Based Healthcare Collaborating Agency. Previous studies on PFCs were searched, and certain studies were selected with the help of experts. Then, a set of key questions was selected, and treatment guidelines were systematically reviewed. Answers to these questions and recommendations were selected via peer review. This guideline discusses endoscopic management of PFCs and makes recommendations on Indications for the procedure, pre-procedural preparations, optimal approach for drainage, procedural considerations (e.g., types of stent, advantages and disadvantages of plastic and metal stents, and accessories), adverse events of endoscopic intervention, and procedural quality issues. This guideline was reviewed by external experts and suggests best practices recommended based on the evidence available at the time of preparation. This will be revised as necessary to address advances and changes in technology and evidence obtained in clinical practice and future studies. (Gut Liver 2021;15:-693)