Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life

Non-alcoholic Fatty Liver Disease (NAFLD) in South Asia

BackgroundNon-alcoholic Fatty Liver Disease (NAFLD) is highly prevalent in the developed world. The prevalence has been increasing over the past few decades in parallel with an increase in the metabolic syndrome. South Asia hosts some of the most populated cities in the world and recent studies suggest the prevalence of NAFLD in some of these areas to be comparable to the western world. Earlier diagnosis should prompt life style modifications and the use of appropriate medications to prevent progression to hepatic fibrosisMethodsAll published articles in the MEDLINE database on NAFLD in South Asia were included. The important findings were summarized and critically analysed.ResultsNAFLD in South Asia is associated with obesity and insulin resistance. ‘Lean NAFLD’ is a new entity that describes low body mass index (BMI) individuals who develop NAFLD. Diagnosis of NAFLD is mainly using ultrasound scanning and Thromboelastography. The proven modalities of treatment include life style modifications and pharmacological agents.ConclusionNAFLD is an emerging problem in South Asia. Our review summarizes the key findings of studies on NAFLD from South Asia and discusses the important healthcare care delivery implications of these findings. Further studies on clinical manifestations, pathogenesis and disease progression of NAFLD in South Asia are needed to better manage this condition

A case report of dengue haemorrhagic fever complicated with psoas haematoma requiring blood transfusion

Abstract Background Dengue fever is a common infection with increasing numbers of patients affected. Muscle haematomas are a rare complication of dengue fever. In most cases haematomas resolve spontaneously. Case presentation We report a case of spontaneous psoas muscle haematoma, formed during the critical phase of dengue haemorrhagic fever. A 28-year-old gentleman presented with features of severe dengue and was admitted to the Dengue High Dependency Unit. He was treated with intravenous fluid therapy and supportive measures, and gradually improved initially. However, as the critical phase ended, he suddenly developed pain in the left groin and inguinal region and physical examination was normal. Ultrasound scan revealed a left psoas haematoma. As the patient deteriorated haemodynamically blood was transfused. He recovered without further complication and was discharged home. Conclusions Dengue fever is a common tropical infection. Recognizing serious complications such as psoas haematoma presenting as simple complaints such as back pain and inguinal pain are important to prevent mortality

Survey on knowledge of non-alcoholic fatty liver disease (NAFLD) among doctors in Sri Lanka: a multicenter study

Abstract Objectives There has been a global increase in the incidence and prevalence of NAFLD. We assessed the knowledge and awareness of NAFLD among gastroenterology doctors in three state sector hospitals. Results 80 medical officers and 58 post-graduate trainee doctors/consultants responded. 110 (79.7%) considered NAFLD a major health problem whilst 97 (70.3%) thought the prevalence of NAFLD was 10–40%. 52.9% saw 12–24 patients with NAFLD/year. A vast majority knew the risk factors for NAFLD: 127 (92.7%) diabetes mellitus, 135 (97.8%) Obesity, 132 (95.7%) Dyslipidemia and 87 (63%) PCOS. The methods for diagnosis were recognized by: USS 132 (95.7%), MRI 34 (24.6%), transient elastography 23 (16.7%) and liver biopsy 88 (63.8%) while, 53 (38.4%) recognized the non-invasive methods available for diagnosis. The trends in referral were lower than expected: 85 (61.6%) refer to a Gastroenterologist/Physician, 53 (38.4%) to a Gym, 67 (48.6%) to a weight loss clinic and 45 (32.6%) to a dietician. Significantly more postgraduate trainee doctors: recognized the availability of non-invasive investigations for NAFLD (P = 0.01) and read guidelines on NAFLD (P = 0.02) compared to non-trainee doctors. As a whole, a majority (57.2%) had not attended a lecture or read a guideline on NAFLD. The barriers for management included: lack of confidence 70 (50.7%) and time constraints 58 (42%)

A Descriptive Study on Sepsis: Causes, Outcomes, and Adherence to Guidelines on Patients with Sepsis at a Tertiary Care Hospital in Sri Lanka

The global incidence of sepsis is increasing, and mortality remains high. The mortality is even higher in resource-poor countries where facilities and equipment are limited. The Surviving Sepsis Campaign (SSC) recommends an updated hour-1 bundle based on the evidence from the International Guidelines for Management of Sepsis and Septic Shock 2018. To reduce mortality from sepsis, compliance with the “bundle” is essential. Data from developing countries like Sri Lanka on the management of sepsis according to the SSC guidelines are not available. Hence, this study looks at the patient characteristics and management of septic patients at a tertiary care hospital in Sri Lanka. Patients admitted to the University Medical Unit of Colombo South Teaching Hospital from January to August 2019 fulfilling the inclusion criteria were included. The hour-1 sepsis bundle adherence, demographic data, and management were recorded. There were 387 patients: 163 males and 224 females. The age range was 15-95 with a mean age of 63. 83.7% were direct admissions while 16.3% were transfers from a peripheral hospital. The most common source of infection was urine (82 (21.2%)) followed by blood stream (105 (27.1%)) and skin and soft tissue (114 (29.5%)). One-hour SSC bundle compliance is as follows: administration of intravenous fluids: 42 (10.9%), blood cultures before antibiotics: 225 (58.1%), first dose antibiotic: 15 (3.9%), and arterial blood gas: 60 (15.5%). Staffing capacity did not make a difference to adherence to the bundle. The study mortality rate was 37 (9.6%). Binary logistic regression indicates that quick sequential organ failure assessment (qSOFA) score is a significant predictor of mortality (chi‐square=35.08, df=3, and p=0.001 (<0.05)) with an odds ratio (OR) of 7.529 (95% CI 3.597-14.323). The other predictors, age, sex, adherence to sepsis care bundle, and comorbidities, were not significant. In conclusion, mortality of sepsis is high and adherence to sepsis care bundle is poor in Sri Lanka even at a tertiary care hospital. Education and training of staff are needed to boost adherence. This will in turn improve quality of care and outcomes of septic patients in resource-poor countries

Acute on chronic bilateral subdural hematoma presenting with acute complete flaccid paraplegia and urinary retention mimicking an acute spinal cord injury: a case report

Abstract Background A subdural hematoma refers to a collection of blood between the dura and the arachnoid membranes and is classified into acute, sub acute and chronic. Subdural hematoma has been referred to as the “great neurologic imitator” as it can mimic many neurological conditions. Case presentation Forty-three year old Sri Lankan female presented 2 weeks following traumatic head injury with bilateral flaccid complete paraplegia and urinary retention. Her non-contrast computer tomography of the brain revealed bilateral acute, chronic subdural hematomas. Both subdural hematomas were aspirated and she recovered completely. Conclusions Chronic subdural hematoma can present in many different unusual ways including bilateral complete paraplegia and acute urinary retention mimicking acute spinal cord pathology. The exact mechanism of this clinical presentation is not clear and may be due to direct compression of the motor cortex to the falx or due to compression of the anterior cerebral artery due to subfalcine herniation. This case illustrates the importance of considering subdural hematoma as a rare cause for acute paraplegia and the importance of performing a computer tomography scan in traumatic brain injury when indicated. Failure to consider non-spinal causes of paraplegia results in potential mismanagement. According to our knowledge this is the first case report of acute on chronic subdural hematoma presenting as acute flaccid complete paraplegia with urinary retention

Right-sided native-valve infective endocarditis caused by : A case report

Streptococcus acidominimus is rarely pathogenic in humans. In the literature, there are only few cases related to S. acidominimus , including pneumonia, meningitis, brain abscess, pericarditis, sepsis, and endocarditis. Up to now, only a few cases have been published on infective endocarditis due to S. acidominimus , commonly causing left-sided disease. Increasingly, it was noted that it is resistant to beta-lactams. There are no published cases of infective endocarditis due to S. acidominimus in Sri Lanka. Here, we report a case of right-sided native-valve infective endocarditis caused by S. acidominimus which was sensitive to beta-lactams in a 52-year-old man with congenital heart disease

A case of anterior spinal cord syndrome in a patient with unruptured thoracic aortic aneurysm with a mural thrombus

Abstract Background Spinal cord infarction is an uncommon condition. Anterior cord syndrome present with paraparesis or quadriparesis with sparing of vibration and proprioceptive senses. The common causes of anterior cord syndrome are aortic dissection and aortic surgical interventions. Spontaneous unruptured nondissected aortic aneurysms with intramural thrombus can rarely cause anterior cord infarctions. Case presentation We report a case of anterior spinal cord syndrome due to aneurysm of the thoracic aorta with a mural thrombus. A 64 year old male presented with sudden onset paraparesis with a sensory level at T1 with preserved sense of proprioception and vibration. The MRI panspine revealed increased T2 intensity in the anterior portion of the spinal cord from C5 to T10 level with characteristic ‘owl eye’ appearance on axial imaging. The CT aortogram detected aneurysmal dilatation of the ascending aortic, arch and descending thoracic aorta with significant intimal irregularities, calcified atherosclerotic plaques and a small mural thrombus. Conclusion The possible mechanisms postulated are occlusion of ostia of radicular arteries by the atherosclerotic plaques and mural thrombus or thromboembolism to the anterior spinal artery. Nondissected atherosclerotic aortic aneurysms should be considered in patients presenting with spinal cord infarctions especially in the presence of vascular risk factors and smoking