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Acta Medica Portuguesa Jun 2019Diabetes is a serious, chronic disease with a rising prevalence worldwide. Its complications are a major cause of morbidity and mortality and contribute substantially... (Review)
Review
Diabetes is a serious, chronic disease with a rising prevalence worldwide. Its complications are a major cause of morbidity and mortality and contribute substantially to health care costs. In this article the authors review the most common and sensitive skin manifestations that can be present on patients with diabetes and prediabetes. The prompt recognition of these frequently underestimated entities is extremely important as it may trigger not only an adequate metabolic evaluation but also a timely referral and appropriate treatment, minimizing the secondary effects of long-term diabetes and improving the prognosis of diabetic patients.
Topics: Acanthosis Nigricans; Blister; Diabetes Complications; Diabetic Angiopathies; Diabetic Foot; Granuloma Annulare; Humans; Necrobiosis Lipoidica; Prediabetic State; Scleredema Adultorum; Skin Diseases; Skin Diseases, Infectious; Skin Diseases, Vascular; Xanthomatosis
PubMed: 31292028
DOI: 10.20344/amp.10738 -
European Heart Journal Aug 2014Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein...
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
AIMS
Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). Given recent insights into the heterogeneity of genetic defects and clinical phenotype of HoFH, and the availability of new therapeutic options, this Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) critically reviewed available data with the aim of providing clinical guidance for the recognition and management of HoFH.
METHODS AND RESULTS
Early diagnosis of HoFH and prompt initiation of diet and lipid-lowering therapy are critical. Genetic testing may provide a definitive diagnosis, but if unavailable, markedly elevated LDL-C levels together with cutaneous or tendon xanthomas before 10 years, or untreated elevated LDL-C levels consistent with heterozygous FH in both parents, are suggestive of HoFH. We recommend that patients with suspected HoFH are promptly referred to specialist centres for a comprehensive ACVD evaluation and clinical management. Lifestyle intervention and maximal statin therapy are the mainstays of treatment, ideally started in the first year of life or at an initial diagnosis, often with ezetimibe and other lipid-modifying therapy. As patients rarely achieve LDL-C targets, adjunctive lipoprotein apheresis is recommended where available, preferably started by age 5 and no later than 8 years. The number of therapeutic approaches has increased following approval of lomitapide and mipomersen for HoFH. Given the severity of ACVD, we recommend regular follow-up, including Doppler echocardiographic evaluation of the heart and aorta annually, stress testing and, if available, computed tomography coronary angiography every 5 years, or less if deemed necessary.
CONCLUSION
This EAS Consensus Panel highlights the need for early identification of HoFH patients, prompt referral to specialized centres, and early initiation of appropriate treatment. These recommendations offer guidance for a wide spectrum of clinicians who are often the first to identify patients with suspected HoFH.
Topics: Anticholesteremic Agents; Arcus Senilis; Atherosclerosis; Blood Component Removal; Cardiovascular Diseases; Cholesterol, LDL; Diagnosis, Differential; Early Diagnosis; Gene Frequency; Genetic Heterogeneity; Homozygote; Humans; Hyperlipoproteinemia Type II; Liver Transplantation; Mutation; Pedigree; Phenotype; Practice Guidelines as Topic; Xanthomatosis
PubMed: 25053660
DOI: 10.1093/eurheartj/ehu274 -
Atherosclerosis Aug 2017
Topics: Achilles Tendon; Coronary Artery Disease; Humans; Hyperlipoproteinemia Type II; Pilot Projects; Plaque, Atherosclerotic; Xanthomatosis
PubMed: 28606368
DOI: 10.1016/j.atherosclerosis.2017.06.003 -
Indian Pediatrics Jul 2022
Topics: Child; Humans; Xanthomatosis
PubMed: 35869883
DOI: No ID Found -
The Pan African Medical Journal 2016
Topics: Aged; Eyelid Diseases; Humans; Hyperlipoproteinemia Type II; Male; Xanthomatosis
PubMed: 28154730
DOI: 10.11604/pamj.2016.25.41.10510 -
International Journal of Molecular... Nov 2020Lipodystrophies are a heterogeneous group of physiological changes characterized by a selective loss of fatty tissue. Here, no fat cells are present, either through lack... (Review)
Review
Lipodystrophies are a heterogeneous group of physiological changes characterized by a selective loss of fatty tissue. Here, no fat cells are present, either through lack of differentiation, loss of function or premature apoptosis. As a consequence, lipids can only be stored ectopically in non-adipocytes with the major health consequences as fatty liver and insulin resistance. This is a crucial difference to being slim where the fat cells are present and store lipids if needed. A simple clinical classification of lipodystrophies is based on congenital vs. acquired and generalized vs. partial disturbance of fat distribution. Complications in patients with lipodystrophy depend on the clinical manifestations. For example, in diabetes mellitus microangiopathic complications such as nephropathy, retinopathy and neuropathy may develop. In addition, due to ectopic lipid accumulation in the liver, fatty liver hepatitis may also develop, possibly with cirrhosis. The consequences of extreme hypertriglyceridemia are typically acute pancreatitis or eruptive xanthomas. The combination of severe hyperglycemia with dyslipidemia and signs of insulin resistance can lead to premature atherosclerosis with its associated complications of coronary heart disease, peripheral vascular disease and cerebrovascular changes. Overall, lipodystrophy is rare with an estimated incidence for congenital (<1/1.000.000) and acquired (1-9/100.000) forms. Due to the rarity of the syndrome and the phenotypic range of metabolic complications, only studies with limited patient numbers can be considered. Experimental animal models are therefore useful to understand the molecular mechanisms in lipodystrophy and to identify possible therapeutic approaches.
Topics: Acyltransferases; Adipose Tissue; Animals; Atherosclerosis; Body Fat Distribution; Coronary Disease; Diabetes Mellitus; Disease Models, Animal; Fatty Liver; Humans; Hypertriglyceridemia; Insulin Resistance; Lamin Type A; Lipid Metabolism; Lipodystrophy; Pancreatitis; Xanthomatosis
PubMed: 33233602
DOI: 10.3390/ijms21228778 -
Frontiers in Neurology 2022Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the... (Review)
Review
Cerebrotendinous Xanthomatosis represents a rare and underdiagnosed inherited neurometabolic disorder due to homozygous or compound heterozygous variants involving the gene. This bile acid metabolism disorder represents a key potentially treatable neurogenetic condition due to the wide spectrum of neurological presentations in which it most commonly occurs. Cerebellar ataxia, peripheral neuropathy, spastic paraparesis, epilepsy, parkinsonism, cognitive decline, intellectual disability, and neuropsychiatric disturbances represent some of the most common neurological signs observed in this condition. Despite representing key features to increase diagnostic index suspicion, multisystemic involvement does not represent an obligatory feature and can also be under evaluated during diagnostic work-up. Chenodeoxycholic acid represents a well-known successful therapy for this inherited metabolic disease, however its unavailability in several contexts, high costs and common use in patients at late stages of disease course limit more favorable neurological outcomes for most individuals. This review article aims to discuss and highlight the most recent and updated knowledge regarding clinical, pathophysiological, neuroimaging, genetic and therapeutic aspects related to Cerebrotendinous Xanthomatosis.
PubMed: 36619921
DOI: 10.3389/fneur.2022.1049850