Large multiple tuberous xanthomas presenting with severe coronary artery disease

Maskey, Arun; Hirachan, Anish; Yadav, Dharmanath; Roka, Madhu

doi:10.1093/eurheartj/ehx157

Cited by 2 publications

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Hypercholesterolemia and hypertriglyceridemia secondary to Type 2 diabetes mellitus [[64], [65], [66]] and hypothyroidism [67] have been reported. Xanthelasma palpebrarum with hypercholesterolemia has been reported in eleven people in a study of lipid profile of patients with xanthelasma palpebrarum [68] A case of a 45 year old hypertensive male with large multiple tuberous xanthomas, hypercholesterolemia, hypertriglyceridemia and high LDL cholesterol has been reported [69].…”

Section: Resultsmentioning

confidence: 99%

Case reports of metabolic disorders from Nepal

Pandey

2019

Molecular Genetics and Metabolism Reports

View full text Add to dashboard Cite

BackgroundThe prevalence of metabolic disease in Nepal is largely unknown. Some consideration has been given by the nepalese government for high prevalence of congenital disorders in some populations, but disorders due to enzymatic deficiencies have not been considered as a class of diseases where timely diagnosis and intervention might be possible. No case for these disorders has been made so far, however, findings of many rare metabolic diseases have been reported in literature by the nepalese medical fraternity.MethodsA search for case reports on metabolic disorders listed according to International Classification of Diseases −11 was performed using the google search engine.ResultsA total of 443 cases have been discovered presented in the literature. This does not include disorders that might be due to lifestyle and behaviour. Most of the reported cases have been identified based on clinical acumen, radiological and histopathological findings.ConclusionsGlucose 6 phosphate dehydrogenase deficiency, Wilson's disease and lysosomal disorders should be considered for early diagnosis through newborn screening along with the acknowledged disorders hypothyroidism and hemoglobinopathies in Nepal. Early intervention in these disorders can significantly reduce morbidity and mortality in infancy.

show abstract

Section: Resultsmentioning

confidence: 99%