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Diagnosis of cardiometabolic abnormalities in adolescents [4,5,11] Condition Symptoms and Investigation signs Diabetes Asymptomatic, Fasting glucose polyuria, 2-h glucose polydipsia, post OGTT weight loss, Random glucose acanthosis nigricans Hypertension Asymptomatic, BP reading headaches, taken with dyspnoea, appropriate sweating cuff size on [greater than or equal to] 3 separate occasions Dyslipidaemia Xanthomata Fasting lipid screen--total cholesterol LDL-C HDL-C Triglycerides Metabolic Specific to Waist syndrome * each condition circumference, of the syndrome triglycerides, HDL-C, BP, fasting glucose Condition Diagnosis Management Diabetes [greater than Diet and or equal to] lifestyle 7.
In the Dutch criteria, (22) points take into consideration family history of hyperlipidemia or heart disease, clinical characteristics such as tendinous xanthomata, elevated LDL cholesterol, and/ or an identified mutation.
Thus on the basis of history, physical examination showing xanthomata, findings of CT angiogram and results of lipid profile of the patient and his family, he was diagnosed as a case of homozygous Familial Hypercholestremia (type II hyperlipoproteinemia) with supravalvular aortic stenosis.
5 Scalp folliculitis 2 Eruptive xanthomata ([dagger]) 0 Osteoma cutis ([dagger]) 0 Erythema nodosum ([dagger]) 0 Skin fragility 2 ([dagger]) Reported very uncommonly in other series
The article on physical signs in dyslipidaemia provides more details, but the most important physical signs are tendon xanthomata (usually felt as nodules or thickening of the Achilles tendons) and skin xanthomata (excluding xanthelasma which are not very helpful).
There were no xanthomata or xanthelasmata and no hepatomegaly.
Xanthomata - which is a thickening of the skin or a discrete mass.
Regression of xanthomata of the eyelids with modified fat diet.
Levels above 500 mg/dl warrant the label "definite hypertriglyceridemia" and carry a risk of xanthomata and pancreatitis.