Condition | Clinical presentation/examination | Tests | Notes |
Dyslipidemia | Asymptomatic or family history of CVD | Screening test:
Timing:
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Hypertension | Asymptomatic; detected on routine monitoring | Screening test:
Timing:
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Follow-up tests:
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Metabolic dysfunction-associated steatotic liver disease (MASLD; formerly termed nonalcoholic fatty liver disease) | Generally asymptomatic; may have RUQ tenderness or hepatomegaly | Screening test:
Timing:
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Follow-up tests:
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Gallbladder disease | Recurrent RUQ abdominal pain, sometimes with fatty food intolerance, nausea, vomiting, or jaundice |
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Type 2 diabetes mellitus or impaired glucose tolerance | Often asymptomatic; may present with urinary frequency, nocturia, polydipsia, or polyuria | Screening test:
Indications:
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Sleep apnea | Habitual snoring, mouth breathing, daytime sleepiness, or inattentive behaviors and/or adenotonsillar hypertrophy | Screening:
Diagnostic test:
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SCFE | Unexplained limp or aching pain in hip, groin, thigh, or knee |
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Varus (Blount disease) or valgus deformity | Varum (bow legs) or varus (knock knees) deformity on examination, with or without knee pain |
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Polycystic ovary syndrome | Menstrual irregularity, excessive acne, hirsutism | Initial tests:
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Impaired kidney function | Asymptomatic | Screening:
Indications:
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Precocious puberty | Appearance of secondary sexual characteristics <8 years (females) or <9 years (males) | Initial tests:
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Pseudotumor cerebri | Headaches (especially morning), nausea/vomiting, blurred or decreased vision | Initial test:
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ABPM: ambulatory blood pressure monitoring; ALT: alanine aminotransferase; AST: aspartate aminotransferase; BP: blood pressure; BUN: blood urea nitrogen; CBC: complete blood count; CVD: cardiovascular disease; DHEAS: dehydroepiandrosterone sulfate; FSH: follicle-stimulating hormone; GGTP: gamma-glutamyl transpeptidase; HbA1c: glycated hemoglobin; hCG: human chorionic gonadotropin; LH: luteinizing hormone; MASH: metabolic dysfunction-associated steatohepatitis; MASLD: metabolic dysfunction-associated steatotic liver disease; RUQ: right upper quadrant; SCFE: slipped capital femoral epiphysis; TSH: thyroid-stimulating hormone; UACR: urine albumin-to-creatinine ratio; ULN: upper limit of normal.
* For interpretation of serum ALT, use the ULN of 22 units/L for females and 26 units/L for males, as determined from healthy lean children in the National Health and Nutrition Examination Survey[4]. Note that these values are substantially lower than the ULNs reported in most pediatric hospital laboratories.
¶ Screening laboratory tests for suspected MASLD include a CBC with platelets, HbA1c, and lipid panel.
Δ Risk factors for type 2 diabetes include: family history of type 2 diabetes, high-risk race/ethnicity (Native American, African American, Latino, Asian American, Pacific Islander), signs of insulin resistance (eg, acanthosis nigricans), or conditions associated with diabetes (hypertension, dyslipidemia, polycystic ovary syndrome).
◊ Symptoms suggesting obstructive sleep apnea include persistent snoring (most nights, most sleeping positions), observed gasping or apneas, nocturnal enuresis, and morning headaches.
§ Screening for impaired kidney function is recommended for patients with type 2 diabetes[5]. If the initial test is abnormal, repeat with confirmation in two of three samples over six months. UpToDate authors also suggest this screening for patients with other risk factors for developing chronic kidney disease, including severe obesity and hypertension.Do you want to add Medilib to your home screen?