cliot (version 1.0.0)

simon_broome_fh_criteria: Simon Broome Diagnostic Criteria for Familial Hypercholesterolemia (FH)

Description

Evaluates the Simon Broome criteria to diagnose Familial Hypercholesterolemia (FH). The diagnosis is based on elevated cholesterol levels combined with physical signs (xanthomas), family history, or DNA evidence. A diagnosis can be "Definite FH" or "Possible FH".

Usage

simon_broome_fh_criteria(adult, total_cholesterol, ldl_cholesterol,
                         tendinous_xanthoma, fh_premature_chd,
                         fh_hypercholesterolemia, dna_mutation, units = "mg/dL")

Value

A list containing:

Diagnosis

The diagnostic classification (Definite FH, Possible FH, or Unlikely FH).

Cholesterol_Met

Boolean indicating if the cholesterol threshold was met.

Arguments

adult

Numeric (0 or 1). Is the patient an adult (age > 16)? (1 = Yes).

total_cholesterol

Numeric. Total cholesterol level.

ldl_cholesterol

Numeric. LDL cholesterol level.

tendinous_xanthoma

Numeric (0 or 1). Presence of tendinous xanthoma in the patient or a 1st/2nd degree relative. (1 = Yes).

fh_premature_chd

Numeric (0 or 1). Family history of myocardial infarction (MI) at age < 60 in 1st degree relative or < 50 in 2nd degree relative. (1 = Yes).

fh_hypercholesterolemia

Numeric (0 or 1). Family history of elevated cholesterol (> 7.5 mmol/L) in 1st/2nd degree relative. (1 = Yes).

dna_mutation

Numeric (0 or 1). Evidence of a functional mutation in LDLR, APOB, or PCSK9 gene. (1 = Yes).

units

String. Units for cholesterol input. Options: "mg/dL" (default) or "mmol/L".

Details

Cholesterol Thresholds: - Adult: Total Cholesterol > 7.5 mmol/L (290 mg/dL) or LDL > 4.9 mmol/L (190 mg/dL) - Child: Total Cholesterol > 6.7 mmol/L (260 mg/dL) or LDL > 4.0 mmol/L (155 mg/dL)

Diagnosis: - Definite FH: Cholesterol threshold met PLUS (Tendinous xanthoma OR DNA mutation). - Possible FH: Cholesterol threshold met PLUS (Family Hx of premature CHD OR Family Hx of hypercholesterolemia).

References

Scientific Steering Committee on behalf of the Simon Broome Register Group. Risk of fatal coronary heart disease in familial hypercholesterolaemia. BMJ. 1991;303(6807):893-896.

Examples

# Example 1: Definite FH (Adult)
# LDL 200 mg/dL (>190), Xanthoma present
simon_broome_fh_criteria(1, 300, 200, 1, 0, 0, 0)

# Example 2: Possible FH (Child)
# LDL 160 mg/dL (>155), Family Hx of high chol
simon_broome_fh_criteria(0, 270, 160, 0, 0, 1, 0)