CLS Familial Hypercholesterolemia Management 2

Question 1

Which genetic mutation accounts for the majority of familial hypercholesterolemia cases in most populations?

Accepted Answer

LDLR loss-of-function mutation

Answer

LDLR loss-of-function mutations are responsible for approximately 85-90% of molecularly confirmed FH cases.

Question 2

A child of two parents with heterozygous FH has what probability of inheriting homozygous FH?

Accepted Answer

25%

Answer

With both parents carrying one FH allele, Mendelian inheritance gives a 25% chance of inheriting both defective alleles.

Question 3

The Dutch Lipid Clinic Network (DLCN) score uses which combination of criteria to diagnose FH?

Accepted Answer

Family history, clinical signs, LDL-C level, and genetic testing

Answer

The DLCN score incorporates family history, clinical signs (xanthomas, corneal arcus), LDL-C levels, and DNA analysis into a weighted scoring system.

Question 4

Which LDL-C threshold in an adult without other risk factors most strongly suggests homozygous FH rather than heterozygous FH?

Accepted Answer

LDL-C >400 mg/dL

Answer

Untreated LDL-C levels exceeding 400 mg/dL (often 500-1000 mg/dL) are characteristic of homozygous FH, whereas heterozygous FH typically presents with LDL-C of 190-400 mg/dL.

Question 5

Tendon xanthomas in FH patients are most commonly found at which anatomical site?

Accepted Answer

Achilles tendon

Answer

Achilles tendon xanthomas are the classic and most common tendinous xanthoma location in FH, detectable by ultrasound even when not palpable.

(CLS) Clinical Lipid Specialist Certification Practice Test

(CLS) Clinical Lipid Specialist Certification Practice Test

CLS Familial Hypercholesterolemia Management 2