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Pathogenic variants in ADAMTS13 clinical implications

Pathogenic variants in ADAMTS13 clinical implications
Setting Implication
Heterozygosity for a PV in ADAMTS13
  • Asymptomatic carrier state
  • Possible increased risk of cardiovascular complications (stroke, coronary heart disease) later in life
Biallelic PVs in ADAMTS13 (homozygous or compound heterozygous)
  • Be aware of the risk of life-threatening complications, especially during neonatal period and pregnancy (but can occur at any time)
  • Ensure appropriate care by an individual with expertise in TTP
    • Treat symptomatic episodes with a source of ADAMTS13
    • Individualize the prophylaxis strategy (episodic versus chronic)
  • Offer genetic counseling and testing to siblings
Biallelic variants in ADAMTS13 with one PV and one VUS
  • Possible risk of hereditary TTP
  • Measure ADAMTS13 activity to determine risk
  • If severe deficiency (activity <10%) treat as biallelic PVs
Relatives of an individual with hereditary TTP
  • Siblings:
    • 25% chance of being affected with hereditary TTP
    • 50% chance of being a heterozygous carrier
    • 25% chance of not inheriting a PV
  • Parents: Obligate heterozygous carriers
  • Children: Obligate heterozygous carriers, unlikely to be affected due to low general population prevalence
ADAMTS13 is the disease gene for hereditary TTP, a potentially life-threatening condition. Refer to UpToDate for epidemiology, evaluation, differential diagnosis, management, and supporting data.
ADAMTS13: a disintegrin and metalloprotease with a thrombospondin type 1 motif, member 13; PV: pathogenic variant; TTP: thrombotic thrombocytopenic purpura; VUS: variant of uncertain significance.
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