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
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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
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