alpha-2-plasmin inhibitor deficiency

MeSH: C537777ORPHA: 79

Overview

hemorrhagic disease that has material basis in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with alpha-2-plasmin inhibitor deficiency, sourced from HPO and Orphanet clinical annotations.

Persistent bleeding after traumaJoint hemorrhageHematuriaAbnormal bleedingHemothoraxIntramuscular hematomaReduced euglobulin clot lysis timeGingival bleedingBruising susceptibilityIntracranial hemorrhageBone painAbnormal umbilical stump bleeding

Classification & Codes

MeSH Code

C537777

Orphanet Code

ORPHA:79
alpha-2-plasmin inhibitor deficiency
MeSHC537777
OrphanetORPHA:79
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
alpha-2-plasmin inhibitor deficiency | OrphanDrug