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Alpha-2-plasmin inhibitor deficiency

MedGen UID:
414178
•Concept ID:
C2752081
•
Disease or Syndrome
Synonyms: Anti-plasmin deficiency, congenital; ANTIPLASMIN DEFICIENCY; PLASMIN INHIBITOR DEFICIENCY
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): SERPINF2 (17p13.3)
 
Monarch Initiative: MONDO:0009883
OMIM®: 262850
Orphanet: ORPHA79

Definition

Alpha-2-plasmin inhibitor deficiency is a rare autosomal recessive hemorrhagic diathesis. Most bleeds are severe, appear during childhood, and, in a few cases, umbilical bleeding is the first manifestation. Some homozygous patients present only moderate bleeding (Favier et al., 2001). [from OMIM]

Clinical features

From HPO
Joint hemorrhage
MedGen UID:
5479
•Concept ID:
C0018924
•
Pathologic Function
Hemorrhage occurring within a joint.
See: Feature record | Search on this feature
Persistent bleeding after trauma
MedGen UID:
375403
•Concept ID:
C1844374
•
Finding
See: Feature record | Search on this feature
Hemothorax
MedGen UID:
5510
•Concept ID:
C0019123
•
Pathologic Function
The presence of blood in the pleural space.
See: Feature record | Search on this feature
Bruising susceptibility
MedGen UID:
140849
•Concept ID:
C0423798
•
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlpha-2-plasmin inhibitor deficiency

Professional guidelines

PubMed

Epsilon-aminocaproic acid in the treatment of patients with acute promyelocytic leukemia and acquired alpha-2-plasmin inhibitor deficiency.
Schwartz BS, Williams EC, Conlan MG, Mosher DF
Ann Intern Med 1986 Dec;105(6):873-7. doi: 10.7326/0003-4819-105-6-873. PMID: 3465267

Recent clinical studies

Etiology

Acute myocardial ischemia in a patient with heterozygous alpha-2-plasmin inhibitor deficiency.
Brands-Nijenhuis AV, van Geel PP, Meijer K
Blood Coagul Fibrinolysis 2009 Oct;20(7):599-600. doi: 10.1097/MBC.0b013e32832d9b33. PMID: 19593116
Acute promyelocytic leukaemia and acquired alpha-2-plasmin inhibitor deficiency: a retrospective look at the use of epsilon-aminocaproic acid (Amicar) in 30 patients.
Wassenaar T, Black J, Kahl B, Schwartz B, Longo W, Mosher D, Williams E
Hematol Oncol 2008 Dec;26(4):241-6. doi: 10.1002/hon.867. PMID: 18613223Free PMC Article
Implications of excessive fibrinolysis and alpha(2)-plasmin inhibitor deficiency in patients with severe head injury.
Kushimoto S, Yamamoto Y, Shibata Y, Sato H, Koido Y
Neurosurgery 2001 Nov;49(5):1084-9; discussion 1089-90. doi: 10.1097/00006123-200111000-00011. PMID: 11846901
In vivo thrombin and plasmin activities in patients with acute promyelocytic leukemia (APL): effect of all-trans retinoic acid (ATRA) therapy.
Dombret H, Scrobohaci ML, Daniel MT, Micléa JM, Castaigne S, Chomienne C, Fenaux P, Degos L
Leukemia 1995 Jan;9(1):19-24. PMID: 7531260
Epsilon-aminocaproic acid in the treatment of patients with acute promyelocytic leukemia and acquired alpha-2-plasmin inhibitor deficiency.
Schwartz BS, Williams EC, Conlan MG, Mosher DF
Ann Intern Med 1986 Dec;105(6):873-7. doi: 10.7326/0003-4819-105-6-873. PMID: 3465267

Diagnosis

Acute promyelocytic leukaemia and acquired alpha-2-plasmin inhibitor deficiency: a retrospective look at the use of epsilon-aminocaproic acid (Amicar) in 30 patients.
Wassenaar T, Black J, Kahl B, Schwartz B, Longo W, Mosher D, Williams E
Hematol Oncol 2008 Dec;26(4):241-6. doi: 10.1002/hon.867. PMID: 18613223Free PMC Article
Implications of excessive fibrinolysis and alpha(2)-plasmin inhibitor deficiency in patients with severe head injury.
Kushimoto S, Yamamoto Y, Shibata Y, Sato H, Koido Y
Neurosurgery 2001 Nov;49(5):1084-9; discussion 1089-90. doi: 10.1097/00006123-200111000-00011. PMID: 11846901
Hereditary alpha 2-plasmin inhibitor deficiency caused by a transport-deficient mutation (alpha 2-PI-Okinawa). Deletion of Glu137 by a trinucleotide deletion blocks intracellular transport.
Miura O, Sugahara Y, Aoki N
J Biol Chem 1989 Oct 25;264(30):18213-9. PMID: 2572590

Therapy

Acute promyelocytic leukaemia and acquired alpha-2-plasmin inhibitor deficiency: a retrospective look at the use of epsilon-aminocaproic acid (Amicar) in 30 patients.
Wassenaar T, Black J, Kahl B, Schwartz B, Longo W, Mosher D, Williams E
Hematol Oncol 2008 Dec;26(4):241-6. doi: 10.1002/hon.867. PMID: 18613223Free PMC Article
In vivo thrombin and plasmin activities in patients with acute promyelocytic leukemia (APL): effect of all-trans retinoic acid (ATRA) therapy.
Dombret H, Scrobohaci ML, Daniel MT, Micléa JM, Castaigne S, Chomienne C, Fenaux P, Degos L
Leukemia 1995 Jan;9(1):19-24. PMID: 7531260
Intramedullary multiple hematomas in siblings with congenital alpha-2-plasmin inhibitor deficiency: orthopedic surgery with protection by tranexamic acid.
Takahashi Y, Tanaka T, Nakajima N, Yoshioka A, Fukui H, Miyauchi Y, Mii Y, Tamai S
Haemostasis 1991;21(5):321-7. doi: 10.1159/000216243. PMID: 1806461
Epsilon-aminocaproic acid in the treatment of patients with acute promyelocytic leukemia and acquired alpha-2-plasmin inhibitor deficiency.
Schwartz BS, Williams EC, Conlan MG, Mosher DF
Ann Intern Med 1986 Dec;105(6):873-7. doi: 10.7326/0003-4819-105-6-873. PMID: 3465267
Fibrinolysis and acquired alpha-2 plasmin inhibitor deficiency in amyloidosis.
Meyer K, Williams EC
Am J Med 1985 Sep;79(3):394-6. doi: 10.1016/0002-9343(85)90321-3. PMID: 4036990

Prognosis

Implications of excessive fibrinolysis and alpha(2)-plasmin inhibitor deficiency in patients with severe head injury.
Kushimoto S, Yamamoto Y, Shibata Y, Sato H, Koido Y
Neurosurgery 2001 Nov;49(5):1084-9; discussion 1089-90. doi: 10.1097/00006123-200111000-00011. PMID: 11846901
Epsilon-aminocaproic acid in the treatment of patients with acute promyelocytic leukemia and acquired alpha-2-plasmin inhibitor deficiency.
Schwartz BS, Williams EC, Conlan MG, Mosher DF
Ann Intern Med 1986 Dec;105(6):873-7. doi: 10.7326/0003-4819-105-6-873. PMID: 3465267

Clinical prediction guides

Acute promyelocytic leukaemia and acquired alpha-2-plasmin inhibitor deficiency: a retrospective look at the use of epsilon-aminocaproic acid (Amicar) in 30 patients.
Wassenaar T, Black J, Kahl B, Schwartz B, Longo W, Mosher D, Williams E
Hematol Oncol 2008 Dec;26(4):241-6. doi: 10.1002/hon.867. PMID: 18613223Free PMC Article
Implications of excessive fibrinolysis and alpha(2)-plasmin inhibitor deficiency in patients with severe head injury.
Kushimoto S, Yamamoto Y, Shibata Y, Sato H, Koido Y
Neurosurgery 2001 Nov;49(5):1084-9; discussion 1089-90. doi: 10.1097/00006123-200111000-00011. PMID: 11846901
In vivo thrombin and plasmin activities in patients with acute promyelocytic leukemia (APL): effect of all-trans retinoic acid (ATRA) therapy.
Dombret H, Scrobohaci ML, Daniel MT, Micléa JM, Castaigne S, Chomienne C, Fenaux P, Degos L
Leukemia 1995 Jan;9(1):19-24. PMID: 7531260
Epsilon-aminocaproic acid in the treatment of patients with acute promyelocytic leukemia and acquired alpha-2-plasmin inhibitor deficiency.
Schwartz BS, Williams EC, Conlan MG, Mosher DF
Ann Intern Med 1986 Dec;105(6):873-7. doi: 10.7326/0003-4819-105-6-873. PMID: 3465267

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    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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      Related information in PubMed Central Links
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