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Condition report · Hematological

Inherited Fibrinolytic Disorders

Rare inherited conditions affecting the system that breaks down blood clots. Most cause bleeding because clots dissolve too quickly, often with normal routine clotting tests; plasminogen deficiency instead causes thick deposits on the lining of the eyes, mouth and airways.

A condition report looks for rare variants known to cause the conditions it covers.

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The 4 conditions we analyse

Plasminogen Activator Inhibitor-1 (PAI-1) Deficiency

Autosomal recessive

Caused by changes in both copies of SERPINE1, clots break down too early, leading to bleeding after injury, surgery or childbirth and heavy periods.

What a diagnosis changes

Tranexamic acid, a medicine that slows clot breakdown, is effective in preventing and treating bleeding.

Genes analysed

Also known as

congenital PAI-1 deficiency; plasminogen activator inhibitor type 1 deficiency

MONDO:0013227OMIM 613329Orphanet 465MedGen 412870

Alpha-2-Plasmin Inhibitor Deficiency

Autosomal recessive

Caused by changes in both copies of SERPINF2, clots break down too early, leading to bleeding that can be severe, including bleeding into joints.

What a diagnosis changes

Tranexamic acid, a medicine that slows clot breakdown, is effective in preventing and treating bleeding.

Genes analysed

Also known as

anti-plasmin deficiency, congenital; antiplasmin deficiency, congenital; plasmin inhibitor deficiency

MONDO:0009883OMIM 262850Orphanet 79MedGen 414178

Plasminogen Deficiency (Hypoplasminogenaemia)

Autosomal recessive

Caused by changes in both copies of PLG, it leads to thick fibrin deposits on mucous membranes, most often on the eyelids (ligneous conjunctivitis) and also on the gums and in the airways.

What a diagnosis changes

Plasminogen replacement therapy is available and can clear the deposits.

Genes analysed

Also known as

ligneous conjunctivitis; plasminogen deficiency type 1; plasminogen deficiency, type I

MONDO:0009009OMIM 217090Orphanet 722Orphanet 97231MedGen 369859

Quebec Platelet Disorder

Autosomal dominant

A dominant condition in which platelets contain too much urokinase plasminogen activator, so clots break down too quickly, causing delayed bleeding after injury or surgery.

What a diagnosis changes

Bleeding responds to tranexamic acid but not to platelet transfusion.

Genes analysed

Also known as

BDPLT5; factor V Quebec; QPD

MONDO:0011136OMIM 601709Orphanet 220436MedGen 356528

Limitations

  • Quebec platelet disorder is caused by a duplication of a stretch of DNA that includes the PLAU gene, which needs copy-number analysis and may be missed.

Other hematological conditions

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