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Disease Profile

Prothrombin deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Hypoprothrombinemia, inherited; Congenital factor II deficiency; Dysprothrombinemia;

Categories

Blood Diseases; Congenital and Genetic Diseases

Summary

Prothrombin (or factor II) deficiency is a blood disorder that affects the ability of the blood to clot properly. Symptoms of the deficiency include prolonged bleeding, especially after an injury or after surgery. Women with prothrombin deficiency may have heavy menstrual bleeding. The severity of the disease can vary, with some people experiencing severe bleeding without any known cause, and others only experiencing increased bleeding after a surgery or serious injury.[1] 

Prothrombin deficiency is caused by changes (mutations) in the F2 gene. There are two types of inherited prothrombin deficiency. Type I or hypoprothrombinemia and type II or dysprothrombinemia. Inheritance of both types is autosomal recessive.[1][2] Diagnosis is based on laboratory test results that are consistent with the deficiency. Treatment includes IV therapy using plasma, which is the part of the blood that contains the blood clotting factors. The blood product that is used is called fresh frozen plasma. A form of the disease that is not inherited (acquired) can be caused by vitamin K deficiency, liver disease, or an autoimmune response. The underlying cause of acquired factor II deficiency should be treated in order to relieve symptoms of the disease.[3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Prolonged partial thromboplastin time
0003645
Prolonged prothrombin time
0008151
Reduced prothrombin antigen
0040250
30%-79% of people have these symptoms
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed

[ more ]

0000421
Intracranial hemorrhage
Bleeding within the skull
0002170
Joint hemorrhage
Bleeding within a joint
Hemarthrosis

[ more ]

0005261
5%-29% of people have these symptoms
Abnormal umbilical stump bleeding
0011884
Anemia
Low number of red blood cells or hemoglobin
0001903
Cephalohematoma
0012541
Excessive bleeding from superficial cuts
0030138
Intramuscular hematoma
0012233
Menorrhagia
Abnormally heavy bleeding during menstruation
0000132
Microscopic hematuria
Small amount of blood in urine
0002907
Oral cavity bleeding
Bleeding from mouth
0030140
Post-partum hemorrhage
Bleeding post-delivery
0011891
Prolonged bleeding after dental extraction
0006298
Prolonged bleeding following circumcision
0030137
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Congenital onset
Symptoms present at birth
0003577
Ecchymosis
0031364
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Gingival bleeding
Bleeding gums
0000225
Prolonged bleeding time
0003010
Variable expressivity
0003828

Cause

Prothrombin deficiency can be caused by changes (mutations) in the F2 gene. The F2 gene provides instructions to the body to make a protein called prothrombin. Prothrombin helps the body make blood clots in response to injury. One step of the process involves prothrombin binding to platelets, which helps the body form clots. When there are disease causing changes to the F2 gene, not enough working prothrombin protein is made, so the body cannot form clots properly.[1][3] There are two types of inherited prothrombin deficiency, type I and type II. Type I or hypoprothrombinemia is more severe, and it is characterized by a decreased level of normally functioning protein, and therefore, by a decrease in proteinactivity. Type II or dysprothrombinemia is characterized by normal or low-normal levels of an abnormal (dysfunctional) protein. Bleeding symptoms vary depending on the amount of residual functional activity.[2]

In other cases, factor II deficiency is acquired. This means that it develops later in life and is not caused by a genetic change. Potential causes of acquired factor II deficiency include severe liver disease, vitamin K deficiency, or an autoimmune response that prevents the prothrombin protein from working properly.[3] 

Treatment

The treatment of prothrombin deficiency depends on the exact cause and severity of the disease. When a person with prothrombin (factor II) deficiency has bleeding episodes, fresh frozen plasma, the part of the blood that contains the clotting factors, can be used to treat the bleeding. If a person with prothrombin deficiency requires surgery, plasma exchange therapy may be used to increase factor II (prothrombin) levels prior to surgery. People who have acquired prothrombin deficiency may benefit from taking vitamin K. Some people with prothrombin deficiency may be recommended to avoid activities that can result in physical contact or injuries.[3]

In some cases, prothrombin complex concentrates can be used to increase factor II levels. However, because these concentrates contain clotting factors other than factor II, they can result in an increased risk for blood to clot too quickly within the blood vessels (thromboembolic event)[3]

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

References

  1. Prothrombin deficiency. Genetics Home Reference. November 2013; https://ghr.nlm.nih.gov/condition/prothrombin-deficiency.
  2. Meeks SL & Abshire TC. Prothrombin (Factor II) Deficiency Disease Overview. Rare Bleeding Disorders. 2014; https://www.rarecoagulationdisorders.org/diseases/prothrombin-factor-ii-deficiency/disease-overview.
  3. Schwartz RA, Steen CJ, and Gascon P. Factor II Deficiency. Medscape Reference. March 1, 2017; https://emedicine.medscape.com/article/209742-overview.
  4. Girolami A, Santarossa C, Cosi E, Ferrari S, Lombardi AM, and Girolami B. Bleeding manifestations in heterozygotes with prothrombin deficiency or abnormalities vs. unaffected family members as observed during a long follow-up study. Blood Coagulation & Fibrinolysis. June 27, 2017; https://www.ncbi.nlm.nih.gov/pubmed/28665815.

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