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  3. Prothrombin deficiency
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Prothrombin deficiency


Title




Other Names:
Hypoprothrombinemia, inherited; Congenital factor II deficiency; Dysprothrombinemia; Hypoprothrombinemia, inherited; Congenital factor II deficiency; Dysprothrombinemia; Inherited prothrombin deficiency; Inherited hypoprothrombinemia; Factor II deficiency See More
Categories:
Blood Diseases; Congenital and Genetic Diseases

Summary Summary


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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]
Last updated: 11/18/2017

Symptoms Symptoms


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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.

Showing of 25 |
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
Showing of 25 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Cause Cause


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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] 
Last updated: 11/18/2017

Inheritance Inheritance


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When prothrombin deficiency is caused by genetic changes (mutations) to the F2 gene, it is inherited in an autosomal recessive manner.[1][3] This means that both copies of the F2 gene must be changed in order for a person to have symptoms of the disease. We inherit one copy of each gene from our mother and the other one from our father. Men and women with a disease-causing change in only one copy of the F2 gene are known as carriers of prothrombin deficiency (or factor II deficiency). When two carriers have children together, for each child there is a:
  • 25% chance that the child will have prothrombin deficiency
  • 50% chance that the child will be a carrier of prothrombin deficiency like the parents
  • 25% chance that the child will have two working copies of the F2 gene, so the child will not have prothrombin deficiency and will not be a carrier
Carriers of prothrombin (factor II) deficiency typically do not show severe signs and symptoms of the disease, but some may have increased bleeding after surgery.[4]

When prothrombin (factor II) deficiency is acquired, it is not caused by genetic changes in the F2 gene. In these cases, the disease typically does not run in families, unless the underlying cause of the associated disease is also passed from parents to children.[3]
Last updated: 11/18/2017

Treatment Treatment


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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]. 
Last updated: 11/18/2017

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include deficiencies of factors V, VII, X, VIII, IX, XI, XIII or acquired deficiencies in FII (lupus anticoagulant) (see these terms).
Visit the Orphanet disease page for more information.

Learn More Learn More


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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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References 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; http://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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