Congenital Afibrinogenemia: Causes, Symptoms, and Treatment

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Congenital afibrinogenemia is a rare genetic condition characterized by a deficiency of the blood clotting protein fibrinogen. It is caused by mutations in the FGA, FGB, or FGG genes, which provide instructions for making fibrinogen. The frequency of this condition is estimated to be 1 in 1-2 million newborns worldwide. The inheritance pattern of congenital afibrinogenemia is generally autosomal recessive, which means that two copies of the mutated gene are necessary for the condition to be present.

Patients with congenital afibrinogenemia may experience spontaneous bleeding episodes, particularly in the skin and mucous membranes. The severity and frequency of bleeding vary among individuals. There is no cure for congenital afibrinogenemia, but treatment options include fibrinogen replacement therapy and supportive care to manage bleeding episodes.

ClinicalTrials.gov provides additional resources and information about ongoing clinical trials related to congenital afibrinogenemia. In addition, the Genetic Testing Registry (GTR) offers information about available genetic testing options for this condition. The Online Mendelian Inheritance in Man (OMIM) catalog provides more scientific information and references about congenital afibrinogenemia and the genes associated with it. PubMed is another valuable resource for research articles and clinical studies.

Patients and their families can also find support and advocacy from organizations such as the National Hemophilia Foundation and the World Federation of Hemophilia. These organizations offer educational materials, support groups, and other resources for patients and their loved ones.

In conclusion, congenital afibrinogenemia is a rare genetic condition caused by mutations in the FGA, FGB, or FGG genes. It is characterized by a deficiency of the blood clotting protein fibrinogen, leading to spontaneous bleeding episodes. While there is no cure, treatment options are available to manage symptoms and support patients with this condition.

Frequency

Congenital afibrinogenemia is a rare genetic disorder characterized by the deficiency or complete absence of fibrinogen, a protein necessary for blood clotting. According to a study published on PubMed, it is estimated that this condition affects approximately 1 in 1 million individuals worldwide.

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Due to the rarity of congenital afibrinogenemia, there is limited information available about the frequency of this condition. However, there are several resources and support organizations available to help patients and their families learn more about this genetic disorder.

One such resource is the World Federation of Hemophilia (WFH), which provides information and support to individuals with bleeding disorders, including congenital afibrinogenemia. The WFH offers a variety of resources, including educational materials, patient support groups, and information about clinical trials and research studies.

In addition to the WFH, there are other organizations dedicated to supporting individuals with congenital afibrinogenemia and other rare blood disorders. These organizations include the National Organization for Rare Disorders (NORD) and the American Thrombosis and Hemostasis Network (ATHN). These organizations provide resources and support for individuals with congenital afibrinogenemia, including information about genetic testing, treatment options, and the latest research findings.

Genetic testing can be an important tool for diagnosing congenital afibrinogenemia and determining the inheritance pattern of the condition. Genetic testing can identify mutations in the genes associated with afibrinogenemia, such as FGA, FGB, or FGG genes. This information can help healthcare professionals better understand the causes of congenital afibrinogenemia and provide appropriate treatment and management strategies for affected individuals.

It is important for women with congenital afibrinogenemia to be aware of the condition and its potential impact on pregnancy and childbirth. Newborns of women with congenital afibrinogenemia may also be at risk for the condition. Therefore, it is important for healthcare providers to be knowledgeable about this rare genetic disorder and to provide appropriate care and support to affected individuals and their families.

For more information about congenital afibrinogenemia and other rare bleeding disorders, additional resources and references are available from the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides detailed information about the genetic causes of rare diseases and is a valuable resource for healthcare professionals, researchers, and patient advocacy organizations.

In summary, congenital afibrinogenemia is a rare genetic disorder characterized by the deficiency or absence of fibrinogen. The exact frequency of this condition is not well-known, but it is estimated to affect approximately 1 in 1 million individuals worldwide. Resources and support organizations, such as the WFH, NORD, and ATHN, provide information and support for individuals with congenital afibrinogenemia. Genetic testing and research studies are important for understanding the causes and inheritance patterns of this condition.

Causes

Congenital afibrinogenemia is a rare genetic condition characterized by a deficiency or absence of fibrinogen, a protein essential for blood clotting. This condition is typically inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

The genetic cause of congenital afibrinogenemia has been linked to mutations in the FGA, FGB, and FGG genes, which are responsible for producing the three different chains of fibrinogen. Mutations in any of these genes can result in reduced or complete absence of functional fibrinogen in the blood.

Other rare genetic causes of congenital afibrinogenemia have also been identified, including mutations in the TFCP2 gene, which encodes a protein involved in the regulation of fibrinogen production.

It is important to note that not all cases of congenital afibrinogenemia have a genetic cause. In some cases, the cause may be unknown or due to other factors such as acquired afibrinogenemia, which can occur as a result of liver disease, disseminated intravascular coagulation, or severe bleeding.

Learn more about the genes associated with Congenital afibrinogenemia

Congenital afibrinogenemia is a rare inherited condition characterized by a deficiency or absence of the blood clotting protein fibrinogen. It is caused by mutations in the FGA, FGB, or FGG genes, which provide instructions for making the three different chains of fibrinogen. Mutations in any of these genes can disrupt the production or function of fibrinogen, leading to the severe bleeding episodes seen in patients with congenital afibrinogenemia.

The FGA gene provides instructions for making the alpha chain of fibrinogen, while the FGB gene provides instructions for making the beta chain, and the FGG gene provides instructions for making the gamma chain. Mutations in any of these genes can result in a lack of one or more of these chains, or the production of abnormal chains that cannot properly assemble into functional fibrinogen. This leads to the inability of the blood to clot properly.

The inheritance pattern of congenital afibrinogenemia varies depending on the specific mutation and gene involved. It can be inherited in an autosomal recessive or autosomal dominant manner. Autosomal recessive inheritance means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Autosomal dominant inheritance means that an individual only needs to inherit one copy of the mutated gene to be affected.

OMIM (Online Mendelian Inheritance in Man) – OMIM provides comprehensive information on the genetic basis of congenital afibrinogenemia. It includes a catalog of known FGA, FGB, and FGG gene mutations associated with the condition.
PubMed – PubMed is a database of scientific articles that can be searched for additional research and clinical studies on congenital afibrinogenemia.
ClinicalTrials.gov – ClinicalTrials.gov lists ongoing clinical trials related to congenital afibrinogenemia that may be recruiting patients for testing new treatments or studying the disease.
Genetic and Rare Diseases Information Center – The Genetic and Rare Diseases Information Center provides resources and support for patients and families affected by congenital afibrinogenemia.
American Thrombosis and Hemostasis Network – The American Thrombosis and Hemostasis Network is an advocacy and support organization for patients with bleeding disorders, including congenital afibrinogenemia.

Learning more about the genes associated with congenital afibrinogenemia can help patients and healthcare professionals better understand the condition and its causes. Additionally, the information obtained can contribute to ongoing research and the development of new treatments.

Inheritance

Congenital afibrinogenemia is a genetic disorder inherited in an autosomal recessive pattern. This means that both copies of the gene responsible for the condition must be altered in order to develop the disease.

The gene associated with congenital afibrinogenemia is the FGA gene, which provides instructions for making a protein called fibrinogen. Mutations in this gene result in a lack or dysfunction of fibrinogen, leading to the symptoms of afibrinogenemia.

Congenital afibrinogenemia is a rare condition, affecting approximately 1 in 1 million people worldwide. It occurs equally in males and females, and can be inherited from both parents who are carriers of the mutated gene.

Genetic testing can be used to confirm a diagnosis of congenital afibrinogenemia. This involves analyzing a blood sample to check for mutations in the FGA gene. Testing can also be done during pregnancy to determine if a fetus has inherited the condition.

For patients and families affected by congenital afibrinogenemia, there are resources available for support and information. The National Organization for Rare Disorders (NORD) provides a comprehensive catalog of articles, scientific studies, and advocacy resources related to the condition. Additional support and information can also be found through the World Federation of Hemophilia and other genetic and thrombosis support organizations.

Research studies are ongoing to learn more about the causes and treatment options for congenital afibrinogenemia. ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials for this condition. Additionally, the Online Mendelian Inheritance in Man (OMIM) database provides detailed information and references on the genetic basis of congenital afibrinogenemia.

Women with congenital afibrinogenemia should be aware that pregnancy and childbirth can be complicated by the condition. It is important to work closely with a healthcare provider who has experience managing the condition during pregnancy.

Other Names for This Condition

Other names for congenital afibrinogenemia include:

Fibrinogen deficiency
Fibrinogen genetic defect
Fibrinogen deficiency, congenital
Hypofibrinogenemia
Factor I deficiency
Factor I deficiency, congenital
Afibrinogenemia, congenital
Congenital fibrinogen deficiency
Congenital factor I deficiency

These names are used interchangeably in scientific literature, research articles, and medical resources to describe the same condition. They provide additional information about the genetic and inherited nature of the condition, its association with blood clotting disorders, and its rarity.

Some references and resources that provide more information about congenital afibrinogenemia include PubMed, OMIM (Online Mendelian Inheritance in Man), ClinVar, ClinicalTrials.gov, and blood disease research centers.

Testing for genetic causes of congenital afibrinogenemia can be done for newborns with a family history of the condition or for individuals suspected to have the deficiency based on clinical symptoms. Women diagnosed with congenital afibrinogenemia should receive specific instructions for pregnancy and delivery due to the potential risks associated with blood clotting.

Ongoing studies and research in the field aim to support better understanding and management of this rare genetic condition. Patient advocacy groups and genetic counseling services can provide additional support and information for individuals and families affected by congenital afibrinogenemia.

Additional Information Resources

For more information on congenital afibrinogenemia, please refer to the following resources:

ClinicalTrials.gov: A database of clinical trials for various diseases, including congenital afibrinogenemia. You can find information on ongoing and completed trials, instructions for participating, and frequency of updates.
OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of inherited diseases. You can search for the specific gene associated with congenital afibrinogenemia and learn more about its inheritance and clinical manifestations.
PubMed: A database of scientific articles and research papers. You can find articles related to congenital afibrinogenemia, including studies on the genetic causes and associated conditions.
Advocacy organizations: There are advocacy organizations dedicated to supporting patients with rare genetic diseases like congenital afibrinogenemia. These organizations often provide information, resources, and support for patients and their families.
Blood testing center: To diagnose congenital afibrinogenemia, blood testing is required. You can contact your local blood testing center or hospital for instructions on how to proceed with the testing.
Genetic counseling: If you or a family member has been diagnosed with congenital afibrinogenemia, consider seeking genetic counseling. Genetic counselors can provide information about the condition, inheritance patterns, and available testing options.
Support groups: Joining a support group for individuals with congenital afibrinogenemia can provide emotional support, as well as an opportunity to connect with others who are going through similar experiences.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding congenital afibrinogenemia. By analyzing an individual’s genes, healthcare professionals can gather valuable information about the causes, inheritance pattern, and potential treatment options for this rare condition.

There are several genes associated with congenital afibrinogenemia, including FGB, FGA, and FGG. These genes provide the instructions for producing fibrinogen, a protein that is necessary for normal blood clotting.

Genetic testing for congenital afibrinogenemia can be performed on both affected individuals and their family members to determine the specific gene mutations present. This information can give insight into the inheritance pattern and help to identify other individuals who may be at risk for the condition.

For more information about genetic testing for congenital afibrinogenemia, there are several resources available:

PubMed: A database of scientific articles and research studies where you can search for specific information about genes, clinical studies, and more.
PubMed Congenital Afibrinogenemia Catalog: A catalog specifically dedicated to articles and studies about congenital afibrinogenemia.
PubMed ClinVar: A database of genetic variation and its clinical significance, providing additional information about specific gene mutations associated with congenital afibrinogenemia.
Genetic Testing Registry: An online resource that offers information about genetic tests, including their purpose, methods, and associated diseases.
Genetics Home Reference: A reliable source of information about genetic conditions, including congenital afibrinogenemia. It provides an overview of the condition, its frequency, associated genes, and inheritance pattern.
OMIM: A comprehensive source of information about genetic conditions, including detailed descriptions, clinical features, associated genes, and inheritance patterns.
ClinicalTrials.gov: A registry and results database of publicly and privately supported clinical studies, providing information about ongoing research and potential treatment options.
Advocacy and support groups: There are various organizations that offer support, resources, and opportunities for connecting with other individuals and families affected by congenital afibrinogenemia.

Genetic testing offers valuable insights into the causes and inheritance patterns of congenital afibrinogenemia. By learning more about the associated genes and available testing options, patients, healthcare providers, and researchers can work together to better understand and manage this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a catalog of genetic and rare diseases. GARD provides information on these conditions to the clin, genetic, and scientific communities, as well as to patients and their families. GARD aims to improve the diagnosis, treatment, and understanding of these conditions.

Congenital afibrinogenemia is a rare genetic condition that causes a deficiency of the protein fibrinogen in the blood. It is inherited in an autosomal recessive manner, meaning both copies of the gene must be altered to develop the condition.

Thromb- is the medical term for a blood clot, and fibrinogen plays a crucial role in the formation of blood clots. Therefore, individuals with congenital afibrinogenemia may experience abnormal bleeding, especially after injury or surgery.

This condition can be diagnosed through genetic testing, which looks for mutations in the gene responsible for fibrinogen production. The frequency of congenital afibrinogenemia is estimated to be 1 in 1 million newborns.

Currently, there is no cure for congenital afibrinogenemia. Treatment options focus on managing bleeding episodes and preventing complications. This may include infusions of fibrinogen or other clotting factors to help control bleeding.

The Genetic and Rare Diseases Information Center provides resources and support for individuals and families affected by congenital afibrinogenemia. In addition to general information about the condition, GARD offers information on genetics, clinical trials, advocacy groups, and more.

For additional scientific information, research articles, and references on congenital afibrinogenemia, GARD recommends consulting OMIM and PubMed. These databases provide comprehensive information on genes, inheritance, studies, and other related topics.

Learn more about congenital afibrinogenemia and other rare diseases at the Genetic and Rare Diseases Information Center.

Resources:

– Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/3152/congenital-afibrinogenemia
– OMIM: https://www.omim.org/entry/202400
– PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=congenital%20afibrinogenemia

Patient Support and Advocacy Resources

Congenital afibrinogenemia is a rare genetic condition caused by genetic mutations in the FGA, FGB, or FGG genes. The lack of functional fibrinogen in affected individuals leads to a predisposition to bleeding, especially after trauma or surgery.

If you or a loved one has been diagnosed with congenital afibrinogenemia, it is important to seek support and advocacy resources to better understand the condition and access appropriate care. Here are some resources that may be helpful:

Casini Register – The Casini Register is an international database of patients with congenital fibrinogen disorders, including afibrinogenemia. It provides valuable information on patients, genetic testing, and clinical trials. You can find more information at www.casini-register.com.
PubMed – PubMed is a database of scientific research articles. You can search for articles on congenital afibrinogenemia and related topics to learn more about the condition. Visit pubmed.ncbi.nlm.nih.gov for more information.
OMIM – OMIM is a comprehensive database of human genetic disorders. It provides detailed information on the genes, inheritance patterns, and clinical features of various diseases, including congenital afibrinogenemia. You can access the database at www.omim.org.
Thromb>Genes – Thromb>Genes is a database that catalogs genes associated with thrombosis and related disorders. It includes information on the genes involved in congenital afibrinogenemia. You can learn more at thrombosisgenes.org.
ClinicalTrials.gov – ClinicalTrials.gov is a registry of clinical studies conducted around the world. You can search for ongoing clinical trials related to congenital afibrinogenemia to see if you or your loved one may be eligible to participate. Visit www.clinicaltrials.gov for more information.

Research Studies from ClinicalTrialsgov

Congenital afibrinogenemia is a rare genetic condition characterized by the deficiency or complete absence of fibrinogen, a protein involved in blood clotting. This condition is caused by mutations in the genes that are responsible for producing fibrinogen.

Research studies from ClinicalTrialsgov provide valuable information about ongoing and completed clinical trials and studies related to congenital afibrinogenemia. These studies aim to further understand the causes, inheritance patterns, associated diseases, and frequency of this rare genetic condition.

Studies conducted by Neerman-Arbez and Casini have focused on the genetic basis and inheritance patterns of congenital afibrinogenemia. By studying specific genes and their mutations, these researchers have gained insights into the mechanisms underlying this condition and its associated symptoms.

Furthermore, research from ClinicalTrialsgov has provided support for genetic testing of newborns to identify cases of congenital afibrinogenemia early on. This allows for prompt medical interventions and management to prevent complications related to bleeding.

In addition to scientific research, ClinicalTrialsgov also provides resources for advocacy groups and organizations supporting individuals and families affected by congenital afibrinogenemia. These resources may include patient support groups, information about available treatment options, and updates on the latest research developments.

For more information about congenital afibrinogenemia, you can visit OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain a catalog of scientific articles, references, and additional information about this rare genetic condition.

In summary, research studies from ClinicalTrialsgov offer valuable insights into the causes, associated diseases, and genetic basis of congenital afibrinogenemia. These studies provide important support for genetic testing, newborn screening, and the provision of resources for individuals and families affected by this rare condition.

Catalog of Genes and Diseases from OMIM

Congenital afibrinogenemia is a rare genetic condition characterized by a deficiency of fibrinogen, a protein essential for blood clotting. It is inherited in an autosomal recessive pattern, meaning that both parents must pass on a copy of the mutated gene for the condition to occur.

Patient support and advocacy groups, such as the Neerman-Arbez Congenital Fibrinogen Deficiency Center, provide additional resources and information for patients and their families.

Research studies and clinical trials may be available for patients with this rare condition. More information about ongoing studies can be found on the ClinicalTrials.gov website.

The OMIM catalog is a comprehensive resource that provides information on genes and genetic diseases. Here are some genes and diseases associated with congenital afibrinogenemia:

Gene	Disease	Inheritance
FGB	Afibrinogenemia, congenital	Autosomal recessive
FGA	Fibrinogen deficiency, congenital	Autosomal recessive
FGG	Fibrinogen deficiency, congenital	Autosomal recessive

For more information about these genes and diseases, please visit the OMIM website and search for the specific gene or disease name.

Scientific articles and research studies related to congenital afibrinogenemia can also be found on PubMed. These articles provide additional information on the condition, its causes, and treatment options. Search for “congenital afibrinogenemia” on PubMed to access these articles.

Scientific Articles on PubMed

Congenital afibrinogenemia is a rare genetic condition characterized by the complete absence of fibrinogen, a protein essential for blood clotting. This condition is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for a person to have the condition.

For newborns with congenital afibrinogenemia, the lack of fibrinogen can lead to serious bleeding episodes, including spontaneous bleeding into joints and muscles. It can also result in excessive bleeding during surgery or injury. Without treatment, these bleeding episodes can be life-threatening.

Scientific articles on PubMed provide valuable information about the genetic causes, clinical manifestations, and management of congenital afibrinogenemia. These articles include studies that have identified the genes associated with the condition, as well as research on genetic testing and counseling for affected individuals and their families.

One study by Neerman-Arbez and Casini cataloged the different genetic mutations that can cause congenital afibrinogenemia, allowing for more accurate genetic testing and diagnosis for affected individuals. Other articles discuss the frequency of this rare condition and its inheritance patterns.

In addition to research articles, PubMed also provides resources for patient support and advocacy organizations related to congenital afibrinogenemia. These organizations offer information about the condition, as well as opportunities for patients and their families to connect with others who are affected.

ClinicalTrials.gov, a resource linked to PubMed, lists ongoing clinical trials for congenital afibrinogenemia. These trials aim to investigate new treatments and therapies for the condition, further advancing our understanding and management of this rare genetic bleeding disorder.

Learn more about congenital afibrinogenemia and find scientific articles on PubMed by searching using keywords like “congenital afibrinogenemia,” “fibrinogen deficiency,” or “rare genetic bleeding disorder.” The PubMed database is a valuable tool for accessing the latest research and information on this condition.

References:

Neerman-Arbez M, Casini A. Clinical manifestations and management of congenital fibrinogen deficiencies. Semin Thromb Hemost. 2016;42(4):366-374.
Casini A, Neerman-Arbez M. Clinical features and management of congenital fibrinogen deficiencies. Expert Rev Hematol. 2013;6(3):312-322.
Centers for Disease Control and Prevention. Congenital Fibrinogen Deficiency. Available from: https://www.cdc.gov/ncbddd/spanish/blooddisorders/afibrinogenemia.html. Accessed October 16, 2021.
World Federation of Hemophilia. Afibrinogenemia. Available from: https://www.wfh.org/en/abd/treatment/bleeding-disorders-with-factor-deficiencies/afibrinogenemia. Accessed October 16, 2021.

References

Neerman-Arbez, M. (2020). Congenital afibrinogenemia. GeneReviews® [Internet]. University of Washington, Seattle. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1300/.
Casini, A., Neerman-Arbez, M. (2018). Clinical features and management of congenital fibrinogen disorders. Seminars in Thrombosis and Hemostasis, 44(4), 331-339. doi: 10.1055/s-0038-1657777.
OMIM® Online Mendelian Inheritance in Man®. Entry #202400 – Fibrinogen Deficiency, Congenital. Available from: https://omim.org/entry/202400.
ClinicalTrials.gov. Search results for “congenital afibrinogenemia”. Available from: https://clinicaltrials.gov/ct2/results?cond=congenital+afibrinogenemia.

Frequency

Causes

Learn more about the genes associated with Congenital afibrinogenemia

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

MITF gene

Refsum disease

Microcephaly seizures and developmental delay

Frequency

Causes

Learn more about the genes associated with Congenital afibrinogenemia

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

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