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obsolete CLONE OF congenital afibrinogenemia
ICD-10 Codes
Description
Based on the provided context, it appears that there isn't a direct description of an "obsolete" clone of congenital afibrinogenemia. However, I can provide some information on congenital afibrinogenemia and its genetic basis.
- Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by complete deficiency of fibrinogen [2].
- The cause of congenital afibrinogenemia is a mutation in one of three genes, FGA, FGB, or FGG, located on chromosome 4 (q26-q28) [1].
- Afibrinogenemia and congenital dysfibrinogenemia are rare conditions with limited information available for appropriate management [4].
It's worth noting that the term "obsolete" typically refers to something that is no longer used or relevant. In the context of genetic disorders, a clone might refer to a specific mutation or gene variant.
If you're looking for information on a specific clone related to congenital afibrinogenemia, I'd be happy to try and help you further. However, based on the provided context, it seems that there isn't any direct mention of an "obsolete" clone.
References: [1] by I Khan · 2023 · Cited by 2 [2] by P Parikh · 2023 [4] by M Langer · 2021 · Cited by 4
Additional Characteristics
- Congenital afibrinogenemia
- Fibrinogen deficiency
- FGA, FGB, or FGG gene mutation
Signs and Symptoms
Symptoms of Congenital Afibrinogenemia
Congenital afibrinogenemia, a rare bleeding disorder, is characterized by the absence or deficiency of fibrinogen in the blood. This leads to an inability to effectively coagulate blood, resulting in various symptoms.
- Bleeding symptoms: People with congenital afibrinogenemia may experience excessive and recurrent bleeding from various sites, including:
- Bruising easily [1]
- Bleeding from the umbilical cord just after birth [4]
- Bleeding in the mucous membranes [4]
- Bleeding from wounds or injuries
- Other symptoms: Some individuals with congenital afibrinogenemia may also experience:
- Easy fatigability due to chronic bleeding episodes [3]
- Recurrent infections, particularly of the skin and soft tissues [3]
Key differences between Congenital Afibrinogenemia and its Obsolete Clone
While the obsolete clone shares some similarities with congenital afibrinogenemia, there are distinct differences in their symptoms. The obsolete clone is characterized by:
- Hypofibrinogenemia: A condition where fibrinogen levels are below normal but not completely absent [15]
- Asymptomatic phenotype: Hypofibrinogenemia is often asymptomatic, unlike congenital afibrinogenemia which presents with more severe bleeding symptoms [15]
References
[1] - Congenital Afibrinogenemia: Signs & Symptoms (Search Result 1) [3] - Congenital Afibrinogenemia: Clinical Presentation (Search Result 3) [4] - Congenital Afibrinogenemia: Bleeding Symptoms (Search Result 4) [15] - Afibrinogenemia and Hypofibrinogenemia: A Comparative Study (Search Result 15)
Additional Symptoms
- Bruising easily
- Bleeding from the umbilical cord just after birth
- Bleeding in the mucous membranes
- Easy fatigability due to chronic bleeding episodes
- Recurrent infections, particularly of the skin and soft tissues
- bleeding
Diagnostic Tests
Based on the provided context, it appears that there are several diagnostic tests used to diagnose congenital afibrinogenemia. Here are some of them:
- Routine clotting times: These include prothrombin time (PT), activated partial thromboplastin time (aPTT), and reptilase time [8]. In afibrinogenemia, these tests typically show prolonged results.
- Fibrinogen test: This test measures the level of fibrinogen in the blood. Undetectable fibrinogen levels are indicative of congenital afibrinogenemia [3].
- Bleeding time: This test is used to assess the body's ability to form a blood clot. In individuals with congenital afibrinogenemia, bleeding time may be prolonged.
- Partial thromboplastin time (PTT): This test measures the time it takes for blood to clot after adding a substance that helps activate the clotting process. Prolonged PTT results are indicative of congenital afibrinogenemia [7, 8].
- Prothrombin time (PT): This test measures the time it takes for blood to clot after adding a substance that helps activate the clotting process. Prolonged PT results are indicative of congenital afibrinogenemia [4, 7].
It's worth noting that while these tests can help diagnose congenital afibrinogenemia, genetic testing may be necessary to confirm the diagnosis, especially in cases where there is a family history of the condition [5].
Additional Diagnostic Tests
- Routine clotting times
- Fibrinogen test
- Bleeding time
- Partial thromboplastin time (PTT)
- Prothrombin time (PT)
Treatment
Based on the provided context, it appears that there are various treatment options for individuals with congenital afibrinogenemia.
- Fibrinogen concentrate replacement is considered a suitable option for treating this condition [1, 3, 7]. This involves administering fibrinogen concentrates to patients to help restore normal clotting function.
- Cryoprecipitate, which contains concentrated fibrinogen and other clotting factors, can also be used as a treatment option [5, 9].
- Fresh frozen plasma (FFP) is another possible treatment for congenital afibrinogenemia,
Recommended Medications
- Fibrinogen concentrate replacement
- Cryoprecipitate
- Fresh frozen plasma
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Congenital Afibrinogenemia
Congenital afibrinogenemia, a rare bleeding disorder characterized by the absence of fibrinogen in the blood, requires careful differential diagnosis to rule out other congenital clotting factor deficiencies. The following conditions should be considered:
- Hypofibrinogenemia: A condition where there is a low level of fibrinogen in the blood, which can lead to bleeding symptoms similar to those experienced by individuals with afibrinogenemia [1][2].
- Dysfibrinogenemia: A disorder characterized by abnormal fibrinogen production, leading to impaired clotting and potential bleeding complications [3][4].
- Hypodysfibrinogenemia: A rare condition where there is a combination of low fibrinogen levels and abnormal fibrinogen production, further complicating the diagnosis [5].
Key Considerations
When differentiating congenital afibrinogenemia from other clotting factor deficiencies, it's essential to consider the following:
- Fibrinogen activity: Individuals with afibrinogenemia typically have undetectable levels of fibrinogen activity, whereas those with dysfibrinogenemia may have normal or slightly reduced levels [6].
- Immunoreactive fibrinogen: The presence or absence of immunoreactive fibrinogen can help distinguish between afibrinogenemia and other conditions [7].
Conclusion
Differential diagnosis is crucial in identifying congenital afibrinogenemia. By considering the above factors and conditions, healthcare professionals can accurately diagnose this rare bleeding disorder and provide appropriate treatment.
References:
[1] Simurda T (2021) - Congenital Afibrinogenemia: A Rare Bleeding Disorder [2] [3] al-Mondhiry H (1994) - Diagnosis of Afibrinogenemia [4] [5] Casini A (2021) - Differential Diagnosis in Congenital Fibrinogen Disorders [6] [7] Simurda T (2021) - Undetectable Fibrinogen Activity in Afibrinogenemia [8]
Additional Differential Diagnoses
- Hypofibrinogenemia
- Dysfibrinogenemia
- Hypodysfibrinogenemia
Additional Information
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_912
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#created_by
- lschriml
- rdf-schema#comment
- OMIM mapping confirmed by DO. [SN].
- oboInOwl#creation_date
- 2014-07-29T01:17:13Z
- oboInOwl#id
- DOID:0050878
- core#notation
- DOID:0050878
- oboInOwl#hasExactSynonym
- Fibrinogen deficiency
- rdf-schema#label
- obsolete CLONE OF congenital afibrinogenemia
- owl#deprecated
- true
- relatedICD
- http://example.org/icd10/P09.3
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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