Scott syndrome: Difference between revisions
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[[File:Autosomal_recessive_-_en.svg| | {{SI}} | ||
{{Infobox medical condition | |||
| name = Scott syndrome | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Scott syndrome is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Hematology]] | |||
| symptoms = [[Bleeding disorder]], impaired [[blood coagulation]] | |||
| onset = | |||
| duration = | |||
| types = | |||
| causes = Genetic mutation | |||
| risks = | |||
| diagnosis = [[Coagulation tests]], [[genetic testing]] | |||
| differential = Other bleeding disorders | |||
| prevention = | |||
| treatment = [[Blood transfusion]], [[platelet transfusion]] | |||
| medication = | |||
| prognosis = | |||
| frequency = Very rare | |||
| deaths = | |||
}} | |||
'''Scott syndrome''' is a rare inherited [[bleeding disorder]] characterized by a defect in the ability of [[platelets]] to promote [[blood clotting]]. This condition is named after the first reported patient, who was identified in the 1970s. | |||
==Pathophysiology== | ==Pathophysiology== | ||
In individuals with Scott syndrome, the platelets fail to externalize [[phosphatidylserine]] on their surface in response to activation. This externalization is crucial for the assembly of the [[prothrombinase complex]], which is necessary for the conversion of [[prothrombin]] to [[thrombin]], a key step in the [[coagulation cascade]]. The defect in Scott syndrome is typically due to mutations in the [[ANO6]] gene, which encodes the protein [[anoctamin-6]]. | In individuals with Scott syndrome, the platelets fail to externalize [[phosphatidylserine]] on their surface in response to activation. This externalization is crucial for the assembly of the [[prothrombinase complex]], which is necessary for the conversion of [[prothrombin]] to [[thrombin]], a key step in the [[coagulation cascade]]. The defect in Scott syndrome is typically due to mutations in the [[ANO6]] gene, which encodes the protein [[anoctamin-6]]. | ||
==Clinical Features== | ==Clinical Features== | ||
Patients with Scott syndrome often present with mild to moderate bleeding tendencies. Common symptoms include: | Patients with Scott syndrome often present with mild to moderate bleeding tendencies. Common symptoms include: | ||
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* Excessive bleeding after surgery or trauma | * Excessive bleeding after surgery or trauma | ||
* Menorrhagia in women | * Menorrhagia in women | ||
==Diagnosis== | ==Diagnosis== | ||
The diagnosis of Scott syndrome is based on clinical evaluation, family history, and specialized laboratory tests. These tests may include: | The diagnosis of Scott syndrome is based on clinical evaluation, family history, and specialized laboratory tests. These tests may include: | ||
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* Flow cytometry to assess phosphatidylserine exposure | * Flow cytometry to assess phosphatidylserine exposure | ||
* Genetic testing for mutations in the ANO6 gene | * Genetic testing for mutations in the ANO6 gene | ||
==Management== | ==Management== | ||
There is no cure for Scott syndrome, and treatment is primarily supportive. Management strategies may include: | There is no cure for Scott syndrome, and treatment is primarily supportive. Management strategies may include: | ||
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* Platelet transfusions in cases of severe bleeding | * Platelet transfusions in cases of severe bleeding | ||
* Hormonal therapy for menorrhagia | * Hormonal therapy for menorrhagia | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with Scott syndrome is generally good, with most patients experiencing mild to moderate bleeding episodes that can be managed with appropriate medical care. | The prognosis for individuals with Scott syndrome is generally good, with most patients experiencing mild to moderate bleeding episodes that can be managed with appropriate medical care. | ||
==See also== | |||
== | |||
* [[Bleeding disorder]] | * [[Bleeding disorder]] | ||
* [[Platelet]] | * [[Platelet]] | ||
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* [[Phosphatidylserine]] | * [[Phosphatidylserine]] | ||
* [[ANO6]] | * [[ANO6]] | ||
==See Also== | ==See Also== | ||
* [[Hemophilia]] | * [[Hemophilia]] | ||
* [[Von Willebrand disease]] | * [[Von Willebrand disease]] | ||
* [[Glanzmann's thrombasthenia]] | * [[Glanzmann's thrombasthenia]] | ||
==References== | ==References== | ||
{{Reflist}} | {{Reflist}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Hematology]] | [[Category:Hematology]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{medicine-stub}} | {{medicine-stub}} | ||
Latest revision as of 15:53, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Scott syndrome | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Hematology |
| Symptoms | Bleeding disorder, impaired blood coagulation |
| Complications | N/A |
| Onset | |
| Duration | |
| Types | |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Coagulation tests, genetic testing |
| Differential diagnosis | Other bleeding disorders |
| Prevention | |
| Treatment | Blood transfusion, platelet transfusion |
| Medication | |
| Prognosis | |
| Frequency | Very rare |
| Deaths | |
Scott syndrome is a rare inherited bleeding disorder characterized by a defect in the ability of platelets to promote blood clotting. This condition is named after the first reported patient, who was identified in the 1970s.
Pathophysiology[edit]
In individuals with Scott syndrome, the platelets fail to externalize phosphatidylserine on their surface in response to activation. This externalization is crucial for the assembly of the prothrombinase complex, which is necessary for the conversion of prothrombin to thrombin, a key step in the coagulation cascade. The defect in Scott syndrome is typically due to mutations in the ANO6 gene, which encodes the protein anoctamin-6.
Clinical Features[edit]
Patients with Scott syndrome often present with mild to moderate bleeding tendencies. Common symptoms include:
- Easy bruising
- Prolonged bleeding from minor cuts
- Excessive bleeding after surgery or trauma
- Menorrhagia in women
Diagnosis[edit]
The diagnosis of Scott syndrome is based on clinical evaluation, family history, and specialized laboratory tests. These tests may include:
- Platelet function tests
- Flow cytometry to assess phosphatidylserine exposure
- Genetic testing for mutations in the ANO6 gene
Management[edit]
There is no cure for Scott syndrome, and treatment is primarily supportive. Management strategies may include:
- Avoidance of medications that can exacerbate bleeding
- Use of antifibrinolytic agents
- Platelet transfusions in cases of severe bleeding
- Hormonal therapy for menorrhagia
Prognosis[edit]
The prognosis for individuals with Scott syndrome is generally good, with most patients experiencing mild to moderate bleeding episodes that can be managed with appropriate medical care.
See also[edit]
See Also[edit]
References[edit]
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