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Good Day. I Would Like To Know What The Clinical
Question: Good Day. I would like to know what the clinical diagnostics steps are in diagnosing Upshaw Schulman syndrome? What laboratory test would be ordered.
Brief Answer:
Upshaw–Schulman syndrome (USS)-DIAGNOSTIC TESTS.
Detailed Answer:
Hi....
Welcome to "Ask a Doctor" service.
I am Dr Ajeet XXXXXXX
I have gone through your query and here is my opinion.
Upshaw–Schulman syndrome (USS) is A genetic disorder which is recessively inherited.
It is rare in community.
It is caused by the absence of the an enzyme called ADAMTS13 protease resulting in the acute thrombotic microangiopathy with disseminated coagulation and obstruction of blood vessels causing end organ failure.
There is no single conclusive test to diagnose this syndrome but diagnosis of US Syndrome is done by...
1.Clinical symptoms
2.Thrombocytopenia (Decreased platelet count in CBC)
3.High level of suspecion
4.PBF- Showing schistocytes
5.PBF- showing hemolytic anemia
6.Hemolysis markers are elevated (Total Bilirubin,Serum LDH,Free hemoglobin etc)
7.Direct coomb's test -Negative
8.Blood test showing severely deficient ADAMTS13 activity (less than 10% of normal.
9.ELISA test showing antibodies against ADAMTS13.
Hope that I have answered your query.
Stay healthy.
Regards.
Upshaw–Schulman syndrome (USS)-DIAGNOSTIC TESTS.
Detailed Answer:
Hi....
Welcome to "Ask a Doctor" service.
I am Dr Ajeet XXXXXXX
I have gone through your query and here is my opinion.
Upshaw–Schulman syndrome (USS) is A genetic disorder which is recessively inherited.
It is rare in community.
It is caused by the absence of the an enzyme called ADAMTS13 protease resulting in the acute thrombotic microangiopathy with disseminated coagulation and obstruction of blood vessels causing end organ failure.
There is no single conclusive test to diagnose this syndrome but diagnosis of US Syndrome is done by...
1.Clinical symptoms
2.Thrombocytopenia (Decreased platelet count in CBC)
3.High level of suspecion
4.PBF- Showing schistocytes
5.PBF- showing hemolytic anemia
6.Hemolysis markers are elevated (Total Bilirubin,Serum LDH,Free hemoglobin etc)
7.Direct coomb's test -Negative
8.Blood test showing severely deficient ADAMTS13 activity (less than 10% of normal.
9.ELISA test showing antibodies against ADAMTS13.
Hope that I have answered your query.
Stay healthy.
Regards.
Above answer was peer-reviewed by :
Dr. Vaishalee Punj
thank you for the information. one last question. you said there is an absence of the Adamts13 enzyme. is that a required absence? would you ever see an elevated adamts13? great than 10%25 elevation. along with other symptoms of course.
Brief Answer:
Upshaw–Schulman syndrome (USS)-
Detailed Answer:
Welcome back....
There have been multiple schools of thought regarding the level of ADAMTS13 activity called as a “severe” deficiency,about sensitivity and specificity of ADAMTS13 deficiency for the diagnosis of USS,can patients have this syndrome without a severe deficiency of this enzyme,can patients not having this syndrome have a severe deficiency of this enzyme,is there another marker except this enzyme deficiency which is pathognomic to establish or exclude the diagnosis of USS.
As per medical research ,an enzyme ADAMTS13 activity level of less than 10% has been set to define severe deficiency and to SUPPORT a diagnosis of USS.
A low level of this enzyme is the critical element present in almost all the patients of USS.
An elevated enzyme levels are clinically irrelevant and does not support a diagnosis of USS but does not totally exclude it.
The enzyme levels should not be read as an isolated identity and should be read in context of clinical symptoms and clinical judgement.
Happy living.
Regards.
Upshaw–Schulman syndrome (USS)-
Detailed Answer:
Welcome back....
There have been multiple schools of thought regarding the level of ADAMTS13 activity called as a “severe” deficiency,about sensitivity and specificity of ADAMTS13 deficiency for the diagnosis of USS,can patients have this syndrome without a severe deficiency of this enzyme,can patients not having this syndrome have a severe deficiency of this enzyme,is there another marker except this enzyme deficiency which is pathognomic to establish or exclude the diagnosis of USS.
As per medical research ,an enzyme ADAMTS13 activity level of less than 10% has been set to define severe deficiency and to SUPPORT a diagnosis of USS.
A low level of this enzyme is the critical element present in almost all the patients of USS.
An elevated enzyme levels are clinically irrelevant and does not support a diagnosis of USS but does not totally exclude it.
The enzyme levels should not be read as an isolated identity and should be read in context of clinical symptoms and clinical judgement.
Happy living.
Regards.
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Above answer was peer-reviewed by :
Dr. Vaishalee Punj
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