
I Am Looking For A Genetic Disorder That Would Hsve

Question: i am looking for a genetic disorder that would hsve clinical symptoms with elevated d-dimer, elevated vWF collagen binding, elevated vWF, elevated ch50. My father, myself and my brother all have these clinical symptoms. They suffer from memory problems, headaches. i have leg pains and headaches. we have seen many physicians with no answers.
Brief Answer:
The clinical features are investigations likely to be due to TTP
Detailed Answer:
Hello,
Thanks for posting your query on HealthcareMagic.
Genetic disorder characterized by elevated d-dimer, elevated vWF and clinical symptoms of headache and leg pains is likely to be Thrombotic thrombocytopenia prupura (TTP).
TTP is a microangiopathic hemolytic anemia characterised by fragmented red blood cells in peripheral blood smear and tendency to form micro thrombi in flowing blood.
I suggest you to get molecular test for ADAMTS13 to confirm the diagnosis.
In case you have more queries, I will be glad to answer.
Thanks and take care
Dr Shailja Puri
The clinical features are investigations likely to be due to TTP
Detailed Answer:
Hello,
Thanks for posting your query on HealthcareMagic.
Genetic disorder characterized by elevated d-dimer, elevated vWF and clinical symptoms of headache and leg pains is likely to be Thrombotic thrombocytopenia prupura (TTP).
TTP is a microangiopathic hemolytic anemia characterised by fragmented red blood cells in peripheral blood smear and tendency to form micro thrombi in flowing blood.
I suggest you to get molecular test for ADAMTS13 to confirm the diagnosis.
In case you have more queries, I will be glad to answer.
Thanks and take care
Dr Shailja Puri
Above answer was peer-reviewed by :
Dr. Yogesh D


my fathers adamts13 was elevated greater than 10%25. mine was normal. my brother was not checked. we%E2%80%99re were told a elevated level is of no concern and of no Diagnostic use. should i seek a second opinion?

Not sure why the symbols have shown up but I%E2%80%99ll start over.
My fathers adamts13 level is elevated greater than 10%25. My adamts13 is within normal range. My brother did not have his level checked. We were told that an elevated adamts13 level is of no concern or diagnostic value. Do you believe that the elevated level coincide with the elevated vWF levels?
With this information that you%E2%80%99ve been given are you fairly confident that this is some type of clotting disorder ?
FYI my father has had 13 years of diagnostic testing. MRI%E2%80%99s, MRA, CT%E2%80%99s, pet scans, 3 spinal taps, and blood test to numerous to count. These are the only levels that have recently been tested and to show a clue. He also has had continuous low red blood cells, hematocrit and hemoglobins(only slightly low). Normal platelet level .
His scans show small vessels disease consistent with age. All of his scans always show sinus disease, sinus retention cyst and an orbital wall blowout. Could these possibly be sinus thrombosis or micro strokes?
My fathers adamts13 level is elevated greater than 10%25. My adamts13 is within normal range. My brother did not have his level checked. We were told that an elevated adamts13 level is of no concern or diagnostic value. Do you believe that the elevated level coincide with the elevated vWF levels?
With this information that you%E2%80%99ve been given are you fairly confident that this is some type of clotting disorder ?
FYI my father has had 13 years of diagnostic testing. MRI%E2%80%99s, MRA, CT%E2%80%99s, pet scans, 3 spinal taps, and blood test to numerous to count. These are the only levels that have recently been tested and to show a clue. He also has had continuous low red blood cells, hematocrit and hemoglobins(only slightly low). Normal platelet level .
His scans show small vessels disease consistent with age. All of his scans always show sinus disease, sinus retention cyst and an orbital wall blowout. Could these possibly be sinus thrombosis or micro strokes?
Brief Answer:
Small vessel disease can cause thrombosis or stroke
Detailed Answer:
Hello and welcome again,
The small vessel disease needs to be investigated to look for possible cause.
Small vessel disease is associated with thrombosis or stroke.
The features on scan can be due to sinus thrombosis.
D-dimer will be raised in case of thrombosis.
Thanks and take care
Dr Shailja Puri
Small vessel disease can cause thrombosis or stroke
Detailed Answer:
Hello and welcome again,
The small vessel disease needs to be investigated to look for possible cause.
Small vessel disease is associated with thrombosis or stroke.
The features on scan can be due to sinus thrombosis.
D-dimer will be raised in case of thrombosis.
Thanks and take care
Dr Shailja Puri
Note: Do you have more questions on diagnosis or treatment of blood disorders? Ask An Expert/ Specialist Now
Above answer was peer-reviewed by :
Dr. Yogesh D

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