Dr. Muhammad Zohaib Siddiq
Cardiology
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Patient's Query
Hello doctor,
I require a certified Cardiologist, not a standard General practitioner. My mother has cardiac amyloidosis. It was diagnosed recently, and I worry that the doctors do not know the type of amyloidosis. It can be inherited or acquired. We do not have heart problems in my family, my mother is 50 years old, and I am 27 years old and worried that I might have it. I have no symptoms at all and feel healthy. My questions are, if my family has zero heart problems, I guess this must be an acquired condition? What possibility do I have to acquire the disease from my mother if she did not inherit it from her parents and acquired the condition? I am really scared. Kindly advise for the same. Thank you.
Hello,
Welcome to icliniq.com.
First please tell how the cardiac amyloidosis was diagnosed? Was any endomyocardial biopsy performed? Is amyloidosis present in other organs too such as kidneys or lungs? Please share her biopsy, CMR (cardiovascular magnetic resonance) reports, and molecular tests reports. Hereditary amyloidosis is rare but is autosomal dominant and theoretically it is transmitted to around 50% of the offspring. Thank you.
Patient's Query
Hello doctor,
Thank you for your reply. The reports say, " Findings are suggestive of ATTR. " Since hereditary amyloidosis is rare but is autosomal dominant, theoretically, it is transmitted to 50% of the offspring. Does it mean I have a 50% chance of suffering from it? The report did not specify which ATTR it is, hereditary or wild-type? Kindly reply. Thank you.
Hello,
Welcome back to icliniq.com.
If ATTR (transthyretin amyloidosis) is detected on biopsy, DNA mutational analysis is done to differentiate between senile and familial types. In the case of cardiac amyloidosis with heart failure symptoms, heart failure therapy is given. If she has breathlessness, get NT-proBNP (N-terminal pro-brain natriuretic peptide) levels done. In the case of familial ATTR, heart and liver transplantation is done with moderate success. Yes, in hereditary ATTR, genetic mutation is transmitted to 50% of children. This is the risk of mutation transmission, although each individual is different. In hereditary ATTR, symptoms appear after the age of 50 years. Do write back in case of more questions. Thank you.
Patient's Query
Hello doctor,
We got the NT-proBNP results. It was very high, around 4700 pg/ml and Bence jones protein was positive. How likely does she have cancer? Kindly answer. Thank you.
Hello,
Welcome back to icliniq.com.
Raised NT-proBNP suggests heart failure. Cardiac amyloidosis causes restrictive cardiomyopathy, and it can be assessed with echocardiography. If it is restrictive cardiomyopathy, medicines for heart failure can be started with caution as most heart failure medicines can worsen cardiac function if the heart rate is slowed or the patient is dehydrated. BJ (Bence-Jones) proteins are suggestive of blood cancer called multiple myeloma. A hematologist or oncologist can properly guide you about it. Do not hesitate to ask more questions. Thank you.
Patient's Query
Hello doctor,
Does BJ proteins always means cancer? Can it be caused to mark positive because of the amyloids? Kindly advise. Thank you.
Hello,
Welcome back to icliniq.com.
Yes, either multiple myeloma or some other types of blood cancers. Multiple myeloma can cause amyloidosis in some cases, but the opposite is rare. Yet there are some reports that BJ proteins can be detected in primary systemic amyloidosis (not cardiac). If you have any questions, you can go ahead and ask them. Thank you.
Patient's Query
Hello doctor,
This is sad news, and I feel heartbroken knowing my mother will soon die. If you have amyloidosis, do you always have multiple myeloma? Kindly answer. Thank you.
Hello,
Welcome back again to icliniq.com.
No amyloidosis does not mean one has multiple myeloma too. Cardiac amyloidosis is definitely diagnosed on biopsy only, and the type is analyzed on DNA mutational analysis. Please consult a hematologist or oncologist for Bence-Jones proteins. There are treatments available. Go ahead and ask any more questions which you have. Thank you.
Patient's Query
Hello doctor,
My mother has an appointment on monday for something like a bone marrow biopsy. Thank you.
Hello,
Welcome back again to icliniq.com.
The bone marrow biopsy is done for the diagnosis of multiple myeloma. If you have any further questions, do ask. Thank you.
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Cardiology
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