AMY DA site - i can identify - Video 5
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Primary care doctors are really the gatekeepers to this puzzle,
because they’re looking at the whole patient.
A primary care doctor should start thinking about cardiac amyloidosis,
AL amyloidosis, when they see signs of worsening heart failure,
worsening dyspnea on exertion,
worsening ascites and pedal edema,
along with signs of other organ involvement.
So, they will commonly see nephrotic syndrome— a lot of protein in the urine.
They will commonly see acquired Factor X deficiency.
They will see patients developing bruising under their eyes, so-called "raccoon eyes".
They will start noticing that a patient is getting light-headed when they stand up.
And then, they will start thinking about where to send the patient
and a lot of times they’ll refer the patient to a cardiologist or a nephrologist.
So, I think the primary care doctor actually is key to
an early diagnosis of cardiac amyloidosis
because they will be the first person to see this disease.
The other test that they might start doing is, you know,
looking for a plasma cell dyscrasia with serum-free light chains
and urine-free light chains, and things of that nature.
And, all of this can also be done in consultation with a haematologist.
But, the most important test, I think, for a primary care doctor to order
when somebody has worsening heart failure symptoms,
is an echocardiogram and an electrocardiogram, an ECG.
So, it is crucial that the primary care doctor considers
this diagnosis as an emergency
before organ dysfunction progresses and the organs fail.
The 75-year-old lady
who presented to primary care doctor with symptoms of
congestive heart failure with reduced exercise tolerance,
shortness of breath with exertion, and swelling of her legs.
The primary care doctor called me personally,
and asked what workup should be done, and I suggested her to get the
plasma cell dyscrasia markers done
and I would see her in my clinic.
The plasma cell dyscrasia markers were already obtained before
the patient came to my clinic,
and they were significantly abnormal; with elevated serum-free light chain levels,
as well as immunofixation, which was positive.
So, by the time the patient arrived in my clinic, which was three weeks later,
the patient already had the diagnosis of plasma cell dyscrasia
with infiltrative cardiomyopathy,
and I just needed to do an abdominal fat pad aspiration in my clinic
and subject it to Congo red staining, which came back as positive.
And, she has already begun treatment for her AL amyloidosis
within three weeks from her initial presentation.
So, this again speaks very highly of the primary care doctor,
who did not wait for the consult to go through electronic medical records,
to be seen by a doctor in cardiology, seen by a doctor in haematology,
seen by a doctor in echocardiography.
But, she took it upon herself to make the phone calls so that
her diagnosis was obtained in a timely fashion to
prevent further deterioration of her congestive heart failure and cardiac involvement.