Amyloid polyneuropathy caused by wild‐type transthyretin
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Citations
Current and future treatment of amyloid diseases.
Neuropathy Associated with Systemic Amyloidosis.
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
Familial transthyretin amyloidosis
How your ears can tell what is hidden in your heart: wild-type transthyretin amyloidosis as potential cause of sensorineural hearing loss inelderly-AmyloDEAFNESS pilot study.
References
Tafamidis for transthyretin familial amyloid polyneuropathy A randomized, controlled trial
Repurposing Diflunisal for Familial Amyloid Polyneuropathy A Randomized Clinical Trial
Frequency and distribution of senile cardiovascular amyloid: A clinicopathologic correlation
Senile Systemic Amyloidosis Presenting With Heart Failure A Comparison With Light Chain-Associated Amyloidosis
THAOS – The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis
Related Papers (5)
THAOS – The Transthyretin Amyloidosis Outcomes Survey: initial report on clinical manifestations in patients with hereditary and wild-type transthyretin amyloidosis
Frequently Asked Questions (12)
Q2. What is the predominant disease in SSA?
Cardiac disease predominates in SSA, namely atrial fibrillation, cardiac conduction abnormalities, and hypertrophic cardiomyopathy.
Q3. What is the preferred initial diagnostic test for senile amyloidosis?
When systemic amyloidosis is suspected, fat pad biopsy may be the preferred initial diagnostic test, with a sensitivity of up to 80%, and relative ease and safety of the procedure.
Q4. What is the cause of the senile systemic amyloidosis?
Small-diameter sensory fibers tend to be affected first, and neuropathic pain is often prominent, but eventually all sensory and motor fibers as well as the peripheral autonomic nervous system are affected.
Q5. What is the common type of amyloidosis?
In particular, oral treatment with tafamadis and diflunisal, agents that stabilize the TTR tetramer and thus prevent the monomer from forming amyloid, was shown to be effective in stage III clinical trials.
Q6. What was the result of the blood test?
despite having a gammopathy on serum testing, light chain staining on immunohistochemistry was negative, ruling out primary systemic amyloidosis.
Q7. What was the diagnosis of the patient?
Although the patient had a family history of polyneuropathy, genetic testing revealed that she had a nonfamilial form of amyloidosis.
Q8. What is the diagnosis of senile systemic amyloidosis?
This syndrome, known as senile systemic amyloidosis (SSA), is seen primarily in elderly men, although it can begin at a younger age; it is estimated to occur in up to 25% of individuals older than 80.
Q9. What is the acronym for Amyloid Polyneuropathy?
Amyloid Polyneuropathy 9Abbreviations transthyretin (TTR), senile systemic amyloidosis (SSA), Transthyretin Amyloidosis Outcomes Survey (THAOS), compound muscle action potential (CMAP)Amyloid Polyneuropathy 10
Q10. What is the common type of amyloidosis in SSA?
19Although liver transplantation is ordinarily not a therapeutic option in SSA because of the advanced age of most patients, new treatments are being introduced.
Q11. What is the common diagnosis of SSA?
In this case, the patient had the classic presentation of a painful, severe, and rapidly progressive polyneuropathy without a plausible alternative explanation and with evidence of system amyloid involvement, making amyloid polyneuropathy the most compatible diagnosis.
Q12. What is the percentage of wild-type TTR in late-onset cases?
the amyloid fibrils in hereditary TTR amyloidosis contain both mutant and wild-type TTR, and the percentage of wildtype TTR is higher (50%) in late-onset cases than in early-onset cases (30%).