It is uncertain if it is useful to test for TTR gene mutations in patients with a typical presentation for chronic idiopathic axonal polyneuropathy (CIAP) and which are the distinguishing clinical features. (bvsalud.org)
Patients8
ATTRv-PN is likely underdiagnosed as patients might be misdiagnosed with idiopathic polyneuropathy. (bvsalud.org)
METHODS: We carried out a retrospective cohort study to assess the yield of TTR gene sequencing in patients with polyneuropathy and assessed if the identified patients with ATTRv-PN had a clinical presentation typical of CIAP. (bvsalud.org)
Additionally, we assessed which clinical features, including previously defined red flag symptoms, can differentiate between patients with CIAP and ATTRv-PN and assessed the performance of the TTR suspicion index. (bvsalud.org)
RESULTS: Out of 338 patients with polyneuropathy, 10 patients had a pathogenic TTR gene mutation (all p.Val50Met) and none had a clinical presentation typical of CIAP. (bvsalud.org)
Patients with ATTRv-PN more often had bilateral CTS, motor involvement of arms, cardiac involvement, family history suggestive of hATTRv, and autonomic symptoms than patients with CIAP. (bvsalud.org)
All patients with ATTRv-PN as well as 70% of patients with CIAP fulfilled the suspicion index. (bvsalud.org)
CONCLUSION: Routine TTR gene sequencing in patients with a typical presentation for CIAP is not useful. (bvsalud.org)
However, red flag symptoms can differentiate patients with ATTRv-PN from patients with CIAP. (bvsalud.org)
Chronic1
After months of pure fear of the unknown, I was diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP), a rare autoimmune disease that strips the myelin off of the nerves and wreaks havoc on body, mind, and spirit like a violent storm. (autoimmunewellness.com)
Unknown2
By definition, the cause of CIAP is unknown. (cochrane.org)
Why only half of the idiopathic peripheral polyneuropathy (IPN) patients develop neuropathic pain is unknown. (foundationforpn.org)
Evaluation1
CIAP is diagnosed in 10% to 25% of people referred for evaluation of polyneuropathy. (cochrane.org)
Therapy2
There have not been any randomised trials of drug therapy for CIAP. (cochrane.org)
We sought all randomised or quasi-randomised (alternate or other systematic treatment allocation) trials that examined the effects of any drug therapy in people with CIAP at least one year after the onset of treatment. (cochrane.org)