Permanent dysphagia in familial amyloid polyneuropathy (ATTRVal30Met)

Monteiro, Cecília; Magalhães, Marina; Correia, Carlos; Taipa, Ricardo

doi:10.3109/13506129.2012.661806

Cited by 5 publications

(3 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…27 Dysphonia has been described in 22% of late onset ATTRV30M cases and dysphagia in 15%. 8,28,29 Several unexplored questions on clinical CNS involvement remain. There is a lack of studies that systematically evaluate risk factors, frequency, and spectrum of CNS symptoms and their prognostic implications, particularly in earlier stages of the disease.…”

Section: Glossarymentioning

confidence: 99%

CNS Involvement in Hereditary Transthyretin Amyloidosis

2021

Self Cite

View full text Add to dashboard Cite

Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is predominantly a disease of the peripheral nerves, heart, kidney, and eye. CNS involvement has been a marginal issue in research and the clinical setting until recently. Growing evidence shows that leptomeningeal amyloid accumulation is frequent and present from early stages of ATTRv amyloidosis. Several recent studies show CNS symptoms arise as a common late complication in patients with the V30M mutation after at least 14 years of symptomatic peripheral nerve disease. Conversely, in non-V30M patients, there are several descriptions, mostly case reports, of patients presenting with severe phenotypes of ocular and CNS dysfunction (oculoleptomeningeal amyloidosis), with little systemic involvement. This phenotype is found in rare families worldwide, associated with at least 14 mutations. In both patients with late and early onset CNS dysfunction, symptoms include transient focal neurologic episodes, hemorrhagic and ischemic stroke, cognitive decline, and cranial nerve dysfunction. Pathologically, there is severe amyloid deposition in the leptomeninges and cerebral amyloid angiopathy of leptomeningeal and penetrating vessels. These amyloid aggregates are formed mostly by CSF-produced transthyretin (TTR) and seem resistant to the available ATTRv therapies that increase the stability or reduce the production of plasma TTR. This indicates that CNS involvement will become a meaningful issue in patient management in upcoming years.

show abstract

Section: Glossarymentioning

confidence: 99%

CNS Involvement in Hereditary Transthyretin Amyloidosis

2021

Self Cite

View full text Add to dashboard Cite

show abstract

“…The A97S cohort had a unique symptom of dysphagia. Despite the report of this symptom (Ikeda et al, 1998;Obici and Suhr, 2019), dysphagia was not yet systemically examined in other genotypes (Monteiro et al, 2012). About half of the A97S patients had dysphagia, and dysphagia symptoms could be present at the early stage of ATTRv, which was rarely reported in other etiology of polyneuropathy.…”

Section: Discussionmentioning

confidence: 95%

Unique Phenotypes With Corresponding Pathology in Late-Onset Hereditary Transthyretin Amyloidosis of A97S vs. V30M

Hsueh

Chao

Chang

et al. 2022

Front. Aging Neurosci.

View full text Add to dashboard Cite

ObjectiveHereditary transthyretin amyloidosis (ATTRv) encompasses different phenotypes among various genotypes. The analysis of the natural history and risk factors of faster progression in different genotypes would refine the treatment strategy.MethodsThe clinical manifestations of ATTRv from A97S (p.A117S) of Taiwanese and late-onset V30M (p.V50M) of Japanese were compared. An autopsy study of A97S was performed.ResultsThere existed three unique features in the A97S cohort compared to the V30M cohort: (1) dysphagia, (2) carpal tunnel syndrome (CTS), and (3) onset age. First, dysphagia was common in A97S (53.4%) but not in V30M and served as a contributor to fast disease progression. All phases of swallowing were affected. In the autopsy pathology, there were extensive amyloid deposits in the viscera and nerves of the tongue, larynx, and esophagus. In A97S, 45 patients (43.3%) had a history of CTS before the onset of length-dependent symptoms by 3 years. The amyloid deposition was more prominent in the median nerve than that in the transverse carpal ligament. The onset age at different stages was younger in the A97S cohort than the V30M cohort by 4–5 years.ConclusionThese phenotypic characteristics together with autopsy pathology in A97S are distinct from V30M. Early dysphagia in A97S correlated with fast progression. In A97S, median neuropathy leading to CTS might be in a continuous spectrum of ATTRv course rather than an independent disease entity. Such observations may serve as a foundation to explore and analyze unique phenotypes among various genotypes.

show abstract

“…Dysphagia in amyloidosis can be caused by multiple factors, including neuromuscular dysfunction . In hereditary TTR‐related amyloidosis, dysphagia is well recognized and believed to be related to combined involvement of the cranial nerves and enteric nervous system . Endoscopic changes in amyloidosis can be variable and may include hyperemia, erosions, granularity, nodularity, and plaque‐like deposits but can also be normal macroscopically .…”

Section: Discussionmentioning

confidence: 99%

An unusual case of hereditary transthyretin‐related amyloidosis and ulcerative colitis in a young Indian girl

Sharma

Singh

et al. 2019

JGH Open

View full text Add to dashboard Cite

Hereditary transthyretin (TTR) amyloidosis is a multisystem disorder caused by extracellular amyloid deposition, usually presenting with neurological and cardiovascular involvement. Gastrointestinal involvement, if present, is usually in the form of motility symptoms like diarrhea, constipation, or diarrhea alternating with constipation. Presentations mimicking ulcerative colitis without other system involvement are rare. Here we present a case of a young female from northern India, who presented with blood‐admixed diarrhea without any feature of any other system involvement. She was diagnosed and treated as ulcerative colitis for two years with ambivalent response, although the compliance to therapy was also poor. She was re‐evaluated when she presented with recurrence of symptoms and new onset dysphagia. On evaluation, she was diagnosed as hereditary transthyrtetin related amyloidosis.

show abstract

Permanent dysphagia in familial amyloid polyneuropathy (ATTRVal30Met)

Cited by 5 publications

References 10 publications

CNS Involvement in Hereditary Transthyretin Amyloidosis

CNS Involvement in Hereditary Transthyretin Amyloidosis

Unique Phenotypes With Corresponding Pathology in Late-Onset Hereditary Transthyretin Amyloidosis of A97S vs. V30M

An unusual case of hereditary transthyretin‐related amyloidosis and ulcerative colitis in a young Indian girl

Contact Info

Product

Resources

About