Oesophageal dysfunction in familial amyloidosis with polyneuropathy

Bjerle, Per; Ek, B.; Linderholm, Håkan; Steen, Lars

doi:10.1111/j.1475-097x.1993.tb00317.x

Cited by 17 publications

(5 citation statements)

References 11 publications

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“…Gastroparesis is generally attributed to autonomic dysfunction, but the actual role of the efferent sympathetic and parasympathetic autonomic system is not clear. An autopsy study revealed pronounced amyloid infiltration and destruction of the vagal nerve and ganglion [20], and a study of oesophageal function noted motility disturbances that were attributable to vagal dysfunction [21]. However, in a study of gastric emptying, the relationship with vagal activity, measured by heart rate variability (HRV), was poor [2].…”

Section: Commentsmentioning

confidence: 99%

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Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis

Obici

Suhr

2019

Clin Auton Res

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Purpose To review the management of gastrointestinal symptoms in patients with hereditary transthyretin amyloidosis, discussing diagnostic evaluations, assessment of disease progression and therapeutic strategies that could be implemented in routine practice. Methods Literature review. Key search terms included "gastrointestinal symptoms", "autonomic neuropathy", "hereditary transthyretin amyloidosis" and "familial amyloid polyneuropathy". Results Gastrointestinal disturbances are a common and serious manifestation of hereditary transthyretin amyloidosis, with significant effects on patients' quality of life and demonstrating a strong association with mortality. Gastrointestinal involvement is more often subclinical in the early stages of the disease, although in some patients gastric and/or bowel abnormalities may be the inaugural symptoms. In both cases, under-recognition, delayed investigation and suboptimal treatment frequently occur. A clear understanding of the mechanisms underlying gastrointestinal dysfunction in hereditary transthyretin amyloidosis is still lacking, but similar to diabetic enteropathy, multiple pathophysiological alterations seem to play a role. Conclusions Early detection and treatment of gastrointestinal disturbances is key to the successful treatment of this devastating disease. Gastroenterologists play a valuable role in both the diagnosis and the timely management of gastrointestinal symptoms in hereditary transthyretin amyloidosis and should, therefore, be part of a multidisciplinary and comprehensive approach to this disorder.

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Section: Commentsmentioning

confidence: 99%

“…A high frequency of abnormal oesophageal motility, even in asymptomatic patients, has been reported in a small series [21]. However, the role of oesophageal, as well as intestinal motility investigations in the evaluation of ATTRv patients GI disturbances remains to be established [1].…”

Section: Commentsmentioning

confidence: 99%

Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis

Obici

Suhr

2019

Clin Auton Res

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“…It is unclear whether the functional status was different between the patients with dysphagia and those without dysphagia. In a small ATTRV30M cohort, few patients without dysphagia also had esophageal dysfunction in esophageal manometry (Bjerle et al, 1993). Further study with detailed swallowing evaluation including symptoms and examinations in patients with ATTRv with different genotypes was needed.…”

Section: Discussionmentioning

confidence: 99%

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

Hsueh

Chao

Chang

et al. 2022

Front. Aging Neurosci.

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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.

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“…Connective tissue diseases, such as mixed connective tissue disease and scleroderma frequently involve the esophagus (38). In patients with familial amyloidosis, it is unlikely that amyloid deposits in the mucosal wall increase the esophageal “stiffness”, but an autonomic, predominantly vagal, denervation probably best explains the disturbed function (39). Similarly, there is a correlation between esophageal dysmotility and cardiovascular autonomic dysfunction (40).…”

Section: Swallowing and Peristalsismentioning

confidence: 99%

Mechanisms of Gastroesophageal Reflux and Gastroesophageal Reflux Disease

Vandenplas,

Hassall

2002

J. pediatr. gastroenterol. nutr.

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Gastroesophageal reflux is a physiological phenomenon, occurring with different severity and duration in different individuals. Reflux disease occurs when this normal event results in the occurrence of symptoms/signs or complications. The pathophysiology of gastroesophageal reflux is complex and diverse, since it is influenced by factors that are genetic, environmental (e.g., diet smoking), anatomic, hormonal, and neurogenic. However, many mechanisms remain incompletely understood. Future research should focus on a better understanding of the physiology of the upper and lower esophageal sphincters, and of gastric motility. The afferent and efferent neural pathways and neuropharmacologic mediators of transient lower esophageal sphincter relaxations and gastric dysmotility require further study. The role of anatomic malformations such as hiatal hernia in children has been underestimated.While therapeutic possibilities are greater in number and largely improved, the outcomes of some treatments are far from satisfactory in many cases. In addition to development of new forms of treatment, research should address better use of currently available medical and surgical treatments.

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Oesophageal dysfunction in familial amyloidosis with polyneuropathy

Cited by 17 publications

References 11 publications

Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis

Diagnosis and treatment of gastrointestinal dysfunction in hereditary TTR amyloidosis

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

Mechanisms of Gastroesophageal Reflux and Gastroesophageal Reflux Disease

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