Management of gastrointestinal complications in hereditary transthyretin amyloidosis: a single-center experience over 40 years

ABSTRACT

Introduction: Hereditary transthyretin amyloidosis (ATTRm amyloidosis) is a rare disease caused by the deposition and accumulation of insoluble non-native transthyretin fibrils in the body. The disease inevitably results in widespread organ disruption, and poor life expectancy. The GI tract is one organ system vulnerable to disruption and, although the clinical presentation of the disease varies, GI involvement affects most patients with ATTRm amyloidosis.

Areas covered: This article presents our experience with diagnosing and treating the GI symptoms of ATTRm amyloidosis patients at our center over the last 40 years, in the Swedish clustering area of the disease. Our aim is to help other physicians to better manage GI complications in patients with this rare but widespread condition.

Expert commentary: GI symptoms are debilitating complications for ATTRm amyloidosis patients to experience, yet with the appropriate questioning and diagnosis methods, symptomatic treatments of these symptoms can be implemented to provide relief. Further, patients with fewer GI complications and a good nutritional status are also better candidates for liver transplantation which, in selected cases, is the best disease-modifying treatment of ATTRm amyloidosis to date.

KEYWORDS:

• Amyloidosis
• familial amyloid neuropathy
• gastric emptying
• gastrointestinal tract
• liver
• therapeutics
• transthyretin

Declaration of interest

Jonas Wixner has served as a lecturer for Pfizer Inc. and Alnylam Pharmaceuticals, and received grants from the Swedish Patients’ Organisation FAMY/AMYL and the Swedish Gastrointestinal Fund (Mag-tarmfonden). He is also a member of the scientific board for THAOS, which is sponsored by Pfizer Inc. Ole Suhr has served as a lecturer for Pfizer Inc. and Alnylam Pharmaceuticals, and received grants from the Swedish Patients’ Organisation FAMY/AMYL and the Swedish Heart-Lung Fund. He is also a member of the scientific board for THAOS, which is sponsored by Pfizer Inc. Intissar Anan has served as a lecturer for Pfizer Inc., and received grants from the Swedish Patients’ Organisation FAMY/AMYL. Rito Bergemann and Stora Djumaeva from GSK participated in the preparation of the manuscript and review of the drafts. Writing support was provided by Meer Basharat, of TVF Communications, which was funded by GSK. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

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Additional information

Funding

This paper was supported by funding from GlaxoSmithKline.