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ATTR amyloidosis is a systemic, progressive, and potentially fatal disease that can be overlooked or misdiagnosed due to its non-specific and heterogeneous manifestations.2–6
ATTR amyloidosis causes TTR proteins to misfold and clump together in the form of fibrils.6 These fibrils deposit in the body’s organs and tissue, causing multisystem organ dysfunction that can encompass various pathologies, including:7
ATTR amyloidosis is frequently associated with a diverse clinical phenotype which is, in part, related to differences in genotype and ethnicity.8 ATTR amyloidosis can have different forms, with the hereditary form being one type.6
ATTRv amyloidosis is caused by mutations in the TTR gene. This form of ATTR amyloidosis is typically autosomal dominant, meaning that inheriting only one copy of the faulty gene can cause the condition. A new (de novo) mutation can also happen, but it is very rare.¹⁰
More than 120 mutations are known to cause ATTRv amyloidosis.¹⁰
The specific mutations in the TTR gene determine whether ATTRv amyloidosis is either predominantly linked to polyneuropathy (ATTRv–PN) or cardiomyopathy (ATTRv–CM).¹¹ In the UK, up to 29% of patients with ATTRv have a mixed phenotype, with neurological and cardiological symptoms and signs.8
Prevalence
The true prevalence of ATTRv amyloidosis may be higher than currently estimated, based on UK biobank data.14
Prognosis
*Derived from a systematic review and meta-analysis of 95 studies, published up to December 2021, reporting mortality outcomes in 18,238 patients with ATTR amyloidosis.16
*Based on a qualitative, non-interventional study in the US and Canada, investigating the symptoms and impact of ATTRv amyloidosis on patients’ function and well-being (N=14);17
†Based on the Transthyretin Amyloidosis Outcomes Survey (THAOS), a global, multicentre, longitudinal, observational survey which analysed data from 1579 patients with ATTRv amyloidosis and 160 patients with ATTRwt amyloidosis from 17 countries (largest contributors: Portugal, US, Italy, France, Germany, Brazil, Sweden, and Japan). Proportion of patients with GI symptoms (63%) pertain to patients with a TTR mutation.18
†Based on the Transthyretin Amyloidosis Outcomes Survey (THAOS), a global, multicentre, longitudinal, observational survey which analysed data from 1579 patients with ATTRv amyloidosis and 160 patients with ATTRwt amyloidosis from 17 countries (largest contributors: Portugal, US, Italy, France, Germany, Brazil, Sweden, and Japan). Proportion of patients with GI symptoms (63%) pertain to patients with a TTR mutation;18
‡As per a case study on a 43-year-old man with ATTRv amyloidosis with symptoms of bowel abnormalities, used as real-life evidence in a literature review on diagnostic investigations and therapeutic strategies for GI dysfunction in ATTRv amyloidosis.19
ATTRv-PN symptoms generally occur in adulthood, with the average onset at 30 years of age, although it can often occur in later life at around 50 years old or later.20 The condition also affects men and women of all ethinicities.11
Clinical manifestations can reveal multiorgan dysfunction and mixed presentation*
As ATTR amyloidosis affects multiple systems, it is key to watch out for the red flag signs and symptoms in order to identify patients with ATTRv amyloidosis early.8,22,23
*These clinical manifestations are variable, depending on specific mutation, patient population, and age.11
Patients with ATTRv amyloidosis can experience symptom onset around 3 years prior to diagnosis.24 Early clinical suspicion of ATTRv amyloidosis can lead to a timely diagnosis and prompt treatment, both of which can not only preserve the patient’s quality of life, but also influence life expectancy.8,25
Current ATTRv-PN median survival ranges anywhere between 5–15 years from diagnosis.15 ATTRv-PN diagnosed after the age of 50 (late-onset disease) typically reduces survival by approximately 10 years compared to those diagnosed before the age of 50 (mean survival 12.9 vs. 24.7 years, respectively).*26
ATTRv-PN should be suspected in patients with progressive and disabling polyneuropathy, particularly in elderly patients. The disease should also be considered in patients with neuropathy and >1 red flag symptom suggestive of multisystemic involvement.
Adapted from Conceição I, et al. J Peripher Nerv Syst. 201623 and Adams D, et al. J Neurol. 20213
Clinical suspicion of amyloid neuropathy3
Confirmation of ATTRv amyloidosis3
Adapted from Adams J, et al. J Neurol. 20213
*A systematic search of PubMed (1990–2019) identified 35 appropriate studies reporting survival data among individuals diagnosed with ATTR-PN, with a follow-up period for survival assessment of at least 5 years. Inclusion criteria required a minimum sample size of 10 participants. Survival was measured from a clearly defined baseline event, such as the onset of symptoms, diagnosis, or initiation of treatment. Median survival ranged from 0.5 to >25 years.²⁶
The options for managing ATTR amyloidosis have advanced from liver transplantation to more sophisticated, targeted therapies.28 Pharmacological approaches include focusing on reducing the production of, or stabilising, the TTR protein.29,30
Early diagnosis and disease-specific treatment are essential to caring for patients with ATTR amyloidosis; however, supportive care is also important to improve nutritional status, maintain exercise tolerance and capacity, and improve and maintain mental health.31
TTR SILENCERS: Reduce or ‘silence’ the production of TTR protein by inhibiting TTR gene expression upstream in the liver32
TTR STABILISERS: Enhance the stability of the circulating TTR tetrameric complex downstream, thereby preventing its dissociation into monomers that can form amyloid fibrils33
The NEURO-TTRansform clinical trial has demonstrated the efficacy and safety profile of WAINZUA, a gene silencer.1,30
ATTR=transthyretin amyloidosis; ATTRv=hereditary transthyretin amyloidosis; ATTRv-CM=hereditary transthyretin amyloidosis with cardiomyopathy; ATTRv-PN=hereditary transthyretin amyloidosis with polyneuropathy; ATTRwt-CM=wild-type transthyretin amyloidosis with cardiomyopathy; CIDP=chronic inflammatory demyelinating polyradiculoneuropathy; CM=cardiomyopathy; DNA=deoxyribonucleic acid; EMG=electromyelography; GI=gastrointestinal; HCP=healthcare professional; HF=heart failure; HFpEF=heart failure with preserved ejection fraction; hATTR=hereditary transthyretin amyloidosis; hATTR-PN=hereditary transthyretin amyloidosis with polyneuropathy; ISA=International Society of Amyloidosis; NCS=nerve conduction studies; OH=orthostatic hypotension; PN=polyneuropathy; TTR=transthyretin.
GB-62843 | November 2025
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