Transthyretin amyloid cardiomyopathy (ATTR-CM) is a rare but serious heart condition caused by the accumulation of abnormal proteins (called “amyloid”) in the heart. If left untreated, ATTR-CM may lead to death.
The number of patients with ATTR-CM is believed to be under-estimated. This may result from an incorrect diagnosis, where symptoms of ATTR-CM are mistaken for general heart failure. Awareness of ATTR-CM is generally very low among general cardiologists and physicians; therefore, ATTR-CM is typically diagnosed by heart failure specialists in expert hospitals.
There is a lack of information around the current number of ATTR-CM patients worldwide. Hence, this study aims to understand the prevalence of ATTR-CM patients in the UK, including those with confirmed or possible diagnosis, using an anonymised primary care database (the Clinical Practice Research Datalink (CPRD)), which contains medical records of UK patients. Together with information from published studies, we aim to predict the overall number of patients with ATTR-CM in the UK.
ATTR-CM is a rare, debilitating and life-threatening disorder characterised by the accumulation of misfolded transthyretin (TTR) proteins as insoluble amyloid fibrils primarily in the heart. Symptoms of ATTR-CM resemble those of heart failure, including peripheral oedema, breathlessness, abnormal heart rhythms (atrial fibrillation or flutter) and palpitations, weight loss, nausea, syncope (dizziness and collapse), disrupted sleep, angina (chest pain) and fatigue. Depending on the presence or absence of genetic mutation, ATTR-CM is divided into two types: hereditary or mutant-type ATTR (hATTR-CM) and wild-type ATTR (wtATTR-CM).
The overall prevalence of ATTR-CM is believed to be under-estimated. Phenotypic variability of the disease and limited treatment options are known to be contributors to underdiagnosis, and actual prevalence rates are likely to be much higher than reported in the literature. The under-diagnosis of ATTR-CM may be attributed to several factors, including delayed diagnosis and lack of clinical expertise.
To address the paucity in data on the epidemiology of ATTR-CM, we aim to predict prevalence and incidence of ATTR-CM in the UK using published data and patient databases. As part of this work, the objective of the described analyses is to identify real world evidence through the Clinical Practice Research Datalink (CPRD) database to identify epidemiological evidence for ATTR-CM in the UK.
New and existing cases of ATTR-CM over the study period will be identified and characterised, and estimates of ATTR-CM incidence and prevalence estimated, using patient-level data from the Clinical Practice Research Datalink (CPRD) database.
Carmen Tsang - Chief Investigator - Pfizer Ltd - UK
Perry Elliott - Corresponding Applicant - University College Hospital
Ahsan Huda - Collaborator - Pfizer Inc - US Headquarters
Aidan Cooper - Collaborator - Health Economics & Outcomes Research Ltd ( HEOR Ltd )
Carissa Dickerson - Collaborator - Health Economics & Outcomes Research Ltd ( HEOR Ltd )
Jack Brownrigg - Collaborator - BioMarin Pharmaceutical Inc.
Jason Gordon - Collaborator - Health Economics & Outcomes Research Ltd ( HEOR Ltd )
Mamas Mamas - Collaborator - Keele University
Max Norman - Collaborator - Health Economics & Outcomes Research Ltd ( HEOR Ltd )
Nia Jenkins - Collaborator - Health Economics & Outcomes Research Ltd ( HEOR Ltd )
Vincenzo Leo - Collaborator - BioMarin Pharmaceutical Inc.
Vincenzo Leo - Collaborator - Pfizer Ltd - UK
Aidan Cooper - Collaborator - Health Economics & Outcomes Research Ltd ( HEOR Ltd )
Carissa Dickerson - Collaborator - Health Economics & Outcomes Research Ltd ( HEOR Ltd )
Harpreet Sarna - Collaborator - Pfizer Ltd - UK
Harpreet Sarna - Collaborator - Not from an Organisation
Jack Brownrigg - Collaborator - Pfizer Ltd - UK
Max Norman - Collaborator - Health Economics & Outcomes Research Ltd ( HEOR Ltd )
Michael Hurst - Collaborator - Health Economics & Outcomes Research Ltd ( HEOR Ltd )
Nia Jenkins - Collaborator - Health Economics & Outcomes Research Ltd ( HEOR Ltd )
HES Accident and Emergency;HES Admitted Patient Care;HES Diagnostic Imaging Dataset;HES Outpatient