Gateway and journey of patients with cardiac amyloidosis

Abstract

Aims Advances have been made over the last decade in the management of cardiac amyloidosis (CA), but a delayed diagnosis is still common. The aim of this study was to describe the journey to CA diagnosis from initial clinical and to analyse time to diagnosis. Methods and results Between January 2001 and May 2019, 270 consecutive patients with CA diagnosed at Toulouse University Hospital were retrospectively included in this cross-sectional study: 111 (41%) light chain amyloidosis, 122 (45%) wild-type transthyretin amyloidosis, and 37 (14%) hereditary transthyretin amyloidosis. CA onset occurred mostly with dyspnoea (50%) or systematic follow-up (10%). The cardiologist was the first line specialist in 68% of patients, followed by the nephrologist (9%) and neurologist (8%). Patients encountered a median (minimum-maximum) number of two (1-7) physician specialists and performed a median (minimum-maximum) number of three (1-8) tests before diagnosis. Median delay between symptom onset and CA diagnosis was 8 [IQR 5-14], 10 [IQR 3-34], and 18 [IQR 4-49] months, respectively, in light chain amyloidosis, wild-type transthyretin amyloidosis, and hereditary transthyretin amyloidosis subgroups (P = .060). Having performed electromyography or spirometry was associated with a longer delay in diagnosis in the overall population: odds ratio = 1.13; 95% confidence interval 1.02 to 1.24; and odds ratio = 1.13; 1.03 to 1.24, respectively, probably due to non-specific initial symptoms. Conclusions CA is a protean disease with various first line specialists causing a diagnostic wandering despite increasing medical community awareness. It requires a multidisciplinary specialist care networks to educate and manage symptoms and therapies.

Current Challenges of Cardiac Amyloidosis Awareness Among Romanian Cardiologists

“…The most common type of amyloidosis seen in our participants practice was AL which is indeed a rare disease. The majority of our participants stated the mean delay from the first presentation with cardiac symptoms to diagnosis was no longer than 24 months, which is significantly lower than it was previously described in a large study involving patients from the UK National Amyloidosis Centre where a median diagnostic delay of 39 months was reported [15], but consistent with the results from another study involving patients with CA diagnosed at Toulouse University Hospital which reported a median delay between symptom onset and diagnosis of 8, 10 and 18 months in AL, ATTRwt and ATTRv, respectively [16]. Only proper training of healthcare personnel can improve the diagnostic delay in this condition as early diagnosis combined with timely initiation of the disease modifying treatment may lead to disease stabilization and a significant improvement in patient status [27].…”

“…In a study involving 1034 patients with CA from the UK National Amyloidosis Centre with a subset of 534 patients in whom complete data on hospital service usage were available, there was a median diagnostic delay from the first presentation with cardiac symptoms of 39 (8-78) months in patients with ATTRwt, with 42% waiting more than 4 years for the diagnosis to be established and a median delay of 25 (4-60) months in the ATTRv group [15]. Another retrospective study involving 270 consecutive patients with CA diagnosed at Toulouse University Hospital reported a median delay between symptoms onset and diagnosis of 8 (5-14), 10 (3-34) and 18 (4-49) months in AL, ATTRwt and ATTRv, respectively, where patients encountered a median number of 2 (1-7) phisicians and performed a median number of 3 (1)(2)(3)(4)(5)(6)(7)(8) tests before the diagnosis [16].…”

Current Challenges of Cardiac Amyloidosis Awareness among Romanian Cardiologists

“…The majority of our participants stated the mean delay from the first presentation with cardiac symptoms to diagnosis was no longer than 24 months, which is significantly lower than it was previously described in a large study involving patients from the UK National Amyloidosis Centre where a median diagnostic delay of 39 months was reported [ 15 ], but consistent with the results from another study involving patients with CA diagnosed at Toulouse University Hospital which reported a median delay between symptom onset and diagnosis of 8, 10 and 18 months in AL, ATTRwt and ATTRv, respectively [ 16 ]. Only proper training of healthcare personnel can improve the diagnostic delay in this condition as early diagnosis combined with timely initiation of the disease modifying treatment may lead to disease stabilization and a significant improvement in patient status [ 19 ].…”

“…In a study involving 1034 patients with CA from the UK National Amyloidosis Centre with a subset of 534 patients in whom complete data on hospital service usage were available, there was a median diagnostic delay from the first presentation with cardiac symptoms of 39 (8–78) months in patients with ATTRwt, with 42% waiting more than 4 years for the diagnosis to be established and a median delay of 25 (4–60) months in the ATTRv group [ 15 ]. Another retrospective study involving 270 consecutive patients with CA diagnosed at Toulouse University Hospital reported a median delay between symptoms onset and diagnosis of 8 (5–14), 10 (3–34) and 18 (4–49) months in AL, ATTRwt and ATTRv, respectively, where patients encountered a median number of 2 (1–7) physicians and performed a median number of 3 (1–8) tests before the diagnosis [ 16 ].…”

Echocardiographic Patterns of Left Ventricular Diastolic Function in Cardiac Amyloidosis: An Updated Evaluation

“…Indeed, the latest expert consensus on CA diagnosis presents this restrictive pattern or a grade ≥II LVDF as important criteria to suggest the presence of CA, despite recent extensive and multimodal CA characterisation [ 6 , 15 ]. However, cardiologists should consider CA prior to this stage to avoid delayed diagnosis, still common despite better disease knowledge by the cardiologists [ 16 ]. Applying the ASE-EACVI recommendations, we found that up to 25% of the study population had grade I LVDF with likely normal LV filling pressures [ 17 ].…”