CME TTR Amyloidosis Th The Undiagnosed Patient (and how to find - - PowerPoint PPT Presentation

▶

Sep 22, 2022 272 likes •391 views

CME TTR Amyloidosis Th The Undiagnosed Patient (and how to find them) m) Mo Mori rie A Gert rtz, z, MD MD: Ma Mayo Clinic TTR Amyloidosis: Epidemiology > 50,000 worldwide ~ 10,000 with FAP > 40,000 with FAC Assumed to

SLIDE 1

CME TTR Amyloidosis

Th The Undiagnosed Patient (and how to find them) m) Mo Mori rie A Gert rtz, z, MD MD: Ma Mayo Clinic

SLIDE 2

TTR Amyloidosis: Epidemiology

Hawkins P et al. Ann Med. 2015;47:625-638; Coelho T et al. Amyloidosis Foundation Physician’s Guide. 2008; Ando et al. Orphanet J Rare Diseases 2013, 8:31; Gertz MA. Am J Manag Care. 2017;23:S107-S112; Coelho T, Maurer M, Suhr O. CMRO. 2013; 29:63-76.

> 50,000 worldwide

~ 10,000 with FAP
> 40,000 with FAC
Assumed to be significantly underdiagnosed

Median age at onset 68 yrs

Large variance (10th - 90th percentile: 45 - 90 yrs)
Male: female ration highest in U.S. (4.6)

SLIDE 3

Conceição I, et al. J Peripher Nerv Syst. 2016;21(1):5-9;

TTR Amyloidosis: The Great Pretender

Multiple Systems Affected Nonspecific Symptoms Clinical heterogeneity (even in same families)

SLIDE 4

Delayed Diagnosis Diagnosis

Rx

Symptoms Missed Diagnosis Multiple Specialists

45% of patients misdiagnosed initially

Carpal tunnel syndrome, idiopathic polyneuropathy, ocular herpes, Sjorgrens

syndrome, IBS, bronchitis, congestive heart failure, GERD, spinal problems, gastropareses, COPD, NSAID-induced constipation, plantar fasclitis, fibromyalgia

2- 4 years (regardless of family history)1,2
1. Amyloidosis Foundation. 2. Plante-Bordeneuve V. Neurology. 2007; 69(7):693-8

TTR Amyloidosis: The Great Pretender

SLIDE 5

10 20 30 40 50 60 70

SOB Fatigue Edema Dizziness Fainting Fullness Weight Loss Enlarged Tongue Neuropathy Purpura Carpal Tunnel

% patients

wtATTR hATTR

Presenting Symptoms Variability

Figure provided by Dr. Gertz

SLIDE 6

10 20 30 40 50 60 70 80

Fat pad biopsy Heart biopsy PYP/DPD MRI Rectal biopsy Kidney biopsy

% patients

wtATTR hATTR

Diagnostic Tests Variability

Figure provided by Dr. Gertz

SLIDE 7

Conceição et al. J Peripher Nerv Syst. 2016;21(1):5-9.

When to Suspect TTR Amyloidosis

Family History Carpal Tunnel Cardiomyopathies

SLIDE 8

Castano et al. Eur Heart J 2017;38:2879-87

When to Suspect TTR Amyloidosis

Aortic stenosis in elderly (N=151)

All Patients

TTR-A No TTR-A (84%)

Females

No TTR-A (96%)

Males

No TTR-A (78%) TTR-A

SLIDE 9

Damy et al. Eur Hear J 2016: 14:1826 – 34.

When to Suspect TTR Amyloidosis

Increased left ventricular wall thickness

N = 298
Median Age 62 yrs, 74% male, 23% African origin, median LVWT

18 mm

Results
5% diagnosed TTR-FAC

SLIDE 10

Wittles et al JACC 2019; 7: 709-16

Red Flags

Reduction in longitudinal strain with apical sparing
Discrepancy between left ventricular thickness and QRS voltage
Atrioventricular block in the presence of increased left ventricular wall thickness
Echocardiographic hypertrophic phenotype with associated infiltrative features
Marked extracellular volume expansion, abnormal nulling time for the

myocardium or diffuse late gadolinium enhancement on CMR

Symptoms of polyneuropathy and/or dysautonomia
History of bilateral carpal tunnel syndrome
Mild increase in troponin levels on repeated occasions