• For Canadian Healthcare Professionals Only.
  • ENFR
  • For Canadian Healthcare Professionals Only.
  • ENFR

Recognizing red flags

MULTI-SYSTEMIC SYMPTOMS ARE A RED FLAG FOR hATTR2

Hereditary ATTR is heterogeneous by definition. Symptoms can be predominantly neurologic, cardiac, or mixed from the start. But as the disease progresses, a mixed-phenotype presentation becomes more and more likely.4

Watch for these signs and symptoms to accelerate identification of mixed-phenotype patients1

This list of signs is not intended to be exhaustive.

Human body outline highlighting areas affected by mixed-phenotype ATTR

Importance of autonomic dysfunction

AUTONOMIC SYMPTOMS ARE A HALLMARK OF hATTR, PRESENT IN ALMOST ALL MUTATIONS6

Autonomic dysfunction tends to progress in parallel with sensory and motor dysfunction, yet it is often overlooked or missed altogether in the presence of prominent cardiac symptoms or motor impairment.6

ROUTINELY ASSESSING AUTONOMIC DYSFUNCTION CAN HELP PREDICT DISEASE PROGRESSION6

Validated tests and questionnaires assess autonomic symptoms across multiple different domains, such as:6-8

Orthostatic intolerance (fainting, dizziness)
Gastrointestinal (diarrhea, constipation, bloating, abdominal pain, satiety)
Bladder
Bladder (urinary incontinence, difficulty passing urine)
Sexual (erectile dysfunction)
Secretomotor (sweating abnormalities, eye or mouth dryness)
Vasomotor (skin colour changes)
Pupillomotor (light sensitivity, trouble focusing)

Screen for autonomic symptoms early and often, as they are common, progressive, and have a significant impact on patients’ quality of life6

Exploring the quality-of-life impact

hATTR HAS A PROFOUND IMPACT ON PATIENTS’ QUALITY OF LIFE9

One study showed that:9

~80% of patients were unable to participate in social activities
~80% of patients had difficulty gripping/holding objects
64% of patients had difficulty dressing, bathing, and using the bathroom
57% of patients said their symptoms interfered with household chores
50% of patients felt frustrated by the progression of their symptoms and loss of functioning
43% of patients described feelings of sadness and depression related to their hATTR
~30% of patients said their condition forced them into idleness

Evaluate the quality-of-life impact of ATTR – not just the signs and symptoms – before irreversible damage takes away your patients’ independence

With mixed-phenotype hATTR expected in up to 80% of patients (depending on mutation), multi-disciplinary consultation is crucial4,5

GET RECOMMENDATIONS FOR DIAGNOSING ATTR

ATTR is a systemic, progressive, and fatal disease caused by misfolded TTR, a protein produced by the liver1,3,10

LEARN MORE ABOUT ATTR

hATTR: hereditary transthyretin amyloidosis; HFpEF: heart failure with preserved ejection fraction; LV: left-ventricular; LVEF: left-ventricular ejection fraction;
TTR: transthyretin.

References: 1. Nativi-Nicolau JN, Karam C, Khella S, Maurer MS. Heart Fail Rev. 2022;27(3):785-793. 2. Alcantara M, et al. Can J Neurol Sci. 2022;49:7-18. 3. Fine NM, et al. CJC. 2020;36:322-334. 4. Fine N, et al. CJC Open. 2025;7(5):614-627. 5. Kittleson MM, et al. J Am Coll Cardiol. 2023;81(11):1076-1126. 6. Gonzalez-Duarte A, Valdes-Ferrer SI, Cantu-Brito C. Clin Auton Res. 2019;29(Suppl 1):S1-S9. 7. Sletten DM, et al. Mayo Clin Proc. 2012;87(12):1196-1201. 8. The Composite Autonomic Symptom Score (COMPASS-31). BMJ Open. Supplemental material. 9. Lovley A, et al. J Patient Rep Outcomes. 2021;5(1):3. doi:10.1186/s41687-020-00273-y. 10. Sanguinetti C, et al. Biomed. 2022;10(8):1906. doi:10.3390/biomedicines10081906.