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Table 2 Monitoring signs and symptoms in patients with ATTRv amyloidosis

From: Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression

Area of impairment

Subjective symptoms

Objective signs

Symptom

Assessments (questionnaire)

Signs

Assessments

Somatic neuropathy

Pain, paresthesia

VAS (0–10)

Sensory loss for pain in LLs and ULs

Extension of sensory loss in LLs and ULs

Extension on the body

NCS

Skin punch biopsy

Walking difficulties

Walking perimeter

Walking difficulties

10MWT

PND score (0–IV)

Timed Get Up and Go test

NIS (0–192)

Balance disorders

Falls

Balance disorders

Romberg sign

Apallesthesia in the feet

Disability, difficulties with fine gestures

R-ODS (48–0)

Weakness in all 4 limbs

NIS

Grip test

Autonomic neuropathy

Faintness, syncope

Questionnaire

Cardiovascular dysautonomia

HRV test

MIBG cardiac scintigraphy

Atropine IV test

Orthostatic hypotension

Serial supine and orthostatic BP and pulse

Diarrhea, constipation, alternating diarrhea–constipation, early satiety, vomiting

Early satiety

Weight

mBMI

Gastroparesis

Gastric emptying test

Sweating abnormalities

Sweating abnormalities

Sudoscan®

Urinary retention, incontinence, sexual dysfunction

Questionnaire

 

Urodynamic assessment

Overall autonomic symptoms

COMPASS-31 (0–100)

  

CADT (20–0)

Amyloid cardiomyopathy

Excessive exertional tachycardia/syncope/bradycardia/palpitations (or none in early disease)

Questionnaire

Cardiac arrhythmia/atrial fibrillation

ECG

Conduction disorders

24-h Holter ECG

 

EPS

Shortness of breath, fatigue, weight gain, fluid retention in lower extremities, abdominal swelling

Questionnaire

Heart failure

Clinical examination including auscultation of heart and lungs

NYHA class

Volume overload/jugular venous distension/gallop rhythm/crackles (crepitant rales)/lower extremity edema

Body weight increase

6MWT

NT-proBNP

Troponin

Cardiac imaging

Echocardiogram

 

cMRI

 

DPD/PYP scintigraphy

Ocular manifestations

Ocular symptoms (blurred vision)

Questionnaire

Ocular dysautonomia

ACVs

 

KCS

 

Pupillary abnormalities

Amyloid deposition

Glaucoma (tonometry)

 

Vitreous opacities (slit lamp examination)

Renal dysfunction

Fatigue, decreased urine output

Questionnaire

Renal dysfunction

eGFR

 

Albuminuria

 

Urine proteinuria

General health

Fatigue

Questionnaire

  

Cachexia

Body weight decrease

General health

mBMI

Quality of life

Norfolk QOL-DN questionnaire (− 4 to 136)

 

BMI

 

Prealbumin

SF-36 questionnaire (0–100 per scale)

  

KCCQa (100–0)

  
  1. 6MWT 6-min walk test, 10MWT 10-m walk test, ACV abnormal conjunctival vessel, ATTRv hereditary transthyretin (v for variant), BMI body mass index, BP blood pressure, CADT Compound Autonomic Dysfunction Test, cMRI cardiac magnetic resonance imaging, COMPASS-31 Composite Autonomic Symptom Score-31, DPD 99mTc-3,3-diphosphono-1,2-propanodicarboxylicacid, ECG electrocardiogram, eGFR estimated glomerular filtration rate, EPS electrophysiologic study, HRV heart rate variability, IV intravenous, KCCQ Kansas City Cardiac Questionnaire, KCS keratoconjunctivitis sicca, LL lower limb, mBMI modified body mass index, MIBG metaiodobenzylguanidine, NCS nerve conduction study, NIS neuropathy impairment score, Norfolk QOL-DN Norfolk Quality of Life-Diabetic Neuropathy, NT-proBNP N-terminal prohormone of brain-type natriuretic peptide, NYHA New York Heart Association, PND polyneuropathy disability, PYP 99mTc-pyrophosphate, R-ODS Rasch-built Overall Disability Scale, SF-36 36-item Short-Form Health Survey, UL upper limb, VAS visual analog scale
  2. aKCCQ is specific to patients with cardiac disease
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172