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

Adams, David; Algalarrondo, Vincent; Polydefkis, Michael; Sarswat, Nitasha; Slama, Michel S.; Nativi-Nicolau, Jose

doi:10.1186/s13023-021-01960-9

Orphanet Journal of Rare Diseases

Table 5 Scenarios of clinically significant worsening in ATTRv amyloidosis that may prompt a change of therapy

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

Area of impairment	Consultant interview/other notable features	Specific questionnaire^a	Objective marker in consultation	Investigations
Somatic and autonomic neuropathy	1. Extension of paresthesia, pain on the body from lower limbs to the hands		Extension of sensory loss on the body	NCS
			Extension of sensory loss on the body	SNAP amplitudes
	2. Worsening of disability and development of upper limb weakness in previous sensory polyneuropathy	R-ODS	Reduction by 3–8 kg of grip strength	Jamar both hands grip strength test
		R-ODS	Increase by 7–16 points of NIS	NIS
	3. Onset or worsening of gait and/or balance disorders	Reduction of walking perimeter	Increase by 20% for gait speed	10MWT
		Reduction of walking perimeter	Extension of vibration loss in lower limbs	Timed Get Up and Go test
		PND score		Romberg sign/pallesthesia in LL
		Onset of falls		NIS
	4. Onset of erectile dysfunction, diarrhea, orthostatic faintness, urinary disorders, syncope
	5. Worsening of autonomic manifestation (OH, GI, GU)	CADT	OH onset	MIBG scintigraphy
	5. Worsening of autonomic manifestation (OH, GI, GU)	COMPASS-31	Sudoscan^®	HRV testing
Amyloid cardiomyopathy	1. Worsening dyspnea, weight gain, and other symptoms		Echocardiogram parameters	Echocardiogram
			Change in prescription	Biomarkers
			NT-proBNP
	2. New ECG features		Microvoltage	12-lead ECG
			Atrial fibrillation	Holter ECG
			Conduction abnormalities	EPS
	3. Worsening arrhythmic burden		Pacemaker implantation	Echocardiogram
			Bundle branch block	Biomarkers
			Atrioventricular block	EPS
	4. Worsening echocardiogram parameters confirmed by cMRI		Increased wall thickness	Echocardiogram
			Elevated LV filling pressures	cMRI
			Elevated pulmonary artery pressures
			New LV dysfunction
			Worsening of the longitudinal global strain
	5. Worsening cMRI T1 and ECV measurements			cMRI
	5. Worsening cMRI T1 and ECV measurements			Complete cardiac investigation, DPD scintigraphy
	6. Unplanned hospitalization		Hospitalization	Complete cardiac investigation
General health	1. Weight loss		Weight	mBMI
	2. Well-being	Norfolk QOL-DN
	2. Well-being	NYHA class

10MWT 10-m walk test, ATTRv hereditary transthyretin (v for variant), 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, ECV extracellular volume, EPS electrophysiologic study, GI gastrointestinal, GU genitourinary, HRV heart rate variability, LL lower limbs, LV left ventricular, 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, OH orthostatic hypotension, PND polyneuropathy disability, R-ODS Rasch-built Overall Disability Scale, SNAP sensory nerve action potential, T1 longitudinal relaxation time
^aQuestionnaires should be filled in before each 6-month consultation

Back to article page

ISSN: 1750-1172

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com