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I can identify the array of symptoms


Explore the full range of symptoms of AL amyloidosis and the specific symptomatic
manifestations you might come across depending on your specialty.


AL amyloidosis can cause a number of vague symptoms and affect the body in several ways, making it hard to properly diagnose. Over the course of diagnosing this condition, specialists need to be aware of the full constellation of symptoms, look at the patient holistically and collaborate with other specialties involved to avoid potential misdiagnosis or delayed diagnosis.

Broader awareness of the symptoms and greater cross-disciplinary collaboration can help lead to earlier diagnosis and impact the outcomes associated with AL amyloidosis.[1][2][3]


Explore the symptoms[3][4][5]

AL amyloidosis is defined by a variety of symptoms. You may see one or all of these, but awareness of the key symptoms is still essential.

Periorbital purpura
  • This prototypic sign can immediately lead to the right diagnosis

Macroglossia
  • This prototypic sign can immediately lead to the right diagnosis
  • Most common presentation is dental indentations on the underside of the tongue
Nervous system

Carpal tunnel syndrome (bilateral)

  • Postural hypotension
  • Erectile dysfunction
  • Gastrointestinal motility alterations
  • Heart failure with preserved ejection fraction
  • Thickened ventricular walls and low voltages on electrocardiography 
  • Dyspnoea at rest or exertion, fatigue 
  • Peripheral oedema
  • Hepatomegaly
  • Malabsorption and weight loss 
  • Bleeding (factor X deficiency) 
  • Irregular bowel habits
  • Nephrotic range proteinuria
  • Peripheral oedema

What you should look for

Access an overview of the symptoms to look for in AL amyloidosis, together with specific symptoms by category.

General symptoms[2][3]

  • Unexplained, severe fatigue 
  • Unexplained weight loss 
  • Malnutrition
  • Asthenia 
  • Dyspnoea 
  • Unexplained facial or neck purpura
  • Macroglossia 
  • Oedema 
  • Paraesthesia
  • Neuropathy 
  • Diarrhoea 
  • Constipation
Cardiology

Heart Presentation (present in 74% of cases)[3]

Frequently observed clinical features

Potential biomarkers

Frequently observed clinical features

Heart failure [3]

Potential biomarkers

NT-proBNP >332 ng/L (100% sensitivity)[3][6]
BNP >81 ng/L*[6]

Frequently observed clinical features

Arrhythmias[3]

Potential biomarkers

NT-proBNP >332 ng/L (100% sensitivity)[3][6]
BNP >81 ng/L*[6]

Cardiac test findings

Low electrocardiographic voltage[3]

Restrictive cardiac wall thickening[3]

Late gadolinium enhancement and characteristic T1 mapping at MRI [3]

hsTnT above normal [3][7]

NOTE: Individual testing centres may have their own cut-off points - values provided in the table are for guidance only.

BNP = B-type natriuretic peptide; hsTnT = high sensitivity troponin T; MRI = magnetic resonance imaging; NT-proBNP = N terminal pro-B-type natriuretic peptide.
*Where NT-proBNP is not available / in the case of renal impairment.[8]

What to consider

  • Confer with a haematologist/oncologist about the posibility of AL amyloidosis

Experts discuss symptoms to look out for

What should you look for and consider when you suspect AL amyloidosis?
In this short 3-minute video, Dr Omar Siddiqi (cardiology) shares some insightful information on identifying the symptoms of AL amyloidosis.

Nephrology

Kidney Presentation (present in 65% of cases)[3]

Screening for pre-symptomatic amyloid renal involvement

Potential biomarkers

Proteinuria[3]

>0.5 g/day[3]

Frequently observed clinical features

Potential biomarkers

Frequently observed clinical features

Nephrotic syndrome, peripheral oedema, ascites, or renal failure[3][9]

Potential biomarkers

Total urine protein excretion rate >3,500 mg/day (protein-creatinine ratio>3,000 mg/g), with a decreased serum albumin concentration and oedema, with or without a decrease in glomerular filtration rate[9]

What to consider

  • Confer with a haematologist/oncologist about the posibility of AL amyloidosis

Experts discuss symptoms to look out for

What should you look for and consider when you suspect AL amyloidosis?
In this short 3-minute video, Dr Vaishali Sanchorawala (haematology/oncology) and Dr Omar Siddiqi (cardiology) share some insightful information on identifying the symptoms of AL amyloidosis.

Hepatology

Liver Presentation (present in 20% of cases)[3]

Frequently observed clinical features

Potential biomarkers

Frequently observed clinical features

Hepatomegaly without scan defects[3]

Potential biomarkers

Elevated alkaline phosphatase in the absence of other causes [3]

What to consider

  • Confer with a haematologist/oncologist about the possibility of AL amyloidosis
Gastroenterology

What to consider

  • Confer with a haematologist/oncologist about the posibility of AL amyloidosis

Experts discuss symptoms to look out for

What should you look for and consider when you suspect AL amyloidosis? In this short 3-minute video, Dr Vaishali Sanchorawala (haematology/oncology) and Dr Omar Siddiqi (cardiology) share some insightful information on identifying the symptoms of AL amyloidosis.

Haematology/Oncology

Frequently Observed Clinical Features[2]

  • Nephrotic syndrome and heart failure 
  • Simultaneous peripheral and autonomic neuropathy in nondiabetic patients 
  • Left ventricular hypertrophy on echocardiography without consistent electrocardiographic evidence or low limb lead voltages 
  • Hepatomegaly with normal imaging 
  • Albuminuria in patients with MGUS or myeloma

Haematology/Oncology Presentation[3][6][10]

Frequently observed clinical feature

Potential biomarkers

Frequently observed clinical feature

Unexplained, severe fatigue[3]

Potential biomarkers

BMI, serum transthyretin concentration[3]

Frequently observed clinical feature

Weight loss[3]

Potential biomarkers

BMI, serum transthyretin concentration[3]

Frequently observed clinical feature

Heart failure[3]

Potential biomarkers

NT-proBNP >332 ng/L (100% sensitivity)[3][6]

Frequently observed clinical feature

Arrhythmias[3]

Potential biomarkers

BNP >81 ng/L*[6]

Frequently observed clinical feature

Nephrotic syndrome, peripheral oedema, ascites, renal failure[3][10]

Potential biomarkers

Total urine protein excretion rate >3,500 mg/day (protein-creatinine ratio > 3,000 mg/g), with a decreased serum albumin concentration and oedema, with or without a decrease in glomerular filtration rate[9]

Frequently observed clinical feature

Plasmacytosis[10]

Potential biomarkers

BM cytology or histology >10%, ≥20%[10]

Frequently observed clinical feature

M protein (urine)[10]

Potential biomarkers

Continuous or >1g/day[10]

Frequently observed clinical feature

FLC[10]

Potential biomarkers

Serum iFLC 125/152 mg/L[10]
Serum dFLC continuous or >150/180/196/λ[10]
182/κ 294 mg/L[10]

BM=bone marrow; BMI=body mass index; eGFR=estimated glomerular filtration rate; dFLC=difference of involved minus uninvolved FLC; FLC=free light chain; iFLC=involved FLC; MGUS=monoclonal gammopathy of undetermined significance; NT-proBNP=N-terminal pro-B-type natriuretic peptide.

*Where NT-proBNP is not available / in the case of renal impairment[8]

What to consider

  • Once suspected, AL amyloidosis is diagnosed by identifying and typing the amyloid deposits 
  • Patients may enter the potential diagnostic considerations after clinical suspicion based on their symptoms or on positive biopsy findings for amyloid 
  • Confer with other specialties as well (i.e., for management of comorbidities and concomitant medications)

Experts discuss symptoms to look out for

What should you look for and consider when you suspect AL amyloidosis? In this short 4-minute video, Dr Vaishali Sanchorawala (haematology/oncology) and Dr Omar Siddiqi (cardiology) share some insightful information on identifying the symptoms of AL amyloidosis.

Primary Care/Other

What to consider

  • Once suspected, AL amyloidosis is diagnosed by identifying and typing the amyloid deposits 
  • Patients may enter the potential diagnostic considerations after clinical suspicion based on their symptoms or on positive biopsy findings for amyloid 
  • Confer with other specialties as well (i.e., for management of comorbidities and concomitant medications)

Experts discuss symptoms to look out for

What should you look for and consider when you suspect AL amyloidosis? In this short 4-minute video, Dr Vaishali Sanchorawala (haematology/oncology) and Dr Omar Siddiqi (cardiology) share some insightful information on identifying the symptoms of AL amyloidosis.

Learn about AL amyloidosis
Learn about the steps involved in diagnosing patients with AL amyloidosis

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References

Lousada I, et al. Adv Ther. 2015;32(10):920–928.
Desport E, et al. Orphanet J Rare Dis. 2012;7:54.
Dispenzieri A, Merlini G. Cancer Treat Res. 2016;169:273–318.
Merlini G, et al. Nat Rev Dis Primers. 2018;4(1):38.
Vaxman I, Gertz M. Acta Haematol. 2020;143:304–311.
Palladini G, et al. Blood. 2020;136(23);2620–2627.
Sharpley FA, et al. Haematologica. 2020;105(5):1405–1413.
Takase H, Dohi Y. Eur J Clin Invest. 2014;44(3):303–308
Am J Kidney Dis. 2002 Feb;39(2 Suppl 1):S1–266. K/OOQI clinical practice guidelines for chronic kidney disease: evaluation, classification, and stratification.
Dittrich T, et al. Acta Haematol. 2020;143(4):388–400.
CP-288418 - February 2022