AL type cardiac amyloidosis diagnosis and management

1. 1
AL type Cardiac Amyloidosis
Haneen Hassan Shakir
Internal medicine resident Dr

2. Infiltrative Cardiomyopathy
• Characterized by the deposition of abnormal substances
(protein, cells, etc.) within the heart causing myocardial
dysfunction.
• Diagnosis requires a high degree of suspicion.
• Represents cardiac manifestation of a systemic disease.

3. Causes of Infiltrative CMs
• Amyloidosis
• Sarcoidosis (and other inflammatory diseases)
• Hemochromatosis
• Fabry disease (lysosomal storage)
• Danon disease (LAMP2 deficiency)
• PRKAG2 deficiency
• Friedreich ataxia (frataxin mutation)
• Hypereosinophilic syndromes
• Carcinoid

4. Amyloidosis is a Multisystem Disease
CNS MANIFESTATIONS
• Progressive dementia
• Headache
• Ataxia
• Seizures
• Spastic paresis
• Stroke-like episodes
AUTONOMIC NEUROPATHY
• Orthostatic hypotension
• Recurrent urinary tract
infection (due to urinary retention)
• Sexual dysfunction
• Sweating abnormalities
CV MANIFESTATIONS
• Conduction blocks
• Cardiomyopathy/cardiac hypertrophy
• Systolic and/or diastolic dysfunction
• Atrial and/or ventricular arrhythmias
• Mild valvular regurgitation
• Shortness of breath
• Fluid retention (edema, ascites)
PERIPHERAL SENSORY MOTOR NEUROPATHY
• Neuropathic pain
• Altered sensation (i.e., change
in sensitivity to pain and temperature)
• Numbness and paresthesia
• Muscle weakness
• Impaired balance
• Difficulty walking
RENAL
• Proteinuria
• Renal failure
CARPAL TUNNEL SYNDROME
OCULAR MANIFESTATIONS
• Vitreous opacification
• Glaucoma
• Abnormal conjunctival vessels
• Papillary abnormalities
GI MANIFESTATIONS
• Nausea and vomiting
• Changes in GI motility
(i.e., diarrhea, constipation,
gastroparesis, early satiety)
• Unintentional weight loss

5. Risk factors that increase the risk of amyloidosis include
advanced age,
male gender, black race
coexistent chronic or infectious diseases
family history (given that some types of amyloidosis are
hereditary).
5

6. 6
Type Source of amyloid. Organs involved
AL (primary
Amyloidosis)
Amyloid light chain
Bone marrow
(Light chain produced by
plasma cells)
Heart
Kidneys
Liver
GI sys
Nervous system
AA (secondary
Amyloidosis)
Amyloid A protein
Circulating inflammatory
proteins
Kidneys
Liver
TTR(familial Amyloidosis)
Mutant Transthyretin
Mutant Transthyretin
produced by the liver
Heart
Nervous system
SSA (senile systemic
Amyloidosis)
Wild type
Transthyretin
Heart
Types of Amyloidosis

7. Cardiac Amyloidosis/ AL type
Cardiac Amyloidosis is a restrictive cardiomyopathy marked by extracellular accumulation of
misfolded protein fragments.
Disease recognition requires a high degree of suspicion (“pattern recognition”). Early diagnosis is
the key to improving survival.
AL (light-chain) amyloidosis where amyloid protein is derived from misfolded immunoglobulin
light chains in the context of a plasma cell dyscrasia.
About 10% of patients with multiple myeloma may have AL amyloidosis.
50-70% of AL amyloidosis patients have some degree of heart involvement

8. 8

9. Cardiac Amyloidosis Presentations
• Heart failure (dyspnea, edema, etc)
• Angina
• Syncope/presyncope (conduction disease)
• Sudden death
• Unexplained LVH
• ECG/Echo abnormalities
• Pericardial disease
• Thromboembolism/stroke

10. Falk RH, Circulation, 2011
Cardiac tests:

14. Hematological tests
14
Serum electrophoresis
serum and urine immunofixation
Free light chain assay

15. 15
Biopsy:
Endomyocardial biopsy is the gold
standard for the Diagnosis .

16. 16

17. 17

18. General Principles for Treatment of Cardiac
Amyloidosis
• Treatment depends on the identification of the
precursor protein
• Diuretics/sodium restriction
• Surveillance for and treatment of atrial/ventricular
arrhythmias
• Monitoring for conduction disease
• Avoidance of negative inotropic/chronotropic
drugs (beta blockers, calcium channel blockers)
• Avoidance of vasodilator therapy

19. AL Cardiac Amyloidosis Treatment
Chemotherapy is the cornerstone therapy

20. Clues for Cardiac Amyloidosis

22. 22
Thank you