AL Amyloidosis Presenting as Inflammatory

Polyarthritis

Dr. Md. Shoaib Momen Majumder

MBBS, FCPS (Medicine), MD (Rheumatology)
Cosultant Rheumatologist
Bangabandhu Shiekh Mujib Medical University, Bangladesh
 Introduction
• Amyloidosis is a rare localized and systemic
disease
• Extracellular deposition of a variety of fibrillar
protein
• Change in tissue architecture or function
 Types of amyloidosis
Basically two types:
1. AL (primary) amyloid: Plasma cell dyscrasia
2. AA (secondary) amyloid: Chronic diseases as RA,
SpA, IBD, TB, bronchiectasis, osteomyelitis1

Other major forms: Dialysis-related amyloidosis,

senile systemic or organ specific amyloidosis
 AL amyloidosis
• Most severe form of systemic amyloidosis
• Most common type in western countries 2
• Clonal plasma cell proliferative disorder
• Fibrils of monoclonal Ig LC deposited (kidneys,
heart and other tissues)
 AL amyloidosis
• Ig kappa or lambda chain act as a precursor
protein in AL amyloidosis
• Primary or AL amyloidois can occur
 Alone
Association with
 Multiple myeloma
 Waldenstrom’s macroglubinaemia or
 Non Hodgkin’s lymphoma
 Clinical features
• Depends
Types of amyloid
Affected organ /tissue where deposited

• Amyloid arthropathy: 5% of systemic

amyloidosis3
 Case Discussion
• A 55- year-old man with pain in multiple joints for
two years
• Pain
 Insidious
 Inflammatory
 Symmetric
 Started from wrists, gradually involved small
and large joints of upper and lower limbs
• Noticed moderate intensity inflammatory LBP for
11/2 years
 Cont.
• Enlarged tongue
Dull aching pain,
Aggravated by chewing food for last one year
• Noticed fatigue and significant weight loss
• Had CKD
• Bilateral CTS
CTS release surgery
• Reappearance of symptoms after partial
improvement for 5 months after surgery
 Cont.
• Analgesics:
 Naproxen
 Tramadol hydrochloride
 Sulindac
• Glucocorticoid (12 mg)
• Tofacitinib (10mg) for eight months
Response was inadequate
 Cont.
• No H/O
 painful red eye
 erythematous scaly skin lesion
 preceding diarrhea or dysentery
 any alteration of bowel habit
 photosensitivity
 repeated painless oral ulceration
 fever, cough
 contact with tuberculosis patient
 General examination
• Moderately anemic
• Papules and plaque
over periocular,
perioral, perinasal area
Papules and plaque over periocular, perioral, perinasal area
Macroglossia with lateral scalloping, pinch
purpura in the oral cavity
MSK examination
 Wrist and Shoulder

Localized soft tissue swelling Shoulder pad sign

 MSK system
• Flexion contracture was present in the left elbow
• Both knees were tender
• Movements were restricted in both hips with
positive Thomas test
• Loss of lumbar lordosis, positive schober’s test
• All movements of cervical spine were restricted
• Tenderness present over MCPs, wrists, elbows
and shoulders
 Nervous system examination
• Wasting of thenar muscle of both hands with
weakness of abduction and opposition of the
thumbs
• Positive Phalen sign
Examination of all other systems were
unremarkable
 Investigations
Test Result Reference value
Haemoglobin 8.2 15±2 mg/dl
ESR 55 0-10 mm
Total count 8000 7000±3000/cumm
RBC 2.97 5±0.5 lac/cumm
Platelet 3.4 1.5.4 lac/cumm
MCV 92 92±9fl
MCH 28 29.5±2.5pg
MCHC 30 33±1.5gm/dl
S.Creatinine 1.9 0.5-1.3mg/dl
CRP 97.9 <5 mg/l
ALT 36.27 0-45u/l
S. iron 112 45-182μgm/dl
S. ferritin 358 250-450μgm/dl
TIBC 192 31-258ng/ml
Urine RE Pus cell-1-3/HPF
RBC-occasional
Protein-(+)

Bence-jones protein Negative

UTP 0.82 <0.2 gm/day
S. Albumin 33.57 37.95-53.99g/l
S. total protein 47 54-83gm/l
RF Negative
ANTI CCP Negative
HLA B27 Negative
S. lipid profile Total cholesterol-176 <200 mg/dl
HDL cholesterol-35 >40 mg/dl
LDL cholesterol-121 <130 mg/dl
TG -99 <150 mg/dl

S.TSH 3.07
S.calcium 8.5 8.2-10.2mg/dl
Inorganic phosphate 3.3 2.5-4.9mg/dl
iPTH <3 11-67 pg/ml
Lesional biopsy Large deposit of amyloid in dermis. congo red stain
positive, amyloid confirmed under polarized
microscopy

Protein electrophoresis Alpha 1,2 slightly raised

Immunoelectrophoresis Increase accumulation of lambda light chain in serum

Bone marrow Normal

USG WA No organomegaly with normal sized kidneys
 Increased accumulation of Lamda light
chain in the Lamda zone on serum IFE gel
 The serum free light chain (FLC) assay
Test Details Results Biological Units
Reference Range

Free Kappa (light 23.6 3.3 to 19.4 mg/L

chain)

Free Lamda (light 3040 5.7 to 26.3 mg/L

chain)

Free Kappa/Lamda Below 0.01 0.26 to 1.65

ratio
Perioral biopsy with amyloid deposits
confirmed by Congo red staining

Amyloid
Final Diagnosis
AL amyloidosis
 Treatment and outcome
• Bortezomib based therapy started
• The patient succumbed to death due to
neutropenic sepsis
 Unique for this case
• Our patient presented with typical
inflammatory polyarthritis with subcutaneous
nodules over wrists mimicking RA preceded
the features of amyloidosis
• Presence of
 Macroglosia with lateral indentation of tongue
 Shoulder pad sign
 Perioral and periocular papules
 Biopsy evidence of amyloid deposition
Distinguished from a rheumatic disease
 Take Home Message
• Patients with amyloidosis can present with
joint symtoms and soft tissue deposits that
may mimic rheumatic disease
--That may delay the diagnosis
--Delaying in treatment initiation leads to poor
outcome
• A high index of suspicion is necessary for
proper diagnosis and management
 References
1. Rocken C,Shakespeare A, Pathology,diagnosis and
pathogenesis of AA amyloidosis Virchows Arch. 2002
Feb;440(2):111-122. doi: 10.1007/s00428-001-0582-9
2. Kyle RA, Linos A, Beard CM, Linke RP, Gertz MA, O’Fallon
WM, Kurland LT: Incidence and natural history of primary
systemic amyloidosis in Olmstead County, Minesota,
1950 through 1989. Blood 1992, 79:1817–1822.
3. Hind CRK, Pepys MB, Amyloidosis: clinical features.
Hospital Update. 1984;2:637-48
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