Amyloidosis

Question 1

Amyloidosis define

Answer 1

Group of disorders with a same origin: deposits of abnormally folded fibrillar protein-amyloid
usually can be split by origin-
Primary amyloidosis (from B cells proliferating too much (lymphoma)
Secondary amyloidosis-resulting from systemic inflammation-serum Amyloid (RA/UC/Chrons)
Familial -autosomal dominant

Question 2

Amyloidosis aetiology/risk factors

Answer 2

Primary-B cells proliferation->immunoglobulin excess->light chain fold->organ failure=AA
ASSOCIATED WITH: Myeloma (15%), Lymphoma

2 types-
AA-Myeloma
AL- secondary to inflam disease

Secondary. Chronic inflammation->serum Amylase A (acute phase protein)->excess->bad folding->organ failure
RA, Crohns, UC, chronic infection=AL

familial ->misfolding from mutation, often only in liver (transplant can cure)

Question 3

Amyloidosis epidemology

Answer 3

Actually a commonish cause for nephrotic syndrome-think about primary or secondary if happens
Also can common cause heart issues

still rare -12.5 per 1mil –60cases annually

Question 4

Amyloidosis presentation

Answer 4

Characteristic features: Perioribital Purpura, nephrotic syndrome

Depends on which organs affected
Primary and secondary affect:
Kidneys: glumorular damage: Nephrotic syndrome (Present: Leg oedema, other oedema, foamy urine, fatigue)
Liver and spleen-hepato/Splenomegaly

specific to primary:
Heart : Constrictive cardiomyopathy- ( Sign of right heart failure (oedema, SOB, pink sputum, worse laying down, pillows), Angina, Arrythmia (dizziness)
Nerves-peripheral and autonomic neuropathy (night sweats, dizzy, constipation), carpal tunnel syndrome
Gut: Macroglossia, weight down, heamorraghe, obstruction
Vascular: Perioribital Purpura

familial-often nerves and renal + cardiac

Secondary-often Kidneys Liver and spleen, often present with splenomegaly

Question 5

Amyloidosis signs

Answer 5

Kidney signs- need investigation
Heart-arrythimias, raised JVP, raised JVP when taking breath (Kussmauls signs), Diffuse apex beat, quiet heart sounds, hepatomegaly, ascites, oedema
Nerves-pins and needles in hands (carpal tunnel), over body (peripheral neuropathy)-night sweats, constipation (autonomic)
Gut-macroglossia

Secondary-often Kidneys Liver and spleen, often present with splenomegaly, NOT macroglossia

familial-often nerves and renal + cardiac

Question 6

Amyloidosis investigation

Answer 6

Nephrotic syndrome-Proteinuria, HYPOalbuminaneamia
(often severe hyperdyslipedemia (over 10mmol/L)

Heart-arrythmias via ECG
Gut-might see anaemia from hemorrhage

signs of causative
primary-lymphoma, myeloma (Calcium, Aneamia)
Secondary-foeacal calprotectin, CRP, ESR, RA markers (anti CCP)

2 types-
AA-Myeloma
AL- secondary to inflam disease

DIAGNOSIS-only via biopsy of affected tissue -> Congo red staining (rectum and fat are preferred areas)

2 types-
AA-Myeloma
AL- secondary to inflam disease

Question 7

Amyloidosis Differential

Answer 7

Mutliple Myeloma (C Renal failure A B)
Hypertopic cardiomypathy-Echo needs to differentiate

Question 8

Amyloidosis management

Answer 8

treat underlying causes

AA- chemo and Stem cell transplant
AL- Anti TNFa-infliximab