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Amyloidosis in PEDIATRICS

Kourosh Vahidshahi (MD)

Pediatric Cardiologist

Associate ProfessorShahid Beheshti University of Medical Sciences

July. 2021

Amyloidosis

Amyloidosis

Amyloidosis

Amyloidosis

Amyloidosis

Amyloidosis

Amyloidosis: C0ngo-red stain

Amyloidosis

Amyloidosis

Amyloidosis in PEDIATRICS

Amyloidosis

Amyloidosis

Amyloidosis

Amyloidosis

Amyloidosis

Amyloidosis in PEDIATRICS

• Amyloidosis is rare in children.

• Primary: genetic syndrome

- Peripheral nervous system and the heart.

• Secondary :juvenile rheumatoid arthritis, chronic infections, familial Mediterranean fever and malignancy.

• The most common : reactive AA amyloidosis due to chronic inflammatory diseases

Amyloidosis in PEDIATRICS

• Kidney

• Heart

• GI

• Neuropathy

• Hematologic

• Skin

• …

Amyloidosis in PEDIATRICS

Kidney

• Asymptomatic proteinuria

• the most common initial presentation

• Urinalysis routinely :risk of secondary amyloidosis.

• Gradually progressing to nephrotic syndrome

and/or renal dysfunction

Amyloidosis in PEDIATRICS

Kidney

• In the series reported by the Turkish FMF study : 32% proteinuria, 40% nephrotic syndrome, and 28% chronic renal failure .

• Hematuria and hypertension almost never occurs

• 10–30% of patients with renal amyloidosis might have only mild proteinuria and normal renal function

Amyloidosis in PEDIATRICS

Kidney

• Renal failure with little or no proteinuria:

- primary deposition of amyloid fibrils to blood

vessels or tubules.

• Tubular dysfunction such as type 1 (distal) renal

tubular acidosis, nephrogenic diabetes insipidus

related polyuria, and acquired Fanconi syndrome

Amyloidosis in PEDIATRICS

GI

• dyspepsia, abdominal pain, nausea, diarrhea, gastrointestinal bleeding, malabsorption, constipation, and obstruction.

• Acute gastrointestinal system symptoms may resemble FMF attacks.

• Hepatomegaly and splenomegaly .

• Serum liver enzymes can elevate

• Splenomegaly can cause hypersplenism and rarely splenic rupture

Amyloidosis in PEDIATRICS

Hematopoietic system

• Bone marrow

• bleeding diathesis due to factor X deficiency, liver

disease, or infiltration of blood vessels .

• Thrombotic events due to underlying disease,

nephrotic syndrome

Amyloidosis in PEDIATRICS

• Nervous system

• Mixed sensory and motor peripheral neuropathy and autonomic neuropathy

• Rare in the secondary forms.

• Hereditary amyloidoses : familial amyloidoticpolyneuropathy

• Central nervous system involvement is unusual.

Amyloidosis in PEDIATRICS

Attempts to treat amyloidosis by:

-immunosuppression

-steroids

-fat elimination diets

• have been unsuccessful.

• Kidney transplants

• recurrence has been reported.

Amyloidosis in PEDIATRICS

• Colchicine : great success for the prevention of the 'attacks' of FMF.

• inhibit the development of casein induced amyloidosis in mice.

• Perhaps, the onset of amyloidosis will be prevented or delayed in patients with FMF treated with colchicine

Amyloidosis in PEDIATRICS

The HEART

Amyloidosis in PEDIATRICS

• Cardiac amyloidosis results in a restrictive

cardiomyopathy

• Extracellular deposition of proteins in the

myocardium.

Amyloidosis in PEDIATRICS: The HEART

• Heart Systolic or diastolic dysfunction, and

arrhythmia are the main presenting features

of heart involvement.

• Cardiac involvement is more rare in AA

amyloidosis compared to AL amyloidosis and

may progress rapidly

Amyloidosis in PEDIATRICS: The HEART

Restrictive

Cardiomyopathy

Amyloidosis in PEDIATRICS: The HEART

Restrictive Cardiomyopathy

Clinical Manifestation

• Left sided backward :pulmonary congestion

- Exertional dyspnea / intolerance

- Recurrent Pneumonia

- Chronic cough

• Left sided forward:

-syncope, Angina,..

- Arrhythmia

• Right sided backward : Edema, Hepatomegaly,…

Restrictive Cardiomyopathy

Restrictive Cardiomyopathy

Restrictive Cardiomyopathy

Restrictive Cardiomyopathy

Restrictive Cardiomyopathy

Restrictive Cardiomyopathy

Amyloidosis in PEDIATRICS

Kourosh Vahidshahi (MD)

Pediatric Cardiologist

Associate ProfessorShahid Beheshti University of Medical Sciences

July. 2021