Amyloidosis Overview Quiz

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Questions and Answers

What is the relationship between mutated serum transthyretin and heart conditions?

It leads to dilated cardiomyopathy.

It results in arrhythmias.

It does not affect heart function.

It causes restrictive cardiomyopathy. (correct)

Which population has a 5% carrier rate for the mutated transthyretin gene?

Asian Americans

Native Americans

African Americans (correct)

Caucasians

What is the origin of amyloid deposits associated with Alzheimer's disease?

β-amyloid precursor protein (correct)

Insulin

Calcitonin

Transthyretin

At what age do most individuals with Down syndrome typically develop Alzheimer disease?

40 years Signup and view all the answers

What substance deposits in the pancreas's islets in non-insulin-dependent diabetes mellitus?

Amylin Signup and view all the answers

Which type of carcinoma is associated with calcitonin deposits?

Medullary carcinoma of the thyroid Signup and view all the answers

What is identified as a significant consequence of dialysis-associated amyloidosis?

Joint deposits of β2-microglobulin Signup and view all the answers

Which of the following is NOT involved in amyloid diseases mentioned?

Glycogen Signup and view all the answers

What is the primary characteristic of amyloid that leads to tissue damage?

Misfolded proteins that deposit in extracellular spaces Signup and view all the answers

Which type of amyloid is associated with plasma cell dyscrasias such as multiple myeloma?

AL amyloid Signup and view all the answers

What condition leads to increased serum amyloid-associated protein (SAA) levels?

Chronic inflammatory states Signup and view all the answers

Which condition is most commonly associated with nephrotic syndrome?

Localized amyloidosis Signup and view all the answers

What is a common clinical presentation of Familial Mediterranean fever (FMF)?

Episodes of fever and acute serosal inflammation Signup and view all the answers

Which staining method is used to identify amyloid deposits microscopically?

Congo red staining Signup and view all the answers

What is a primary method of diagnosing amyloidosis?

Tissue biopsy Signup and view all the answers

What primary characteristic distinguishes primary amyloidosis from secondary amyloidosis?

Source of amyloid protein Signup and view all the answers

Which type of amyloidosis is characterized by non-mutated serum transthyretin deposits?

Senile cardiac amyloidosis Signup and view all the answers

Which of the following symptoms is NOT associated with amyloidosis?

Severe hypertension Signup and view all the answers

What is the structural configuration commonly found in amyloid proteins?

β-pleated sheet Signup and view all the answers

What is a potential consequence of damaged organs affected by amyloidosis?

They must be transplanted Signup and view all the answers

Which of the following conditions is NOT a cause of increased SAA levels leading to secondary amyloidosis?

Cardiovascular disease Signup and view all the answers

Localized amyloidosis typically affects how many organs?

A single organ Signup and view all the answers

Which feature of familial amyloid cardiomyopathy distinguishes it from senile cardiac amyloidosis?

Presence of mutated serum transthyretin Signup and view all the answers

In cases of amyloidosis, which organ is usually considered the most involved in nephrotic syndrome?

Kidney Signup and view all the answers

Amyloid is a properly folded protein that deposits in the intracellular space, thereby damaging tissues.

False Signup and view all the answers

Congo red staining of amyloid deposits reveals a blue appearance under polarized light.

False Signup and view all the answers

Secondary amyloidosis involves the deposition of AL amyloid, which is derived from serum amyloid-associated protein (SAA).

False Signup and view all the answers

Familial Mediterranean fever (FMF) is characterized by dysfunction of eosinophils and primarily affects individuals of Asian descent.

False Signup and view all the answers

The clinical presentation of systemic amyloidosis can affect any tissue, leading to diverse clinical findings.

True Signup and view all the answers

AL amyloid is associated with myeloid disorders rather than plasma cell dyscrasias like multiple myeloma.

False Signup and view all the answers

Serum amyloid-associated protein (SAA) levels are unaffected during acute inflammatory states.

False Signup and view all the answers

Amyloid deposits are always localized to specific organs, affecting only limited areas of the body.

False Signup and view all the answers

Nephrotic syndrome is the least common finding associated with amyloidosis.

False Signup and view all the answers

Localized amyloidosis typically involves multiple organs in an individual.

False Signup and view all the answers

Senile cardiac amyloidosis is present in about 50% of individuals older than 80 years.

False Signup and view all the answers

Tissue biopsy of the abdominal fat pad and rectum are preferred methods for diagnosing amyloidosis.

True Signup and view all the answers

Familial amyloid cardiomyopathy is characterized by mutated serum transthyretin deposits.

True Signup and view all the answers

Amyloid deposits in the heart are typically asymptomatic until a later stage.

True Signup and view all the answers

Damage to organs affected by amyloidosis can often be reversed through treatment.

False Signup and view all the answers

Tongue enlargement is a classic finding associated with amyloidosis.

True Signup and view all the answers

Mutated serum transthyretin primarily causes restrictive cardiomyopathy in Caucasians.

False Signup and view all the answers

Amyloid plaques in Alzheimer's disease are primarily formed from Aβ amyloid derived from β-amyloid precursor protein.

True Signup and view all the answers

The gene for β-APP is located on chromosome 21, which is associated with an increased risk of Alzheimer's disease in individuals with Down syndrome.

True Signup and view all the answers

Calcitonin, produced by medullary carcinoma of the thyroid, does not form deposits in the tumor.

False Signup and view all the answers

β2-microglobulin is primarily associated with deposits in the joints rather than the kidneys in dialysis-associated amyloidosis.

True Signup and view all the answers

Amylin, which is derived from insulin, forms deposits primarily in the liver in cases of type II diabetes.

False Signup and view all the answers

Most individuals with Down syndrome develop Alzheimer disease by the age of 40 due to an excess of Aβ amyloid accumulation.

True Signup and view all the answers

Dialysis-associated amyloidosis is not associated with β2-microglobulin deposits.

False Signup and view all the answers

What is the most common organ involved in nephrotic syndrome associated with amyloidosis?

The kidney is the most common organ involved in nephrotic syndrome associated with amyloidosis. Signup and view all the answers

Which type of amyloidosis is usually asymptomatic and commonly found in individuals over 80 years of age?

Senile cardiac amyloidosis is usually asymptomatic and found in individuals over 80 years old. Signup and view all the answers

What are the two easily accessible sites for tissue biopsy in diagnosing amyloidosis?

The abdominal fat pad and rectum are the two easily accessible sites for biopsy. Signup and view all the answers

In a patient with localized amyloidosis, is the amyloid deposition typically limited to one organ or multiple organs?

Amyloid deposition in localized amyloidosis is typically limited to one organ. Signup and view all the answers

What is a primary clinical feature associated with amyloidosis affecting the tongue?

Tongue enlargement is a primary clinical feature associated with amyloidosis. Signup and view all the answers

What are the shared microscopic features of amyloid deposits observable under polarized light?

Congo red staining reveals apple-green birefringence under polarized light. Signup and view all the answers

What is the role of damaged organs in the context of amyloidosis treatment?

Damaged organs affected by amyloidosis must be transplanted, as amyloid cannot be removed. Signup and view all the answers

Differentiate between primary and secondary amyloidosis based on the source of amyloid deposits.

Primary amyloidosis involves AL amyloid from immunoglobulin light chains, while secondary amyloidosis involves AA amyloid from serum amyloid-associated protein (SAA). Signup and view all the answers

What are some potential consequences of amyloid deposition in the heart?

Amyloid deposition in the heart can lead to restrictive cardiomyopathy or arrhythmia. Signup and view all the answers

Identify the pathophysiological mechanism causing elevated serum amyloid-associated protein (SAA) levels during inflammatory states.

SAA levels increase as it is an acute phase reactant during chronic inflammation, malignancy, or familial Mediterranean fever. Signup and view all the answers

How is familial amyloid cardiomyopathy distinguished from senile cardiac amyloidosis?

Familial amyloid cardiomyopathy is characterized by mutated serum transthyretin deposits. Signup and view all the answers

What condition, associated with neutrophil dysfunction, often presents with episodes of fever and acute serosal inflammation?

Familial Mediterranean fever (FMF) is characterized by such episodes. Signup and view all the answers

Explain how amyloid deposits can lead to diverse clinical findings in systemic amyloidosis.

Amyloid deposits can affect almost any tissue, resulting in a wide range of symptoms according to the organs involved. Signup and view all the answers

Describe the structural configuration of amyloid proteins that contributes to their pathological effects.

Amyloid proteins typically exhibit a β-pleated sheet configuration, which is responsible for their aggregation and deposition. Signup and view all the answers

What is the significance of the Congo red stain in diagnosing amyloidosis?

Congo red stain helps in visualizing amyloid deposits due to its ability to reveal the characteristic apple-green birefringence. Signup and view all the answers

How does primary amyloidosis relate to plasma cell dyscrasias?

Primary amyloidosis is associated with AL amyloid, which derives from immunoglobulin light chains produced in plasma cell dyscrasias like multiple myeloma. Signup and view all the answers

What specific type of amyloid is associated with Alzheimer's disease?

Aβ amyloid. Signup and view all the answers

Which chromosome is linked to the gene for β-APP in Alzheimer's disease?

Chromosome 21. Signup and view all the answers

Identify the substance that deposits in the pancreas's islets in individuals with non-insulin-dependent diabetes mellitus.

Amylin. Signup and view all the answers

What is the nature of amyloid deposits in the context of medullary carcinoma of the thyroid?

Calcitonin deposits. Signup and view all the answers

What condition primarily leads to amyloid deposits of β2-microglobulin?

Dialysis-associated amyloidosis. Signup and view all the answers

What cardiovascular condition can arise from mutated serum transthyretin?

Restrictive cardiomyopathy. Signup and view all the answers

In which demographic is the mutated transthyretin gene mostly carried, and what is its carrier rate?

5% of African Americans. Signup and view all the answers

How does the presence of β2-microglobulin differ in deposits related to dialysis-associated amyloidosis?

Primarily in joints. Signup and view all the answers

Nephrotic syndrome primarily affects the ______ as the most common organ involved.

kidney Signup and view all the answers

Localized amyloidosis typically involves ______ organ.

one Signup and view all the answers

Senile cardiac amyloidosis is usually found in individuals older than ______ years.

80 Signup and view all the answers

Diagnosis of amyloidosis often requires a ______ biopsy.

tissue Signup and view all the answers

Familial amyloid cardiomyopathy features deposits of mutated serum ______ in the heart.

transthyretin Signup and view all the answers

Classic findings of amyloidosis may include tongue ______, malabsorption, and hepatosplenomegaly.

enlargement Signup and view all the answers

Damaged organs affected by amyloidosis often require ______ due to irreversible damage.

transplantation Signup and view all the answers

Amyloid cannot be ______, impacting long-term organ function and health.

removed Signup and view all the answers

Mutated serum transthyretin deposits in the heart leading to restrictive ______.

cardiomyopathy Signup and view all the answers

Amylin, derived from insulin, deposits in the islets of the ______.

pancreas Signup and view all the answers

Aβ amyloid deposits in the brain form amyloid ______.

plaques Signup and view all the answers

Calcitonin produced by tumor cells deposits within the ______.

tumor Signup and view all the answers

Dialysis-associated ______ primarily involves deposits of β2-microglobulin in joints.

amyloidosis Signup and view all the answers

Individuals with Down syndrome commonly develop Alzheimer disease by the age of ______.

40 Signup and view all the answers

β2-microglobulin deposits in ______ are primarily seen in dialysis-associated amyloidosis.

joints Signup and view all the answers

The gene for β-APP is present on chromosome ______.

21 Signup and view all the answers

Amyloid is a misfolded protein that deposits in the ______ space, thereby damaging tissues.

extracellular Signup and view all the answers

Primary amyloidosis involves the systemic deposition of ______ amyloid, derived from immunoglobulin light chain.

AL Signup and view all the answers

Secondary amyloidosis is associated with serum amyloid-______ protein, which is an acute phase reactant.

A Signup and view all the answers

Familial Mediterranean fever (FMF) typically presents with episodes of ______ and acute serosal inflammation.

fever Signup and view all the answers

Amyloid deposits can be identified using ______ red staining and viewed microscopically for apple-green birefringence.

Congo Signup and view all the answers

Systemic amyloidosis can affect almost any ______, leading to diverse clinical findings.

tissue Signup and view all the answers

AA amyloid is primarily derived from serum amyloid-associated ______.

protein Signup and view all the answers

Disease processes that lead to increased SAA levels include chronic ______, malignancy, and inflammatory states.

inflammation Signup and view all the answers

Match the following findings associated with amyloidosis with their descriptions:

Nephrotic syndrome = Most common organ involvement Restrictive cardiomyopathy = May present in familial amyloid cardiomyopathy Tongue enlargement = Classic finding indicative of systemic amyloidosis Diagnosis = Requires tissue biopsy from abdominal fat pad or rectum Signup and view all the answers

Match the types of amyloidosis with their characteristics:

Localized amyloidosis = Amyloid deposits typically affect a single organ Senile cardiac amyloidosis = Non-mutated serum transthyretin deposits are found in the heart Familial amyloid cardiomyopathy = Involves mutated serum transthyretin causing heart issues Secondary amyloidosis = Often results from chronic inflammatory conditions Signup and view all the answers

Match the symptoms of amyloidosis with their related conditions:

Hepatosplenomegaly = Common in systemic amyloidosis Arrhythmia = Can occur in restrictive cardiomyopathy Malabsorption = Associated with gut involvement in amyloidosis Liver enlargement = Often accompanies tongue enlargement in amyloidosis Signup and view all the answers

Match the following age-related findings with their corresponding amyloidosis types:

Individuals > 80 years = Senile cardiac amyloidosis is present in about 25% Age-related symptoms = Often linked with senile cardiac amyloidosis Young adults = Familial amyloid cardiomyopathy is more prevalent All age groups = Systemic amyloidosis can present with any symptom Signup and view all the answers

Match the biopsy targets for diagnosing amyloidosis with their accessibility:

Abdominal fat pad = Easily accessible site for biopsy Rectum = Another commonly targeted biopsy area Bone marrow = Can also be utilized but less preferred Skin = More invasive compared to fat pad and rectum Signup and view all the answers

Match the major organ systems involved in amyloidosis with their associated findings:

Cardiac system = Restrictive cardiomyopathy or arrhythmia can develop Renal system = Nephrotic syndrome is a key presentation Gastrointestinal system = Malabsorption and gastrointestinal symptoms arise Hematological system = May show dysregulation in plasma cell disorders Signup and view all the answers

Match the following amyloid deposits with their associated conditions:

β2-microglobulin = Dialysis-associated amyloidosis Amylin = Type II diabetes mellitus Aβ amyloid = Alzheimer disease Calcitonin = Medullary carcinoma of the thyroid Signup and view all the answers

Match the amyloidosis types with their variants:

AL amyloidosis = Associated with monoclonal protein disorders AA amyloidosis = Related to chronic inflammatory diseases ATTR amyloidosis = Involves mutated or non-mutated transthyretin Aβ amyloidosis = Associated with plaque formation in Alzheimer's disease Signup and view all the answers

Match the following proteins with their origin associated with amyloid diseases:

Serum transthyretin = Restrictive cardiomyopathy Insulin = Non-insulin-dependent diabetes mellitus β-amyloid precursor protein = Alzheimer disease β2-microglobulin = Joints in dialysis Signup and view all the answers

Match the following amyloid types with their typical population characteristics:

Mutated serum transthyretin = 5% of African Americans carry the gene Amylin = Deposits in pancreatic islets Aβ amyloid = Increased risk in Down syndrome β2-microglobulin = Associated with dialysis patients Signup and view all the answers

Match the descriptions of common clinical findings with their respective symptoms in amyloidosis:

Tongue enlargement = May indicate systemic involvement Hepatomegaly = Indicative of liver involvement in amyloidosis Peripheral edema = Often a sign of nephrotic syndrome Heart failure = Can occur in both senile and familial amyloid cardiomyopathy Signup and view all the answers

Match the following amyloidosis types with their clinical features:

Primary amyloidosis = AL amyloid deposition Secondary amyloidosis = Derived from serum amyloid-associated protein (SAA) Familial amyloid cardiomyopathy = Mutated serum transthyretin deposits Senile cardiac amyloidosis = Common in individuals over 80 Signup and view all the answers

Match the following amyloid deposition characteristics with their conditions:

Aβ amyloid = Forms amyloid plaques in Alzheimer's disease Amylin = Found in individuals with type II diabetes Calcitonin = Expressed in medullary thyroid carcinoma β2-microglobulin = Deposits primarily in joints Signup and view all the answers

Match the types of amyloidosis with their characteristics:

Primary amyloidosis = Systemic deposition of AL amyloid from immunoglobulin light chains Secondary amyloidosis = Systemic deposition of AA amyloid from serum amyloid-associated protein Localized amyloidosis = Amyloid deposits confined to specific organs Familial Mediterranean fever (FMF) = Condition leading to increased SAA during febrile episodes Signup and view all the answers

Match the following amyloid-related proteins with their associated diseases:

Mutated serum transthyretin = Restrictive cardiomyopathy Aβ amyloid = Alzheimer disease Insulin-derived Amylin = Type II diabetes mellitus Calcitonin = Medullary thyroid carcinoma Signup and view all the answers

Match the staining methods with their associated findings:

Congo red staining = Apple-green birefringence under polarized light Direct tissue biopsy = Preferred method for diagnosing amyloidosis Immunofluorescence = Used to identify amyloid-related proteins Electron microscopy = Visualizes fibrillar structures of amyloid Signup and view all the answers

Match the following amyloid conditions with their specific protein sources:

Dialysis-associated amyloidosis = β2-microglobulin Type II diabetes mellitus = Amylin Alzheimer disease = Aβ amyloid Medullary carcinoma of the thyroid = Calcitonin Signup and view all the answers

Match the following amyloid types with their unique implications in specific populations:

Familial amyloid cardiomyopathy = Restricted to certain ethnicities Medullary carcinoma of the thyroid = Specific calcitonin deposits Dialysis-associated amyloidosis = Typical among dialysis patients Alzheimer disease = Commonly affects individuals with Down syndrome Signup and view all the answers

Match the clinical presentations with their associated types of amyloidosis:

Nephrotic syndrome = Commonly seen with systemic amyloidosis Restrictive cardiomyopathy = Associated with mutated transthyretin in FMF Serosal inflammation = Can mimic appendicitis during FMF episodes Tongue enlargement = Classic finding associated with amyloidosis Signup and view all the answers

Match the proteins with their related amyloidosis conditions:

AL amyloid = Primary amyloidosis linked to plasma cell dyscrasias AA amyloid = Secondary amyloidosis due to serum amyloid-associated protein Amylin = Deposits associated with type II diabetes β2-microglobulin = Deposits primarily affecting joints in dialysis-associated amyloidosis Signup and view all the answers

Match the features with the correct systemic amyloidosis:

High SAA levels = Increased in chronic inflammatory states Fever episodes = Characteristic of Familial Mediterranean fever β-pleated sheet = Common structural configuration in amyloid proteins Multiple organ involvement = Notable aspect of systemic amyloidosis Signup and view all the answers

Match the associated disorders with their characteristics:

Multiple myeloma = Associated with primary amyloidosis and AL amyloid Chronic inflammation = Can trigger secondary amyloidosis due to increased SAA Genetic predisposition = Common in Familial Mediterranean fever cases Age-related amyloidosis = Often asymptomatic in individuals older than 80 years Signup and view all the answers

Match the causes of increased serum amyloid-associated protein (SAA) levels:

Chronic inflammatory diseases = Increases SAA and leads to secondary amyloidosis Acute phase reaction = SAA levels rise during inflammatory states Malignancy = Can contribute to elevated SAA levels Infection = May cause transient increases in SAA during acute episodes Signup and view all the answers

Match the organ involvement with the related amyloid condition:

Heart = Typically affected in restrictive cardiomyopathy due to mutated transthyretin Kidneys = Common organ involved in nephrotic syndrome in systemic amyloidosis Liver = Amylin deposits associated with type II diabetes affect this organ Intestinal tract = May show serosal inflammation during Familial Mediterranean fever Signup and view all the answers

Study Notes

Amyloidosis

Misfolded protein deposits in the extracellular space, damaging tissues.
Multiple proteins can deposit, all sharing features:
- β- pleated sheet configuration
- Congo red staining and apple-green birefringence under polarized light
Deposition can be systemic or localized.

Systemic Amyloidosis

Amyloid deposition in multiple organs; divided into primary and secondary amyloidosis.
Primary amyloidosis is systemic deposition of AL amyloid, derived from immunoglobulin light chain.
- Associated with plasma cell dyscrasias (e.g., multiple myeloma)
Secondary amyloidosis is systemic deposition of AA amyloid, derived from serum amyloid-associated protein (SAA).
- SAA is an acute phase reactant increased in chronic inflammatory states, malignancy, and Familial Mediterranean fever (FMF)
- FMF is due to a dysfunction of neutrophils (autosomal recessive) occurring in individuals of Mediterranean origin.
  - Presents with episodes of fever and acute serosal inflammation (can mimic appendicitis, arthritis or myocardial infarction).
  - High SAA during attacks deposits as AA amyloid in tissues.
Clinical findings of systemic amyloidosis are diverse since almost any tissue can be involved.
- Classic findings include:
  - Nephrotic syndrome; kidney is the most common organ involved.
  - Restrictive cardiomyopathy or arrhythmia
  - Tongue enlargement, malabsorption, and hepatosplenomegaly
Diagnosis requires tissue biopsy. Abdominal fat pad and rectum are easily accessible biopsy targets.
Damaged organs must be transplanted. Amyloid cannot be removed.

Localized Amyloidosis

Amyloid deposition is usually localized to a single organ.
Senile cardiac amyloidosis:
- Non-mutated serum transthyretin deposits in the heart.
- Usually asymptomatic; present in 25% of individuals > 80 years of age.
Familial amyloid cardiomyopathy:
- Mutated serum transthyretin deposits in the heart leading to restrictive cardiomyopathy.
- 5% of African Americans carry the mutated gene.
Non-insulin-dependent diabetes mellitus (type II):
- Amylin (derived from insulin) deposits in the islets of the pancreas.
Alzheimer disease:
- Aβ amyloid (derived from β-amyloid precursor protein) deposits in the brain forming amyloid plaques.
- Gene for β-APP is present on chromosome 21. Most individuals with Down syndrome (trisomy 21) develop Alzheimer disease by the age of 40 (early-onset).
Dialysis-associated amyloidosis:
- β2-microglobulin deposits in joints.
Medullary carcinoma of the thyroid:
- Calcitonin (produced by tumor cells) deposits within the tumor ('tumor cells in an amyloid background').

Amyloidosis

Amyloid is a misfolded protein that deposits in the extracellular space.
Multiple proteins can form amyloid, which share these features:
- β-pleated sheet configuration
- Congo red staining and apple-green birefringence under polarized light
Deposition can be systemic or localized

Systemic Amyloidosis

Amyloid deposition in multiple organs
Divided into primary and secondary amyloidosis
Primary amyloidosis: Systemic deposition of AL amyloid, derived from immunoglobulin light chain.
- Associated with plasma cell dyscrasias, such as multiple myeloma
Secondary amyloidosis: Systemic deposition of AA amyloid, derived from serum amyloid-associated protein (SAA).
- SAA is an acute phase reactant increased in chronic inflammation, malignancy, and familial Mediterranean fever (FMF).
- FMF is an autosomal recessive disorder affecting neutrophils, found in individuals of Mediterranean descent.
  - Presents with fever and acute serosal inflammation, mimicking conditions like appendicitis, arthritis, or myocardial infarction.
  - High SAA during attacks deposits as AA amyloid in tissues.

Clinical Findings of Systemic Amyloidosis

Diverse as almost any tissue can be affected.
Common findings include:
- Nephrotic syndrome (kidney is most common affected organ)
- Restrictive cardiomyopathy or arrhythmia
- Tongue enlargement, malabsorption, and hepatosplenomegaly
Diagnosis requires tissue biopsy.
- Abdominal fat pad and rectum are easily accessible biopsy targets.
Damaged organs must be transplanted as amyloid cannot be removed.

Localized Amyloidosis

Amyloid deposition localized to a single organ
Senile cardiac amyloidosis:
- Non-mutated serum transthyretin deposits in the heart.
- Usually asymptomatic, present in individuals over 80 years old.
Familial amyloid cardiomyopathy:
- Mutated serum transthyretin deposits in the heart leading to restrictive cardiomyopathy.
- 5% of African Americans carry the mutated gene.
Non-insulin-dependent diabetes mellitus (Type II):
- Amylin (derived from insulin) deposits in the islets of the pancreas.
Alzheimer Disease:
- Aβ amyloid (derived from β-amyloid precursor protein) deposits in the brain, forming amyloid plaques.
- The gene for β-APP is on chromosome 21, and individuals with Down syndrome (trisomy 21) often develop Alzheimer disease by age 40.
Dialysis-associated amyloidosis:
- β2-microglobulin deposits in joints.
Medullary carcinoma of the thyroid:
- Calcitonin (produced by tumor cells) deposits within the tumor, forming "tumor cells in an amyloid background".

Amyloidosis

Misfolded protein deposits in the extracellular space damaging tissues
Multiple proteins can deposit as amyloid, all proteins share these features:
- β- pleated sheet configuration
- Congo red staining and apple-green birefringence under polarized light
Deposition can be systemic or localized

Systemic Amyloidosis

Amyloid deposition in multiple organs, consists of primary and secondary amyloidosis
Primary amyloidosis:
- Systemic deposition of AL amyloid derived from immunoglobulin light chain
- Associated with plasma cell dyscrasias (e.g., multiple myeloma)
Secondary amyloidosis:
- Systemic deposition of AA amyloid derived from serum amyloid-associated protein (SAA)
- SAA is an acute-phase reactant, levels increase in chronic inflammatory states, malignancy, and Familial Mediterranean fever (FMF)
- FMF is due to a dysfunction of neutrophils (autosomal recessive), occurs in persons of Mediterranean origin
  - Presents with episodes of fever and acute serosal inflammation
    - Mimics appendicitis, arthritis, or myocardial infarction
  - High SAA during attacks deposits as AA amyloid in tissues
Clinical findings of systemic amyloidosis are diverse:
- Nephrotic syndrome (kidney is the most common organ involved)
- Restrictive cardiomyopathy or arrhythmia
- Tongue enlargement, malabsorption, and hepatosplenomegaly
Diagnosis requires tissue biopsy: Abdominal fat pad and rectum are easily accessible biopsy targets
Damaged organs must be transplanted, amyloid cannot be removed

Localized Amyloidosis

Amyloid deposition usually localized to a single organ
Senile cardiac amyloidosis:
- Non-mutated serum transthyretin deposits in the heart
- Usually asymptomatic, present in 25% of individuals >80 years of age
Familial amyloid cardiomyopathy:
- Mutated serum transthyretin deposits in the heart, leading to restrictive cardiomyopathy
- 5% of African Americans carry the mutated gene
Non-insulin-dependent diabetes mellitus (type II):
- Amylin (derived from insulin) deposits in the islets of the pancreas
Alzheimer disease:
- Aβ amyloid (derived from β-amyloid precursor protein) deposits in the brain, forming amyloid plaques
- Gene for β-APP is present on chromosome 21
- Most individuals with Down syndrome (trisomy 21) develop Alzheimer disease by the age of 40 (early-onset)
Dialysis associated amyloidosis:
- β2-microglobulin deposits in joints
Medullary carcinoma of the thyroid:
- Calcitonin (produced by tumor cells) deposits within the tumor (tumor cells in an amyloid background)

Amyloidosis

Amyloid is a misfolded protein that deposits in the extracellular space, damaging tissues
Amyloid is characterized by:
- β- pleated sheet configuration
- Congo red staining and apple-green birefringence when viewed microscopically under polarized light
Deposition can be either systemic or localized

### Systemic Amyloidosis

Amyloid deposition occurs in multiple organs, categorized into primary and secondary amyloidosis
Primary Amyloidosis: Systemic deposition of AL amyloid, derived from immunoglobulin light chains
- Associated with plasma cell dyscrasias, for example, multiple myeloma
Secondary Amyloidosis: Systemic deposition of AA amyloid, which is derived from serum amyloid-associated protein (SAA)
- SAA is an acute phase reactant, elevated in chronic inflammatory states, malignancy, and Familial Mediterranean fever (FMF)
- FMF is an autosomal recessive disorder, common in individuals of Mediterranean origin
  - Presents with fever and acute serosal inflammation (can mimic appendicitis, arthritis, or myocardial infarction)
  - High SAA during attacks deposits as AA amyloid in tissues
Clinical findings of systemic amyloidosis vary greatly, as tissue involvement can be wide-ranging
- Common findings:
  - Nephrotic syndrome (kidney is the most commonly affected organ)
  - Restrictive cardiomyopathy or arrhythmia
  - Tongue enlargement, malabsorption, and hepatosplenomegaly
Diagnosis requires tissue biopsy, easily accessed from abdominal fat pad and rectum
Damaged organs need to be transplanted, there's no way to remove amyloid

Localized Amyloidosis

Amyloid deposition is usually confined to a single organ
Senile Cardiac Amyloidosis:
- Non-mutated serum transthyretin deposits in the heart
- Usually asymptomatic, present in 25% of individuals over 80 years old
Familial Amyloid Cardiomyopathy:
- Mutated serum transthyretin deposits in the heart, leading to restrictive cardiomyopathy
- 5% of African Americans carry the mutated gene
Non-Insulin-Dependent Diabetes Mellitus (Type II):
- Amylin (derived from insulin) deposits in the islets of the pancreas
Alzheimer disease:
- Aβ amyloid (derived from β-amyloid precursor protein) deposits in the brain, forming amyloid plaques
- Gene for β-APP is located on chromosome 21, most individuals with Down syndrome (trisomy 21) develop Alzheimer disease by the age of 40 (early-onset)
Dialysis-Associated Amyloidosis:
- β2-microglobulin deposits in joints
Medullary Carcinoma of the Thyroid:
- Calcitonin (produced by tumor cells) deposits within the tumor ('tumor cells in an amyloid background')

Fundamentals of Pathology: Amyloidosis

Amyloidosis is a condition where misfolded proteins deposit in extracellular spaces, damaging tissues.
Amyloid can be identified by its:
- β-pleated sheet configuration
- Congo red staining and apple-green birefringence under polarized light
Systemic Amyloidosis affects multiple organs and is classified as either primary or secondary.
- Primary Amyloidosis is characterized by deposition of AL amyloid derived from immunoglobulin light chains.
  - Associated with plasma cell dyscrasias, like multiple myeloma.
- Secondary Amyloidosis involves the deposition of AA amyloid derived from serum amyloid-associated protein (SAA).
  - SAA is an acute phase reactant elevated during:
    - Chronic inflammatory states
    - Malignancies
    - Familial Mediterranean fever (FMF)
  - FMF is an autosomal recessive disorder affecting individuals of Mediterranean descent due to neutrophil dysfunction.
    - Presents with episodes of fever and acute serosal inflammation (mimicking appendicitis, arthritis, or myocardial infarction).
    - High SAA during attacks leads to AA amyloid deposition in tissues.
Clinical Manifestations of Systemic Amyloidosis are diverse due to the wide range of tissues affected but commonly include:
- Nephrotic Syndrome: Most common organ involvement.
- Restrictive Cardiomyopathy or Arrhythmia
- Tongue Enlargement, Malabsorption, and Hepatosplenomegaly
Diagnosis of Systemic Amyloidosis involves tissue biopsy, often obtained from the abdominal fat pad or rectum.
Treatment for Systemic Amyloidosis focuses on organ transplantation as amyloid cannot be removed.

Localized Amyloidosis

Localized amyloidosis typically affects a single organ.
Senile Cardiac Amyloidosis:
- Non-mutated serum transthyretin deposits in the heart.
- Usually asymptomatic, occurring in 25% of individuals over 80 years old.
Familial Amyloid Cardiomyopathy:
- Mutated serum transthyretin deposits in the heart, leading to restrictive cardiomyopathy.
- Affects 5% of African Americans carrying the mutated gene.
Non-Insulin-Dependent Diabetes Mellitus (Type II):
- Amylin (derived from insulin) deposits in the islets of the pancreas.
Alzheimer Disease:
- Aβ amyloid (derived from β-amyloid precursor protein) forms amyloid plaques in the brain.
- The gene for β-APP is found on chromosome 21.
- Most individuals with Down syndrome (trisomy 21) develop Alzheimer disease by age 40 (early-onset).
Dialysis-Associated Amyloidosis:
- β2-microglobulin deposits in joints.
Medullary Carcinoma of the Thyroid:
- Calcitonin (produced by tumor cells) deposits within the tumor, forming "tumor cells in an amyloid background".

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Test your knowledge on amyloidosis, particularly focusing on the characteristics of protein deposits, systemic amyloidosis, and its types. This quiz covers key concepts such as primary and secondary amyloidosis, their causes, and associated conditions. Perfect for students and professionals in medical fields.