Amyloidosis

Aka: Amyloidosis

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II. Epidemiology

  1. Overall Prevalence: <200,000 in U.S. affected

III. Pathophysiology

  1. Disturbed endogenous Protein Metabolism
    1. Primary
    2. Secondary to chronic tissue breakdown
  2. Organ dysfunction arises from extracellular amyloid deposition is soft tissue and organs
    1. Amyloid Proteins are beta-sheet, insoluble polymeric Protein fibrils
    2. More than 20 specific amyloidogenic Proteins, pathogenic in humans, have been identified
    3. Heterogeneous group of conditions with manifestations depending on the deposited Protein

IV. Types

  1. Many classification systems have been used (e.g. systemic, hereditary, localized)
    1. Modern classification is specific to the chemical analysis of the deposited Protein
  2. Common Types
    1. Amyloidosis Immunoglobulin Light Chain Fragment (AL, immunocyte dyscrasia, primary Amyloidosis)
      1. Incidence: 1 per 100,000 (1000 to 3000 new cases/year in U.S.)
      2. Small plasma cell clones produce misfolded monoclonal light chain Immunoglobulin fragments that deposit in tissues
      3. May be associated with Multiple Myeloma and other plasma cell dyscrasias
      4. Broad Protein deposition in the heart, Kidneys, liver and Gastrointestinal Tract
      5. Also deposits in the Peripheral Nervous System and Autonomic Nervous System
    2. Amyloidosis A Protein (AA, reactive Amyloidosis, secondary Amyloidosis)
      1. Reactive Amyloidosis to chronic inflammatory disease (e.g. Rheumatoid Arthritis, chronic infections)
      2. Associated with serum amyloid A deposition in jidneys, Gastrointestinal Tract and heart
    3. Amyloid Transport Protein Transthyretin (ATTR, senile systemic Amyloidosis)
      1. Less common Amyloidosis type (represents 10-20% of cases at tertiary centers)
      2. Associated with Alzheimer Disease, Neuropathy as well as heart deposition
    4. Dialysis-Related Amyloidosis (beta2M type)
      1. Associated with high serum concentrations of Protein precursors (beta2M)
      2. Associated with amyloid deposition in osteoarticular tissue, Gastrointestinal Tract and circulatory system
  3. Hereditary Amyloidosis
    1. Familial Mediterranean Fever
      1. Associated with serum amyloid associated (SAA) precursor Protein, and the AA fibril Protein
    2. Familial Amyloidotic Neuropathy
      1. Associated with the transthyretin precursor Protein, and the ATTR fibril Protein
    3. Apolipoprotein 1 (AApoA1)
      1. Amyloid deposition in the heart, Kidneys, liver, Peripheral Nervous System and skin
    4. Mutant Fibrinogen A alpha (AFib)
      1. Amyloid deposition in Kidneys and liver
    5. Lysozyme (ALys)
      1. Amyloid deposition in Kidneys and liver
  4. Endocrine Amyloidosis
    1. Thyroid
      1. Associated with the Calcitonin precursor Protein, and the A Cal fibril Protein
      2. Associated with development of Medullary carcinoma
    2. Islets of Langerhans
      1. Associated with the islet amyloid precursor Protein, and the AIAPP fibril Protein
      2. Associated with Type 2 Diabetes Mellitus
  5. Other Localized Amyloidosis
    1. Finnish-type (AGel, Gelsolin)
      1. Amyloid deposition in the Cornea resulting in Corneal lattice dystrophy and Corneal Neuropathy

V. Symptoms

  1. Asthenia
  2. Weight loss
  3. Paresthesias
  4. Organ specific symptoms (depending on amyloid deposition sites)

VI. Signs: Organ Specific

  1. Macroglossia
  2. Hypertension
  3. Lymphadenopathy
  4. Hepatomegaly
  5. Splenomegaly
  6. Purpura
  7. Nephrotic Syndrome
  8. Edema
  9. Joint Pain, Muscle pain
  10. Serous cavity fluid

VII. Labs

  1. Tissue Biopsy under Congo red or thioflavine-T staining
    1. Exam of Gingiva, Rectum, involved tissues
    2. Apple-Green birefringence in polarized light
  2. Plasma cell clone analysis
    1. Serum and urine electrophoresis (SPEP and UPEP) with immnofixation and free light chains
      1. Serum Immunoglobulins altered
    2. Immunofluorescence in situ hybridization (FISH)
    3. Skeletal Survey
  3. Gene Sequencing
    1. Hereditary Amyloidosis

VIII. Resources

  1. Bustamante (2023) Amyloidosis, StatPearls, Treasure Island, FL, accessed 4/22/2023
    1. https://www.ncbi.nlm.nih.gov/books/NBK470285/

IX. References

  1. Baloor and Nayak (2018) Exam Preparatory Manual for Undergraduate Medicine, Jaypee Brothers Medical Publication
  2. Baker (2012) Methodist Debakey Cardiovasc J +PMID: 23227278 [PubMed]

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Related Studies

Ontology: Amyloidosis (C0002726)

Definition (CHV) A group of diseases in which protein is deposited in specific organs or throughout the body.
Definition (CHV) A group of diseases in which protein is deposited in specific organs or throughout the body.
Definition (CHV) A group of diseases in which protein is deposited in specific organs or throughout the body.
Definition (CHV) A group of diseases in which protein is deposited in specific organs or throughout the body.
Definition (MEDLINEPLUS)

Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. The deposits can collect in organs such as the kidney and heart. This can cause the organs to become stiff and unable to work the way they should.

There are three main types of amyloidosis:

  • Primary - with no known cause
  • Secondary - caused by another disease, including some types of cancer
  • Familial - passed down through genes

Symptoms can vary, depending upon which organs are affected. Treatment depends on the type of amyloidosis you have. The goal is to help with symptoms and limit the production of proteins. If another disease is the cause, it needs to be treated.
Definition (NCI_NCI-GLOSS) A group of diseases in which protein builds up in certain organs (localized amyloidosis) or throughout the body (systemic amyloidosis). Amyloidosis may be either primary (with no known cause), secondary (caused by another disease, including some types of cancer, such as multiple myeloma), or hereditary (passed down from parents to children). Many organs are affected by amyloidosis. The organs affected may depend on whether the amyloidosis is the primary, secondary, or hereditary form.
Definition (NCI_CDISC) A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands.
Definition (NCI) A disorder characterized by the localized or diffuse accumulation of amyloid protein in various anatomic sites. It may be primary, due to clonal plasma cell proliferations; secondary, due to long standing infections, chronic inflammatory disorders, or malignancies; or familial. It may affect the nerves, skin, tongue, joints, heart, liver, spleen, kidneys and adrenal glands.
Definition (CSP) any disease manifested by the pathogenic accumulation of amyloid in organs and tissues.
Definition (MSH) A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.
Concepts Disease or Syndrome (T047)
MSH D000686
ICD9 277.3, 277.30
ICD10 E85 , E85.9
SnomedCT 190931005, 154769007, 17602002
English Amyloidoses, AMYLOIDOSIS, Amyloidosis NOS, Amyloidosis, unspecified, amyloid disease, amyloidosis (diagnosis), amyloidosis, Amyloid disease, Amyloidosis [Disease/Finding], amyloid diseases, amyloidoses, Amyloidosis NOS (disorder), Amyloidosis (disorder), disorder; amyloid, amyloid; disorder, Amyloidosis, NOS, Amyloidosis
French AMYLOSE, Maladie amyloïde, Amylose SAI, Amylose (maladie), Amylose, Amyloïdoses, Amyloïdose
Portuguese AMILOIDOSE, Amiloidose NE, Amiloidoses, Amiloidose
Spanish AMILOIDOSIS, Enfermedad amiloide, Amiloidosis NEOM, amiloidosis, SAI, amiloidosis, SAI (trastorno), amiloidosis (trastorno), amiloidosis, Alteraciones por depósito de amiloide, Amiloidosis
German AMYLOIDOSE, Amyloidose NNB, Amyloiderkrankung, Amyloidose, nicht naeher bezeichnet, Amyloidosen, Amyloidose
Italian Malattie della amiloidosi, Malattia dell'amiloide, Amiloidosi NAS, Amiloidosi
Dutch amyloïdziekte, amyloïdose NAO, amyloïd; stoornis, stoornis; amyloïd, Amyloïdose, niet gespecificeerd, amyloïdoses, amyloïdose, Amyloïdose
Japanese アミロイドーシスＮＯＳ, アミロイドーシス, アミロイド疾患, ｱﾐﾛｲﾄﾞｰｼｽ, ｱﾐﾛｲﾄﾞｼｯｶﾝ, ｱﾐﾛｲﾄﾞｰｼｽNOS
Swedish Amyloidos
Czech amyloidóza, Amyloidózy, Amyloidóza NOS, Amyloidóza
Finnish Amyloidoosi
Russian AMILOIDOZ, АМИЛОИДОЗ
Korean 아밀로이드증, 상세불명의 아밀로이드증
Croatian AMILOIDOZA
Polish Amyloidoza, Skrobiawica, Betafibryloza
Hungarian Amyloid betegség, Amyloidosisok, Amyloidosis, Amyloidosis k.m.n.
Norwegian Amyloidose
Derived from the NIH UMLS (Unified Medical Language System)

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