Rheumatology Book

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Amyloidosis

Aka: Amyloidosis
  1. Pathophysiology
    1. Disturbed endogenous protein metabolism
      1. Primary
      2. Secondary to chronic tissue breakdown
    2. Organ dysfunction arises from deposition
  2. Symptoms
    1. Asthenia
    2. Weight loss
    3. Paresthesias
    4. Organ specific symptoms
  3. Signs
    1. Organ specific signs
    2. Macroglossia
    3. Hypertension
    4. Lymphadenopathy
    5. Hepatomegaly
    6. Splenomegaly
    7. Purpura
    8. Nephrotic Syndrome
    9. Edema
    10. Joint Pain, muscle pain
    11. Serous cavity fluid
  4. Labs
    1. Biopsy under Congo red or thioflavine-T staining
      1. Exam of Gingiva, Rectum, involved tissues
      2. Green birefringence in polarized light
    2. Serum Immunoglobulins altered

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, アミロイドーシス, アミロイドシッカン, アミロイドーシス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
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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