Term
Immunocyte dyscrasias with amyloidosis (primary amyloidosis)
Type, Disease, fibril protein, precursor protein, affected organ |
|
Definition
Systemic amyloidosis
aka amyloid light chain amyloidosis; monoclonal immunoglobulin light chain amyloidosis; MOST COMMON
Monoclonal B-cell proliferations Multiple myeloma and others (raccoon eye presentation)
AL (amyloid light chain)
Immunoglobulin light chains, chiefly λ type
Heart, liver, kidneys, spleen |
|
|
Term
Reactive systemic amyloidosis (secondary amyloidosis)
Disease, fibril protein, precursor, organ |
|
Definition
Systemic amyloidosis
Chronic inflammatory conditions (RA, chronic skin popping of narcotics: Infections causes = TB, osteomyelitis, bronchiectasis; lung abscess
AA
SAA
Liver, spleen, kidney, heart |
|
|
Term
Hemodialysis-associated amyloidosis
Hereditary amyloidosis
Disease, fibril protein, precursor, organ |
|
Definition
Systemic amyloidosis
Chronic renal failure; AB2m accumulates in pts on long term dialysis
Aβ2 m (Beta 2 microglobulin)
β2-microglobulin
Kidneys, joints (accumulations)
|
|
|
Term
Familial Mediterranean fever (systemic accumulation of AA)
Type, disease, fibril protein, precursor, organ |
|
Definition
Systemic amyloidosis
Polyneuropathies (accumulated mutant ATTR)
AA
SAA
Systemic, damaging inflammation response to minor trauma (FYI)
|
|
|
Term
Polyneuropathies (accumulated mutant ATTR)
Type, diseases, fibril protein, precursor, organ |
|
Definition
Systemic amyloidosis
Senile cardiac amyloidosis: Familial amyloid polyneuropathy
ATTR
Transthyretin (TTR)
Heart (senile cardiac amyloidosis): peripheral nerves (familial amyloid polyneuropathy)
|
|
|
Term
Senile cerebral; Cerebral amyloid angiopathy
Type, disease, fibril protein, precursor, organ |
|
Definition
Localized amyloidosis (only one)
Alzheimer disease +/- Alzheimer disease
AB (amyloid beta)
APP (amyloid precursor protein)
Brain
|
|
|
Term
Medullary carcinoma of thyroid
Type, fibril protein, precursor, organ |
|
Definition
Endocrine amyloidosis
Acal
Calcitonin
Thyroid |
|
|
Term
Islets of langerhans (amyloidosis)
Disease, fibril protein, precursor |
|
Definition
Endocrine amyloidosis
DM II
AIAPP
Islet amyloid peptide
Pancrease (islet tumor) |
|
|
Term
Isolated Atrial amyloidosis
Fibril protein, precursor |
|
Definition
Endocrine amyloidosis
AANF
Atrial Natriuritic Factor
Heart |
|
|
Term
X-Linked agammaglobulinemia
Genetic Defect, Clinical symptoms, labs, morphology |
|
Definition
Genetic Defect: Bruton Tyrosine Kinase (BTK); Defect BTK -> disordered B-cell maturation -> decreased Ig
Clinical: B-cell symptoms (low Ig) after 6 months (passive from mom before)
Labs: Low IgG IgA and IgM; normal WBC; low B cells
Morphology: decreased follicles in appendix, tonsils, peyers patches; risk of autoimmunity
Infections: Pyogenic Bacterial (staph, strep, H. influenza), enterovirus, giardia |
|
|
Term
Common Variable Immunodeficiency
Genetic Defect, Clinical symptoms, Labs, morphology, infections |
|
Definition
Genetic Defect: Congenital, acquired
Clinical Symptoms: B-cell symtoms in 2nd/3rd decade (10-30-y/o) i.e. recurrent sinopulmonary bacterial infections (pyogenic) enterovirus encephalitis, giardia lamblia, diarrhea, recurrent herpes virus;
Risk for autoimmunity, lymphoma and gastric CA
Labs: All Igs low (low IgG, IgA, IgM)
Morphology: Increased follicles -> enlarged lymph nodes, spleen, tonsils and GI |
|
|
Term
Selective IgA deficiency
Genetic Defect, clinical symptoms, labs, morphology |
|
Definition
Genetic Defect: Congenital, acquired
Clinical symptoms: B-cell symptoms (recurrent infections) including mucosal infection risk, especially from virus'; Pollen asthma/hayfever
Most are asymptomatic because IgG still present
Risk: autoimmune disease, anaphylactic transfusion (on 2nd transfution from IgA antibodies produced by pt)
Labs: Low IgA
Morphology: Bronchiectasis (sinopulmonary infection, necrotising pulomnary infection) |
|
|
Term
Hyper IgM
Genetic defect, clinical symptoms, Labs |
|
Definition
Genetic defect: X-linked, CD40 and CD40L mutation
Clinical: B-cell symptoms i.e increased pyogenic infections (IgG), increased mucosal infections (IgA)
Risk of pneumocystic jiroveci pneumonia; risk of autoimmune hematologic rxns including anemia, thrombocytopenia and neutropenia
Labs: Increased IgM and IgD; Decreased IgG, IgA, IgE |
|
|
Term
DiGeorge Syndrome
Genetic defect, clinical, labs, morphology |
|
Definition
Genetic defect: partial deletion of chromosome 22q11; defect in development of 3rd/4th pharyngeal pouches
Clinical: Cyanotic at birth (congenital heart defect) i.e. truncus arteriosus (transposition/tetrology of fallot); thymus is absent (low T cell) so T cell symptoms i.e. viral, fungal and protazoal infections; hypocalcemia tetany (no parathyroid glands)
Labs: Low WBCs (T cells), Ig normal
Morphology: Thymus is not seen on X-ray (largest thing on infant x-ray), decreased paracortical lymphs |
|
|
Term
SCID (severe combined immunodeficiency)
Genetic defect, Clinical, Labs, Morphology |
|
Definition
Genetic Defects: AR-ADA (adenosine deaminase); X-linked cytokine receptor; MHC classII deficiency
Clinical: At birth- Rash-GVH, Rash-diaper; B&T symptoms including sever infections by bacteria, viruses, fungi, protozoa; infection by opportunistic organisms; failure to thrive
Labs: Low WBCs (no T cells), Low Ig (no B cells)
Morphology: no tonsils, no thymus
|
|
|
Term
Hyper IgE (Job) Syndrom
Genetic defect, Clinical, Labs, Morphology |
|
Definition
Genetic defect: Inherited AD-STAT, AR-DOCK8
Clinical: Eczema; boils-staph, respiratory infections
Labs: Increased IgE, Increased eosinophils; IgG and IgA NORMAL |
|
|
Term
Wiskott-Aldrich Syndrome
Genetic defect, clinical, labs |
|
Definition
Genetic defect: X-linked WASP (wiskott-aldrich associated protein), a cytoskeletal protein that links membrain receptors -> defectiv signaling
Clinical: Eczema; B infections and progressive loss of T cells
Labs: Low IgM, High IgA, normal IgG, thrombocytopenia |
|
|
Term
Centriacinar emphysema
Additional morphology, pathogenesis, clinical, blebs |
|
Definition
CENTRIACINAR EMPHYSEMA MEANS SMOKER!
Additional morphology: upper lobes
Pathogenesis: Protease (PMNs)/antiprotease (A1AT, alpha1 antitrypsin) imbalance
Clinical: Pink puffer, hypoxemia, dyspnea, cachexia
Blebs: apical |
|
|
Term
Panacinar Emphysema
additional morphology, pathogenesis, clinical, blebs |
|
Definition
Usually Genetic
Additional morphology: lower lobes, anterior margin
Pathogenesis: Protease/antiprotease (A1AT) imbalance; decreased A1AT, congenital: PiZZ
Clinical: Pink puffer, dyspnea, hypoxemia, cachexia
Blebs: apical |
|
|
Term
Paraseptal-Distal
Additional morphology, pathogenesis, clinical, blebs |
|
Definition
Additional morphology: Tall, young adult; subpleural
Pathogenesis: usually in smokers but not always
Clinical: pneumothorax, recurrent; asymptomatic to symptomatic
Blebs: yes |
|
|
Term
Irregular emphysema
pathogenesis, clinical, blebs |
|
Definition
Pathogenesis: scarring with age
Clinical: Asymptomatic to symptomatic
Blebs: yes or no |
|
|
Term
Compensatory emphysema
additional morphology, pathogenesis, clinical, blebs |
|
Definition
Additional morphology: No lung damage
Pathogenesis: Follows ressection of lung
No clinical
Blebs: No |
|
|
Term
Interstitial Emphysema
Additional morphology, pathogenesis, clinical, blebs |
|
Definition
Additional morphology: In subcutaneous tissue; head/arms
Pathogenesis: Trauma; coughing w/ bronchile obstruction
Clinical: "crepitance"; swelling; resorbs
Blebs: NO |
|
|
