Term
|
Definition
| inefficient hematopoieses, increased cellularity in bone marrow, progressive cytopenia, ACQUIRED PSEUDO-PELGER-HUET ANOMALY (bilobed PMNs), international prognostic scoring system (blast counts/cytopenias/cytogenetics), can convert to AML, young patients can benefit from BMT, death from cytopenia complications |
|
|
Term
|
Definition
| failure to proliferate, pancytopenia, may be autoimmune/chemo/hepatitis/benzene, decreased cellularity in bone marrow, young people may benefit from BMT |
|
|
Term
| Paroxysmal Nocturnal Hemoglobinuria (SCD) |
|
Definition
| deficiency of PIG, acquired PIG-A mutations, increased susceptibility to complement attack, non-Ab hemolysis/iron deficiency, ESOPHAGEAL SPASM, atypical thrombosis, possible response to marrow injury from other SCDs, ANTICOAGULANTS FOR LIFE, BMT for young people |
|
|
Term
| Chronic Myelogenous Leukemia (Myeloproliferative) |
|
Definition
| t(9:22), fever/bone pain/fatigue, SPLENOMEGALY, leukocytosis, SPECTRUM OF MYELOCYTES/PROMYELOCYTES/MYELOBLASTS, hypercellular bone marrow, do a BM aspirate for nucleated cells, chemo/BMT, can progress to AML (5yrs) |
|
|
Term
| Polycythemia Vera (Myeloproliferative) |
|
Definition
| erythroid hyperplasia, JAK2 mutation, HEAT-INDUCED PRURITIS, ERYTHROMELALGIA, SPLENOMEGALY, increased Hgb/Hct, decreased EPO, phlebotomize to induce iron-deficiency, may convert to myelofibrosis, 7-10yr survival |
|
|
Term
| Essential Thrombocytosis (Myeloproliferative) |
|
Definition
| megakaryocyte proliferation, JAK2 mutation (50%), risk of bleeding/thrombosis, SPLENOMEGALY (<50%), thrombocytosis >1,000,000, lower platelets better prognosis, >10yr survival |
|
|
Term
| Agnogenic Myeloid Metaplasia w/ Myelofibrosis (Myeloproliferative) |
|
Definition
| fibroblast proliferation in marrow, JAK2 mutation(50%), non-clonal fibroblasts, clonal HSCs, extramedullary hematopoiesis, MASSIVE SPLENOMEGALY, left-sided pain/fatigue, TEARDROP RED CELLS, "DRY TAP" IN MARROW, transfuse for anemia, 5-7yr survival, death by cytopenia |
|
|
Term
| Acute Myelogenous Leukemia (AML) |
|
Definition
| most common leukemia of adults, cytopenia, SYMPTOMATIC ANEMIA/BRUISING/PETECHIAE, AUER RODS ON PMNS/MYELOBLASTS (most common in M3 subtype), bone marrow aspirate and biopsy, 70% remission, high-dose Ara-C for low-risk forms, Allogeneic BMT for high-risk forms |
|
|
Term
| Acute Promyelocytic leukemia (APML) |
|
Definition
| AML subtype M3, t(15;17), DIC, chemo added to ATRA to clear leukemia |
|
|
Term
|
Definition
| side-effect of ATRA, pulmonary infiltrates, fever/chills, respiratory failure, stop ATRA or treat with steroids |
|
|
Term
| Acute Lymphoblastic Leukemia (ALL) |
|
Definition
| most common childhood leukemia, CNS invovlement/crosses into CSF/protected by BBB, DO NOT GIVE VINCRISTINE INTRATHECALLY, fever/adenopathy/splenomegaly/cytopenia, L1/L2=prelymphoma, L3=Burkitt's lympoma, series of intense treatments to prevent relapse, allogeneic BMT for high risk, intrathecal therapy, 2 years oral maintenance, overall 30% cure rate |
|
|
Term
|
Definition
| genetic instability, production of Ab light/heavy chains, lytic lesions, inhibition of normal B cells, normocytic anemia, reticulocytopenia, Rouleaux formation in peripheral blood, myeloma kidney, hypercalcemia, increased plasma cells in marrow, treat if CRAB, 3-10yr survival |
|
|
Term
| Monoclonal Gammopathy of Uncertain Significance (PCD) |
|
Definition
| frequent in elderly, can progress to multiple myeloma |
|
|
Term
| Waldenstein's Macroglobinemia (PCD) |
|
Definition
| express IgM, spectrum of mature monoclonal lymphocytes, hyperviscosity (headache/confusion/bleeding/stroke), infections, HEPATOMEGALY, platelet dysfunction/bleeding, plasmaphoresis to temporarily remove Ab-making cells |
|
|
Term
|
Definition
| amorphous protein material (Ig light chain) deposits in tissues (heart/kidney/GI tract/nerves), high dose chemo and stem cell rescue, 2yr survival (less with kidney involvement) |
|
|
Term
|
Definition
| nodules separated by sclerotic band, Reed-sternberg cells (CD30/CD15), heterozygous cells outnumber neoplastic cells, large mono/multinucleated cells (Hodgkin-RS cells), Hodgkin Internation Prognostic Index |
|
|
Term
|
Definition
| t(14;18), monoclonal Bcells (CD19/CD20), follicle center cell origin (CD10), back-to-back follicle arrangment, centrocytes/blasts on high power |
|
|
Term
| Diffuse Large Bcell Lymphoma (DLBCL) |
|
Definition
| monoclonal Bcells, diffuse proliferation of lymphoid cells, large cells |
|
|
Term
|
Definition
| t(8;14)/t(8;22)/t(2;8), rapid facial swelling, monoclonal Bcells (CD10/CD19/CD20), starry sky appearance, deep-blue cytoplasm with vacuoles, 100% ki-67 positive |
|
|
Term
|
Definition
| t(11;114), monoclonal Bcells (CD19/CD20/CD5), small lymphocytes, irregular nucleus, cyclin D1 |
|
|
Term
| Small Lymphocytic Lymphoma |
|
Definition
| monoclonal Bcells (CD19/CD20/CD5/CD23), small lymphocytes, regular nucleus |
|
|
Term
|
Definition
| MALToma in stomach, monoclonal Bcells (CD19/CD20), glandular epithelial cells have lymphocytes |
|
|
Term
|
Definition
| long-term rash with plaques, lymphocytes (NKcells) in skin, CD4+ |
|
|
Term
| Chronic lymphoblastic leukemia (CLL) |
|
Definition
| mature circulating hematopoietic cells, proliferation of mature Bcells without chromosomal change, older patients, asymptomatic/abnormal CBC, adenopathy, cytopenia, Rai Staging, treat only if symptomatic/painful/cytopenic |
|
|
Term
|
Definition
| mature subset of bcells (CD103), neutropenia/thrombocytopenia, SPLENOMEGALY, atypical "hairy" lymphocytes (abundant cytoplasmic projections), splenectomy |
|
|
Term
| Sinus Histiocytosis with Massive Adenopathy (Rosai-Dorfman Disease) |
|
Definition
| massive node enlargements (cervical), macrophages with lymphocyte emeripolesis (cells in cytoplasm), common in children, no known cause, resolves spontaneously |
|
|
Term
| Histiocytic Sarcoma/lymphoma |
|
Definition
| cells resemble diffuse large cell lymphomas, histiocyte marker CD68, very aggressive and resist chemo (poor prognosis) |
|
|
Term
| Erythrophagocytic Syndromes |
|
Definition
| infiltration of nodes/viscera with erythrophagocytosis, response to EBV/lymphoma/neoplasm, large intravascular large cell lymphoma (histiocytic medullary reticulosis), fever/malaise/weight loss, high ferritin |
|
|
Term
| Langerhans Cell Histiocytosis (Histiocytosis X) |
|
Definition
| langerhans cells anywhere (skin), cytoplasmic tubule organelles (Binbeck granule/HX body), eosinophils participate in cytokine production, neoplastic histiocytes, LOH in 9p/22q, CD15/S-100/HLA-DR/CD1a, unifocal/multifocal/disseminated forms |
|
|
Term
|
Definition
| eosinophilic granuloma, lytic lesions in bone, older children/young adults, asymptomatic/benign |
|
|
Term
|
Definition
| young children, extends into soft tissues from bone, more agressive, mortality from CNS involvement |
|
|
Term
| Hand-Schuller-Christian Disease |
|
Definition
| multifocal langerhans of central skull/pituitary/hypothalamus |
|
|
Term
| Disseminated Langerhans (Letterer-Siwe) |
|
Definition
| 1-2yo, widely disseminated in all organs, skin rash/infiltrate, aggressive/possibly fatal, treat with chemo |
|
|
Term
|
Definition
| local or disseminated, wheal and flare (urticaria pigmentosa), c-kit/EGFRA mutations, part of myelodysplastic syndrome |
|
|
Term
|
Definition
| infiltration of Bcells, autoimmune response, myesthenia gravis, thymectomy |
|
|
Term
|
Definition
| neoplasm of epithelium with admixed thymocytes, benign/malignant, more aggressive if increased epithelium:thymocyte ratio, invasion of surrounding structures, associated with myasthenia gravis, improve after thymectomy |
|
|
Term
|
Definition
|
|
Term
|
Definition
| Tcell lymphomas in children/young adults, germ cell tumors from aberrant germ cell migration in midline, carcinoid tumors from germ cells/thymoma |
|
|
Term
|
Definition
| nasopharyngeal/replicates in epithelium, mostly asymptomatic, nonspecific/flu-like in early infection, fever/fatigue/sore throat/lymphadenopathy (typically bilateral), localizes to CD20 on Bcells, immortal Bcells express antigen and Ig, progeny release anti-EBV Ig, cytotoxic Tcell response to infected cells, SELF-LIMITING, overall reduced immunity, HETEROPHILE ANTIBODIES, develops over weeks, lymphocytosis, atypical lymphocytes |
|
|
Term
|
Definition
| usually due to transfusions, can be community-acquired, headache/cough/fever/hepatitis, always heterophile Ab negative, ELISA assays to test |
|
|
Term
|
Definition
| Reston strain in US primates, filamentous/pleiomorphic, full-body hemorrhage, ELISA for viral antigen, isolation of virus is dangerous, damage to vessel walls causes DIC and organ failure (liver/spleen/kidneys), death by shock/blood loss/coagulation, personal transmission via blood/body fluids, supportive care only |
|
|
Term
| Babesiosis (microti-US, divergens-Europe) |
|
Definition
| ixodes (deer tick) vector, white-footed mouse reservoir, NE/MW US & Washington/California, PEAK INFECTIONS MAY-OCT, increased risk in splenectomized/immunocompromised, PATHOGNOMONIC "X" MEROZOITE (tetrads), look for history of travel to East/West coast in Summer/Fall, ODD-SHAPED RING FORM, 2-step PCR for 238bp/154bp amplification, exchange transfusions for severe infection |
|
|
Term
| Schistosomiasis (mansoni-S.america/caribbean/africa, japonicum-asia, hematobium-africa/middle east) |
|
Definition
| aquatic snail vector, mature in portal vv., mating pair migrates to intestinal/bladder vv., 5-20yr infection, patholgy due to eggs (released in feces), DERMATITIS, KATAYAMA FEVER(4-8wks), INTESTITNAL/HEPATOSPLENIC/URINARY FIBROSIS, ELISA for adult antigen/eggs in feces, S.haematobium (straight tail) in urine, S. japonicum (no tail) and S. mansonsi (corner tail) in feces, watch for re-infection |
|
|
Term
| Lyme borreliosis (burgdorfori-US, afzelii-eurasia, garinii-eurasia) |
|
Definition
| ixodes (deer tick) vector, white-footed mouse reservoir, G(-), no LPS, spirochetes in dark-field microscopy, NE/SE/North/West Coast US, nymph primarily responsible for infection, 48h required for transmission, disseminates via lymphatics/avoids immune detection, LYMPHADENOPATHY/BULLSEYE RASH/FEVER, ELISA for antibodies (false positive w/ autoimmune disease/mono), chronic arthritis (burgdorfori sensu stricto), acrodermatitis chronic atrophicans (afzelii), neurologic disorder (garinii) |
|
|
Term
| Early localized Borreliosis (3d-1mo) |
|
Definition
| 60-80% erethyma migrans without pain/pruritis, fever/malaise, aggressive doxycycline |
|
|
Term
| Early disseminated Borreliosis (wks-mos) |
|
Definition
| arthritis, 10% cardiac symptoms, neuritis/Bell's palsy |
|
|
Term
| Late chronic Borreliosis (mos-yrs) |
|
Definition
| chronic arthritis, acrodermatitis atrophicas (B. afzelii-europe), deftriaxone/penicillin G, complicated chronic treatment |
|
|
Term
| Endemic relapsing fever (borreliosis) |
|
Definition
| 11 species, ornithodoros tick, worldwide |
|
|
Term
| Epidemic relapsing fever (B. recurrentis) |
|
Definition
| body lice vector, AFRICA/PERU/CHINA (poor sanitation), spirochetes in peripheral blood (bacteremic phase), inoculated within minutes of bite, fever at 3-5d, single major antigen exposed, recombines/re-emerges until cleared |
|
|
Term
| Rocky Mountain Spotted Fever (R. rickettsii) |
|
Definition
| "black measles", dog tick vector, most sever/most reported Rickettsial disease, SOUTHEASTERN US, APR-SEP (90%), 10-20% mortality w/o treatment, primarily in 5-19yo (66% <15yo), fever/headache/chills/malaise (5-10days), PATHOGNOMONIC MACULOPAPULAR RASH FROM EXTERMITIES TO PALMS/SOLES, endothelial infection causes hemorrhage (petechiae), SEVERE RESPIRATORY/GI/CNS/RENAL CASES, spreads from ECs via actin propulsion, ESCAPES PHAGOSOME TO REPLICATE IN CYTOPLASM, ATP/ADP translocase |
|
|
Term
| Rocky Mountain Spotted Fever (R. rickettsii) |
|
Definition
| "black measles", dog tick vector, most sever/most reported Rickettsial disease, SOUTHEASTERN US, APR-SEP (90%), 10-20% mortality w/o treatment, primarily in 5-19yo (66% <15yo), fever/headache/chills/malaise (5-10days), PATHOGNOMONIC MACULOPAPULAR RASH FROM EXTERMITIES TO PALMS/SOLES, endothelial infection causes hemorrhage (petechiae), SEVERE RESPIRATORY/GI/CNS/RENAL CASES, spreads from ECs via actin propulsion, ESCAPES PHAGOSOME TO REPLICATE IN CYTOPLASM, ATP/ADP translocase, PCR/IHC of skin biopsy |
|
|
Term
| Boutonneuse Fever (R. conorii) |
|
Definition
| mediterranean, ticks, much more mild |
|
|
Term
| Rickettsialpox (R. akari) |
|
Definition
| mites, self-limited febrile rash, similar to chicken pox |
|
|
Term
| Epidemic Typhus (R. prowazekii) |
|
Definition
| due to scratching lice feces into skin (poor sanitation), fever/maculopapular rash, myocarditis/encephalitis if severe, 10-60% fatality w/o treatment, persists in lymph nodes |
|
|
Term
|
Definition
| 4-50yr recurrance of epidemic typhus, more mild |
|
|
Term
| Endemic Typhus (R. typhi) |
|
Definition
| rat flea vector, rat reservoir, milder symptoms than epidemic typhus, 2% fatality w/o treatment |
|
|
Term
| Human monocytic ehrlichosis (HME) (E. chaffeensis) |
|
Definition
| tick vector, deer reservoir, leukopenia/thrombocytopenia, disseminated infections in organs |
|
|
Term
| Human Granulocytic Anaplasmosis (HGA) (A. phagocytophilia) |
|
Definition
| tick vector, deer/dogs/horses reservoirs, replicate in neutrophils |
|
|
Term
| Ehrlichosis (E. chafeensis, A. phagocytophila) |
|
Definition
| resembles RMSF, no rash, secondary infection due to leukopenia, spreads to other organs via microvascular/lymphatics, serologoy/PCR/blood smear |
|
|
Term
|
Definition
| G(-), grows slowly on blood agarangiogenic factor and deforming factor, culture/IFA/ELISA/silver stain/skin biopsy, erythromycin |
|
|
Term
| Cat Scratch Fever (B. hensellae) |
|
Definition
| papule/pustule at injury site, spreads via lymphatics, fever/malaise, meningitis/ocular infection if severe |
|
|
Term
| Trench fever (B. qunitana) |
|
Definition
| lice vector, epicellular on RBCs |
|
|
Term
| Oroyo fever (B. bacilliformis) |
|
Definition
| sandfly vector, S. America, motile/flagellated, intraerythrocytic |
|
|
Term
| Bacilliary Angiomatosis (B. henselae) |
|
Definition
| in immunocompromised patients, cutaneous lichenoid plaques, endothelial infection/vasculitis, many lesions, bleeding, painful, respond to antibiotics, capillary proliferation, neutrophilia, bacteria in skin biopsy |
|
|
Term
| Immune Thrombocytopenia (ITP) |
|
Definition
| thrombocytes <100,000, exclude drug-induced cases, no splenomegaly, Abs against platelets, more common in women, petechia/mucosal bleeding, increased megakaryocytes/decreased platelets, steroids or IVIG, common relapse, splenectomy if steroids fail, rarely fatal |
|
|
Term
|
Definition
| deficiency of gpIb/Ix (CD42), failure to adhere to endothelium, autosomal recessive |
|
|
Term
| Glanzmann's thrombasthenia |
|
Definition
| deficiency of gpIIb/IIIa (CD41/CD61), failure to aggregate with ADP, autosomal recessive |
|
|
Term
|
Definition
| congenital or acquired, young age (25-40) at first thrombosis, provoked by surgery/estrogen/pregnancy |
|
|
Term
|
Definition
| Antithrombin III deficiency, Protein C/S deficiency, Factor V Leiden (20-60%), dysfibrinogenemia, fibrinolysis, homocystinemia |
|
|
Term
|
Definition
| pregnancy, inflammation, myeloproliferation disorders, antiphospholipid syndrome, post-surgery, PNH |
|
|
Term
|
Definition
| 93% mutation G1691A, impaired degradation of Factor V by protein C, increased thrombin, test by ratio of aPTT of patient v. purifed APC, false results if on heparin |
|
|
Term
|
Definition
| deficiency of Factor VIII, X-linked, 1:5000-1:10000 males, 20-30% no family history |
|
|
Term
|
Definition
| deficiency of Factor IX, X-linked, <1% severe, 1-5% moderate, >5% mild, 1:30,000 males, 33% no family history |
|
|
Term
|
Definition
| deficiency of Factor XI, autosomal |
|
|
Term
|
Definition
| test with factor assay, prolonged aPTT, joint/muscle bleeding, easy bruising, lack of skin/mucosa bleeding after cuts, postoperative bleeding, treat with Factor VIII/IX, severe recurrent hemarthrosis (0-2% factor), moderate occasional hemarthrosis (2-5% factor), mild bleeding post-trauma (5-25% factor) |
|
|
Term
|
Definition
| deficiency of vWF glycoprotein, increased bleeding time |
|
|
Term
|
Definition
| partial quantitative defect (70%) |
|
|
Term
|
Definition
| qualitative defect (25%), 2A-no high MW, 2B-increased gp1b affinity, 2M-no absence of high MW, 2N-decreased VIII:C affinity |
|
|
Term
|
Definition
| complete quantitative defect (<1%) |
|
|
Term
| Diffuse Intravascular Coagulation (DIC) |
|
Definition
| increased aPTT/PT, decreased platelets/increased fibrinogen, wedespread fibrin deposition, organ failure, depletion of Factors II,VII,IX/platelets/antithrombin III, due to sepsis/trauma/cancer/toxins/pregnancy/transfusion/aortic aneurysm/clinical bleeding, remove causative agent, resupply factors, inhibit fibrinolysis/tissue factor activation, give APC/antithrombin III |
|
|
Term
| Tularemia (F. tularensis) |
|
Definition
| insect vectors, rabbit reservoir, ingestion/inhalation/animal bite, difficult to culture/isolate, acute fever, sudden severe respiratory illness, ulcers (3-5dys), early lympahdenitis/systemic symptoms, systemic spread to spleen/liver/bone marrow/lung, no prophylaxis, live attenuated vaccine for risk groups, granulomas in reticuloendothelium in less severe forms (survive in phagocytes) |
|
|
Term
|
Definition
| ground squirrel flea vector, blockage in flea digestive tract, bubos, specific serology, culture on blood agar, must treat in 24-36h, must report to health authorities, prevent w/ rodent control |
|
|
Term
|
Definition
| transmitted by milk/respiratory/contact, cattle reservoir, TEXAS/WYOMING, HISTORY OF TRAVEL TO MIDDLE EAST, chronic phase aches/pains/weakness/fatigue(>1yr), complications from granulomas/lymphadenopathy/spleen/hepatitis/osteomyelitis/endocarditis, spread via lymphatics, lives in phagocytes of liver/spleen/marrow/lymph, titer >1:160 presumptive, CNS/endocarditis (6-9mo), 5% relapse infection |
|
|
Term
| Lymphogranuloma Venereum (Chlamydia trachomatis) |
|
Definition
| obligate intracellular bacter, PATHOGNOMONIC CLUSTERS, small painless vsicular lesion (first stage), inguinal buboes (second stage), ELISA for group-specific LPS/antigens, improve sanitation/sexual practices |
|
|
Term
| Toxoplasmosis (Toxoplasmo gandii) |
|
Definition
| infects all cell types, from contact with oocytes in cat feces, 33% risk of fetal infection from affected mothers, infection rate highest in 3rd trimester, fetal death highest in 1st trimester, CLASSICAL TRIAD CHORIORETINITS/HYDROCEPHALUS/INTRACRANIAL CALCIFICATION, asymptomatic infants develop abnormalities, MUST DIAGNOSE IN MOTHERS, culture from placenta/umbilicus/infant serum |
|
|
Term
|
Definition
| decreased production of vitamin K factors (II,VII,IX,X), decreased factor V, prolonged PT/PTTT, dysfibrinogenemia, may or may not correct with mixing study |
|
|
Term
| Anti-phospholipid Antibody Syndrome |
|
Definition
| neutralizes phospholipid (cardiolipin) on endothelial surface, prolongs PTT, does not correct with mixing study, VENOUS THROMBOSIS, misccarriage/thrombocytopenia/hemolysis |
|
|
Term
|
Definition
| decreased production of factors II,VII,IX,X, prolongs PT/PTT (usually only PT), corrects with mixing study, due to malabsorption of fat/antibiotics/warfarin |
|
|
Term
| Drug-induced Platelet Dysfunction |
|
Definition
| due to aspirin, NSAIDs, clopidogrel, integrilin, or abciximab |
|
|
Term
|
Definition
| prolongs bleeding time, abnormal platelet aggregation, dialysis is best |
|
|
Term
| Thrombotic Thrombocytopenia Purpura |
|
Definition
| decreased protease activity against vWF, vWF multimers cause platelet aggregation, painful small vessel ischemia, inherited/autoimmune, faver/renal failure/neurologic dysfunction/thrombocytopenia, shearing of red cells (microangiopathic hemolysis), fresh frozen plasma to remove anti-vWF antibodies, 30% relapse |
|
|
Term
| Heparin-Induced Thrombocytopenia (HIT) |
|
Definition
| antibody against platelet factor 4 and heparin, rapid clearance of Ab-coated platelets, sever thrombosis (unknown cause), decreased platelets after 7-14 days of heparin (antibodies produced), STOP HEPARIN ASAP, NEVER GIVE AGAIN (SEVERE THROMBOCYTOPENIA), switch to another anticoagulant, 3mo coumadin to prevent thrombosis |
|
|
Term
|
Definition
| stop warfarin until INR 2-3 (INR 3-5), give vitamin K (INR>5), causes severe birth defects, nasal hypoplasia/epiphyseal calcification (1st trimester), CNS defects (2nd-3rd trimesters) |
|
|
Term
| Immune acute transfusion reactions |
|
Definition
| hemolysis,fever,urticaria,anaphylaxis, TRALI |
|
|
Term
| Non-immune acute transfusion reactions |
|
Definition
| hemolysis, sepsis, circulatory collapse, metabolism (hypothermia/citrate toxicity/hyper or hypokalemia) |
|
|
Term
| Immune delayed transfusion reactions |
|
Definition
| hemolysis, alloimmune, platelet reaction, GVHD |
|
|
Term
| Non-immune delayed transfusion reaction |
|
Definition
|
|
Term
| Trasfusion-Related Acute Lung Injury (TRALI) |
|
Definition
| noncardiogenic pulmonary edema, due to transfer of donor granulocytes/HLA antibodies, PMN cytokines alter vascular permeability |
|
|
Term
| Prothrombin (Factor II) mutation |
|
Definition
| F2 G2010A in 2-5% caucasions, increased thrombotic risk, incomplete autosomal dominance/variable penetrance, heterozygoes 2-4x risk of thrombosis, increased risk with FVL R506Q (1-5% VTE) |
|
|
Term
|
Definition
| deficiency of MTHFR cofactor required for remthylation of homocystine, increased risk of arteriosclerosis and VTE, C677T/A1289C mutations, homozygous C677T increased risk of homocystinemia/heart disease, comopound heterozygotes possible increased risk, single heterozygotes/homozygous A1289C no increased risk |
|
|
Term
| Purpura Fulminans Neonatilis |
|
Definition
| complete deficiency of Protein C, fatal |
|
|
