Congenital afibrinogenemia

Congenital afibrinogenemia
Classification and external resources
ICD-10	D 65
ICD-9	286.3
OMIM	202400
DiseasesDB	307
MedlinePlus	001313
eMedicine	ped/3042
MeSH	D000347

Congenital afibrinogenemia is a rare inherited blood disorder in which the blood does not clot normally due to a lack of or a malfunction involving fibrinogen, a protein necessary for coagulation. ^[1]

Fibrinogen is also known as Factor I. Its lack is inherited in an autosomic recessive way. It can express itself with excessive bleeding since birth (bleeding from umbilical cord, easy bruising, bleeding after circumcision) ^[2]

Diagnostic tests

When a problem of fibrinogen is suspected, the following tests can be ordered:

PTT

Fibrinogen level in blood (total and clottable)

Reptilase time

Trombin time^[3]

Condition	Prothrombin time	Partial thromboplastin time	Bleeding time	Platelet count
Vitamin K deficiency or warfarin	prolonged	normal or mildly prolonged	unaffected	unaffected
Disseminated intravascular coagulation	prolonged	prolonged	prolonged	decreased
von Willebrand disease	unaffected	prolonged	prolonged	unaffected
Hemophilia	unaffected	prolonged	unaffected	unaffected
Aspirin	unaffected	unaffected	prolonged	unaffected
Thrombocytopenia	unaffected	unaffected	prolonged	decreased
Liver failure, early	prolonged	unaffected	unaffected	unaffected
Liver failure, end-stage	prolonged	prolonged	prolonged	decreased
Uremia	unaffected	unaffected	prolonged	unaffected
Congenital afibrinogenemia	prolonged	prolonged	prolonged	unaffected
Factor V deficiency	prolonged	prolonged	unaffected	unaffected
Factor X deficiency as seen in amyloid purpura	prolonged	prolonged	unaffected	unaffected
Glanzmann's thrombasthenia	unaffected	unaffected	prolonged	unaffected
Bernard-Soulier syndrome	unaffected	unaffected	prolonged	decreased or unaffected

References

^ Neerman-Arbez M, de Moerloose P (2007). "Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations". Hum. Mutat. 28 (6): 540–53. doi:10.1002/humu.20483. PMID 17295221.
^ National Hemophilia foundation http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx?menuid=184&contentid=44&rptname=bleeding
^ Brick Wendy,MD, Burgess Rusell,MD, Dysfibrogenemia http://emedicine.medscape.com/article/199723-diagnosis

Pathology: hematology · hematologic diseases of RBCs and megakaryocytes / MEP (D50-69,74, 280-287)

Red
blood cells

↑

Poly- cythemia	Polycythemia vera

↓

Anemia

Nutritional

Micro-: Iron deficiency anemia (Plummer-Vinson syndrome)

Macro-: Megaloblastic anemia (Pernicious anemia)

Hemolytic
(mostly Normo-)

Hereditary	enzymopathy: G6PD · glycolysis (PK, TI, HK) hemoglobinopathy: Thalassemia (alpha, beta, delta) · Sickle-cell disease/trait · HPFH membrane: Hereditary spherocytosis (Minkowski-Chauffard syndrome) · Hereditary elliptocytosis (Southeast Asian ovalocytosis) · Hereditary stomatocytosis

Acquired	Autoimmune (WAHA, CAD, PCH) membrane (PNH) MAHA · TM (HUS) Drug-induced autoimmune · Drug-induced nonautoimmune Hemolytic disease of the newborn

Aplastic
(mostly Normo-)

Hereditary: Fanconi anemia · Diamond–Blackfan anemia

Acquired: PRCA · Sideroblastic anemia · Myelophthisic

Blood tests

MCV (Normocytic, Microcytic, Macrocytic) · MCHC (Normochromic, Hypochromic)

Other

Methemoglobinemia · Sulfhemoglobinemia · Reticulocytopenia

Coagulation/
coagulopathy

↑

Hyper- coagulability	primary: Antithrombin III deficiency · Protein C deficiency/Activated protein C resistance/Protein S deficiency/Factor V Leiden · Hyperprothrombinemia acquired:Thrombocytosis (essential) · DIC (Congenital afibrinogenemia, Purpura fulminans) · autoimmune (Antiphospholipid)

↓

Hypo-
coagulability

Thrombocytopenia	Thrombocytopenic purpura: ITP (Evans syndrome) · TM (TTP) Heparin-induced thrombocytopenia · May-Hegglin anomaly

Platelet function	adhesion (Bernard–Soulier syndrome) · aggregation (Glanzmann's thrombasthenia) · platelet storage pool deficiency (Hermansky–Pudlak syndrome, Gray platelet syndrome)

Clotting factor	Hemophilia (A/VIII, B/IX, C/XI) • von Willebrand disease • Hypoprothrombinemia/II · XIII · Dysfibrinogenemia

M: MYL

cell/phys (coag, heme, immu, gran), csfs

rbmg/mogr/tumr/hist, sysi/epon, btst

drug (B1/2/3+5+6), btst, trns