Question: What is (are) Afibrinogenemia ?
Answer: Afibrinogenemia, sometimes called congenital afibrinogenemia, is an inherited blood disorder in which the blood does not clot normally. It occurs when there is a lack (deficiency) of a protein called fibrinogen (or factor I), which is needed for the blood to clot. Affected individuals may be susceptible to severe bleeding (hemorrhaging) episodes, particularly during infancy and childhood. Afibrinogenemia is thought to be transmitted as an autosomal recessive trait.
Source: GARD

Question: What are the symptoms of Afibrinogenemia ?
Answer: What are the signs and symptoms of Afibrinogenemia? In afibrinogenemia, with fibrinogen levels less than 0.1 g/L, bleeding manifestations range from mild to severe. Umbilical cord hemorrhage frequently provides an early alert to the abnormality. Other bleeding manifestations include the following: Epistaxis (nosebleeds) and oral mucosal bleeding Hemarthrosis (joint bleeding) and muscle hematoma (bruising) Gastrointestinal bleeding Menorrhagia and postpartum hemorrhage Traumatic and surgical bleeding Spontaneous splenic rupture and intracranial hemorrhage (rare) Miscarriage The Human Phenotype Ontology provides the following list of signs and symptoms for Afibrinogenemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the menstrual cycle 90% Epistaxis 90% Gastrointestinal hemorrhage 90% Gingival bleeding 90% Joint swelling 90% Spontaneous abortion 90% Intracranial hemorrhage 7.5% Autosomal recessive inheritance - Hypofibrinogenemia - Splenic rupture - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: Is Afibrinogenemia inherited ?
Answer: Is afibrinogenemia an inherited condition? Afibrinogenemia is inherited in an autosomal recessive manner, meaning that in order to be affected, an individual must have inherited two abnormal genes, one from each parent. The offspring of an individual with afibrinogenemia are obligate heterozygotes (carriers) for a disease-causing mutation in one of the fibrinogen genes. In order to be affected, these children would also have to inherit a mutated gene from their other parent.
Source: GARD

Question: What are the treatments for Afibrinogenemia ?
Answer: How might afibrinogenemia be treated? There is no known prevention or cure for afibrinogenemia. To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive: The liquid portion of the blood (plasma) A blood product containing concentrated fibrinogen (cryoprecipitate) through a vein (transfusion) Prophylactic therapy should also be considered for patients with recurrent bleeding episodes, CNS hemorrhage, or during pregnancy for women with recurrent miscarriage. Individuals with afibrinogenemia should consider the following as part of their management plan: Consultation with a hematologist/hemostasis specialist, particularly for patients who require fibrinogen replacement therapy. Genetic counseling and family studies, especially for individuals with extensive family history or those considering pregnancy. Follow-up by a comprehensive bleeding disorder care team experienced in diagnosing and managing inherited bleeding disorders. Vaccination with the hepatitis B vaccine because transfusion increases the risk of hepatitis.
Source: GARD