Factor I deficiency, also known as fibrinogen deficiency, is a rare inherited bleeding disorder related to fibrinogen function in the blood coagulation cascade. It is typically subclassified into four distinct fibrinogen disorders: afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. Afibrinogenemia is defined as a lack of fibrinogen in the blood, clinically <20 mg/deciliter of plasma. The frequency of this disorder is estimated at between 0.5 and 2 per million. Within the United States, afibrinogenemia accounts for 24% of all inherited abnormalities of fibrinogen, while hypofibrinogenemia and dysfibrinogenemia account for 38% each. Congenital hypofibrinogenemia is defined as a partial deficiency of fibrinogen, clinically 20–80/deciliter of plasma. Estimated frequency varies from <0.5 to 3 per million. Dysfibrinogenemia is defined as malfunctioning or non-functioning fibrinogen in the blood, albeit at normal concentrations: 200–400 mg/deciliter of plasma. Dysfibrinogenemia may be an inherited disease and therefore termed congenital dysfibrinogenemia or secondary to another disease and therefore termed acquired dysfibrinogenemia. The congenital disorder is estimated to a frequency varying between 1 and 3 per million. Hypodysfibrinogenemia is a partial deficiency of fibrinogen that is also malfunctioning. Hypodysfibrinogenemia is an extremely rare inherited disease.Clinically, these disorders are generally associated with an increased diathesis, i.e.
Studies show that athletes in sports requiring high spinal stability may also have this condition, as the activation of abdominal wall muscles can cause urinary alterations during activities. In some cases, sexual abuse can also be associated with chronic pelvic pain and pelvic floor dysfunction.Pelvic floor dysfunction can result after pelvic radiation, as well as other treatments for gynecological cancers. Diagnosis
Pelvic floor dysfunction can be assessed with a strong clinical history and physical exam, though imaging is often needed for diagnosis. As part of the clinical history, a healthcare provider may ask about obstetric history, including how many pregnancies and deliveries, what mode of delivery and if there were any complications during delivery. Providers will also ask about presence and severity of symptoms such as pelvic pain or pressure, problems with urination or defecation, painful sex, or sexual dysfunction. The physical exam may include both examination with a speculum to visualize the cervix and check for inflammation, as well as manual examination with the providers fingers to assess for pain and strength of pelvic floor muscle contraction.Imaging provides a more complete picture of the type and severity of pelvic floor dysfunction than history and physical exam alone. Historically, fluoroscopy with defecography and cystography were used. More recently, MRI has been used to complement and sometimes replace fluoroscopic assessment of the disorder. This technique is less invasive, and allows for less radiation exposure and increased patient comfort, though an enema is required the evening before the procedure.