As of 2016, there have been six mutations discovered to be associated with the accumulation of the mutated fibrinogen in the endoplasmic reticulum and consequential development of liver injury that may lead to liver cirrhosis, i.e. fibrinogen storage disease. Other fibrinogen mutations have also lead to their accumulation in the endoplasmic reticulum but have not been associated with liver injury perhaps because these fibrinogens are less toxic to the liver than those that cause liver injury. The following Table lists these 6 mutations. Note that all of these 6 mutations occur in the FGG gene, that all the mutations are missense mutations except for the deletion mutation of fibrinogen Anger, and that the Table reports the gene mutation site as found in cloned (as notated by "c.") rather than genomic DNA. Fibrinogen Aguadilla is the most common mutation known to cause fibrinogen storage disease. The abbreviations in this Table are defined in the previous Table. Diagnosis
The diagnosis of hypofibrinogenemia is indicated in individuals who have low levels (<1.5 gram/liter) of plasma fibrinogen as determined by both immunological (e.g. immunoelectrophoresis and (i.e. able to be clotted) methods. The ratio of immunological to functional fibrinogen masses should be ~1.0 as assayed with partial thromboplastin time, activated partial thromboplastin time, thrombin time, and reptilase time tests. These tests are used to distinguish hypofibrinogenemia from hypodysfibrinogenemia, a typically more severe disorder in which plasma fibrinogen levels are low and this fibrinogen includes at least in part dysfunctional fibrinogen.
Other causes: Drugs that can produce steatorrhea include orlistat, a slimming pill, or as adverse effect of octreotide or lanreotide, used to treat acromegaly or other neuroendocrine tumors. It can be found in Graves disease / hyperthyroidism. Medications
Orlistat (also known by trade names Xenical and Alli) is a diet pill that works by blocking the enzymes that digest fat. As a result, some fat cannot be absorbed from the gut and is excreted in the feces instead of being metabolically digested and absorbed, sometimes causing oily anal leakage. Vytorin (ezetimibe/simvastatin) tablets can cause steatorrhea in some people. Excess whole nuts in diet
Some studies have shown that stool lipids are increased when whole nuts are eaten, compared to nut butters, oils or flour and that lipids from whole nuts are significantly less well absorbed. Natural fats
Consuming jojoba oil has been documented to cause steatorrhea and anal leakage because it is indigestible.Consuming escolar and oilfish (sometimes mislabelled as butterfish) will often cause steatorrhea, also referred to as Gempylotoxism or Gempylid Fish Poisoning or keriorrhea. Artificial fats
The fat substitute Olestra, used to reduce digestible fat in some foods, was reported to cause leakage in some consumers during the test-marketing phase. As a result, the product was reformulated before general release to a hydrogenated form that is not liquid at physiologic temperature. The U.S. Food and Drug Administration warning indicated excessive consumption of Olestra could result in "loose stools"; however, this warning has not been required since 2003. Diagnosis
Steatorrhea should be suspected when the stools are bulky, floating and foul-smelling.