Diseases

Factor 2 deficiency

Alternative Names: Hypoprothrombinemia; Prothrombin deficiency. Factor II deficiency is a blood clotting (coagulation) problem caused by a lack of a substance (prothrombin) that is needed for blod to clot.

Factor V deficiency

Alternative Names: Parahemophilia; Owren's disease Factor V deficiency is an inherited condition that affects the ability of the blood to clot.

Factor V Leiden thrombophilia

Factor V Leiden thrombophilia is a common genetic disorder that leads to a predisposition or increased chance to develop blood clots in the veins (venous thrombosis).

Factor X deficiency

Factor X deficiency is a rare condition that affects the blood's ability to clot. The severity of the condition and the associated signs and symptoms can vary significantly from person to person. Common features of factor X deficiency may include easy bruising, frequent nosebleeds, bleeding gums, blood in the urine, and prolonged bleeding after minor injuries. Affected women may also experience heavy menstrual bleeding and may have an increased risk for first trimester miscarriage. 

Acquired (non-inherited) factor X deficiency, which is the most common form of the condition, generally occurs in people with no family history of the condition. Acquired factor X deficiency has a variety of causes including liver disease, vitamin K deficiency, exposure to certain medications that affect clotting, and cancers.

The inherited form of factor X deficiency (congenital factor X deficiency) is caused by mutations in the F10 gene and is inherited in an autosomal recessive manner. Treatment aims to control bleeding through intravenous (IV) infusions of plasma or concentrates of clotting factors.

Congenital factor X deficiency is among the most rare factor disorders, affecting an estimated one individual per 500,000-1,000,000 population worldwide. Only 50 cases of congenital factor X deficiency have been documented worldwide. 

Factor XI deficiency- congenital

Factor XI deficiency, congenital: A rare inherited bleeding disorder characterized by a deficiency of a blood protein called Factor XI which is needed for the blood clotting process. The condition is generally quite mild but the severity of the condition is variable.

Factor XII deficiency

Factor XII deficiency is an inherited disorder with no symptoms. Factor XII is a protein involved in blood clotting. A deficiency of this factor does not cause abnormal bleeding in the affected person, but the blood takes longer than normal to clot in a test tube.

Factor XIII Deficiency

Factor XIII deficiency is a rare, genetic bleeding disorder characterized by deficiency of clotting factor XIII. Clotting factors are specialized proteins that are essential for the blood to clot properly. Specifically, individuals with factor XIII deficiency form blood clots like normal, but these clots are unstable and often break down, resulting in prolonged, uncontrolled bleeding episodes. Factor XIII also affects other processes in the body and is known to play a role in proper wound healing and pregnancy. The severity of factor XIII deficiency bleeds can vary greatly from one person to another. Some individuals may have only mild symptoms; other individuals may have severe, life-threatening bleeds. With early diagnosis and prompt treatment, the more serious bleeds of factor XIII deficiency can be avoided. FXIII consists of two subunits: subunit A and subunit B. Most of the Factor XIII deficiency states are caused by mutations in subunit A; very few have a mutation in subunit B. Factor XIII deficiency is inherited as an autosomal recessive disorder.

Source: NORD

Fairbank disease

Fairbank disease: A rare inherited disorder that affects the secondary growth centers of bones usually in the hips, knees and ankles and results in mild dwarfism.

Fallopian tube cancer

Fallopian tube cancer develops in the tubes that connect a woman's ovaries and uterus. It is very rare and accounts for only 1-2% of all gynecological cancers. 

Fallopian tube cancer occurs when normal cells in one or both tubes change and grow in an uncontrolled way, forming a mass called a tumor. Cancer can begin in any of the different cell types that make up the fallopian tubes. The most common type is called adenocarcinoma (a cancer of cells from glands). Leiomyosarcoma (a cancer of smooth muscle cells) and transitional cell carcinoma (a cancer of the cells lining the fallopian tubes) are more rare. 

While some fallopian tube cancers actually begin in the tubes themselves, fallopian tube cancer is more often the result of cancer spreading from other parts of the body to the tubes.

Fallot tetralogy

Named for the French physician who first described it in 1888, tetralogy of Fallot is a type of heart defect that is present at birth (congenital heart disease). According to the American Heart Association, it occurs in less than 5 out of 10,000 babies. It involves a tetralogy (a complex of four conditions) that includes: Ventricular septal defect (VSD). A hole in the wall (septum) between the heart’s two lower chambers (the ventricles). The VSD is the prime defect with tetralogy of Fallot and leads to all the other conditions seen. This particular VSD however is different than most other VSDs in that its position is shiftCongenital heart disease is any heart abnormality, defect or malformation present from birth.ed in such a way that there is a tendency for much of the blood from the right ventricle to be shunted toward the left ventricle. This tendency to have the blood criss-cross at the VSD results in a significant amount of oxygen poor blood being pumped out to the body without going to the lungs first. Hypertrophy (enlargement and thickening) of the right ventricle. An enlargement of the muscle tissue of the right ventricle due to overexertion, usually as a result of increased blood flow to the right side of the heart (caused by the VSD) and by blockage of the blood being pumped out to the lungs. Much of the hypertrophy is secondary to the unusual location of the VSD causing some of the muscle bundles in the right ventricle to abnormally thicken. This will block the channel through which the right ventricle pumps blood out to the lungs. Pulmonary stenosis. A narrowing (stenosis) of the pulmonary valve or the channel in the right ventricle leading to the pulmonary valve. This narrowing decreases the amount of oxygen-poor blood from the right ventricle that can travel through the pulmonary artery to the lungs. Thus, there is a decreased blood flow to the lungs. Displaced, deviated or overriding aorta. This is another effect of the location of the VSD. Instead of opening into the left ventricle, which pumps oxygen-rich blood into the aorta, the main artery out to the body opens into both the right and left ventricle. This allows excess blood in the right ventricle (usually as a result of pulmonary stenosis) to be pumped out to the body. Because the body is receiving so much oxygen-poor blood, the skin of the child often has a bluish tint (cyanosis, or blue baby when occurring in infants). Prenatal heart circulation is different than adults and the heart continues to evolve after birth. The combination of these four heart defects lead to reduced blood flow to the lungs because less oxygen-poor blood can squeeze through the pulmonary valve to get to the lungs, and more oxygen-poor blood is pumped to the tissues of the body.

Familial adenomatous polyposis

Familial adenomatous polyposis is a rare, inherited condition that causes extra tissue (polyps) to form in your large intestine (colon) and rectum. Polyps can also occur in the upper gastrointestinal tract, especially the upper part of your small intestine (duodenum). If untreated, the polyps in the colon and rectum are likely to become cancerous in your 40s. Some people have a milder form of the condition called attenuated familial adenomatous polyposis (AFAP) which is generally characterized by fewer colon polyps (an average of 30) and a delay in the development of colon cancer by 10-15 years.

Most people with familial adenomatous polyposis eventually need surgery to remove the large intestine to prevent cancer. The polyps in the duodenum also can develop cancer, but they can usually be managed by careful monitoring and removing polyps regularly.

About:
Familial adenomatous polyposis is caused by a defect in the adenomatous polyposis coli (APC) gene. Most people inherit the genetic abnormality from a parent. But in about 25 percent of cases, the genetic mutation occurs spontaneously.

The abnormal gene causes hundreds or even thousands of polyps to grow in your colon and rectum, usually starting by your mid-teens. The polyps are nearly 100 percent certain to develop into colon cancer or rectal cancer by the time you're in your 40s.
Familial adenomatous polyposis can cause other complications:

  • Duodenal polyps. These polyps grow in the upper part of your small intestine and may become cancerous. But with careful monitoring, duodenal polyps can often be detected and removed before cancer develops.
  • Periampullary polyps. These polyps occur where the bile and pancreas ducts enter the duodenum (ampulla). Periampullary polyps might become cancerous but can often be detected and removed before cancer develops.
  • Desmoids. These noncancerous masses can arise anywhere in the body but often develop in the stomach area (abdomen). Desmoids can cause serious problems if they grow into nerves or blood vessels or exert pressure on other organs in your body.
  • Other cancers. Rarely, FAP can cause cancer to develop in your thyroid gland, central nervous system, adrenal glands, liver or other organs.
  • Noncancerous skin tumors.
  • Noncancerous bone tumors.
  • Pigment changes in the retina of your eye.
  • Dental abnormalities.

Familial aortic dissection

Also called: Type A Aortic Dissection, Dissecting Aortic Aneurism, Descending Aortic Dissection, Acute Aortic Dissection, Ascending Aortic Dissection, Type B Aortic Dissection, Torn Aorta An aortic dissection is a tear in the inner lining of the aorta (the main artery that carries oxygen-rich blood from the heart to the rest of the body), creating a space between the inner and outer layers.

Dissections can be either ascending or descending depending on whether the vessel damage occurred in the part of the aorta that rises up from the heart (a type A dissection) or the part that descends down through the chest (a type B dissection). While both are serious, the ascending aortic dissection is considered the more dangerous of the two and usually requires emergency surgery. Descending aortic dissections are more common and can usually be treated with medical therapy. Aortic Aneurysm The incidence of an aortic dissection is estimated to occur in 2 to 4 per 100,000 person-years, and roughly 2,000 new cases of aortic dissections are reported each year in the United States. However, the condition may be underreported because it is difficult to determine whether death was caused by an aortic dissection, a heart attack or sudden cardiac death without an autopsy. When untreated, an acute aortic dissection is fatal to more than a third of patients within 24 hours, half of patients within 48 hours and three-quarters of patients within two weeks of onset.

Familial band heterotopia

Familial band heterotopia: A rare inherited disorder where a part of the brain tissue is misplaced during development. More specifically, a layer of brain tissue is abnormally located in the white matter.

Familial cerebral cavernous malformation

Familial cerebral cavernous malformation: Another name for Cerebral cavernous malformations (or close medical condition association). Cerebral cavernous malformations: A rare disorder where a group of small abnormal blood vessels in the brain. These blood vessels become enlarged, irregularly shaped and thin walled. They swell when filled with blood and are then often unable to return to their original shape and the thin walls means that they can leak blood and cause bleeding in the brain. Severity of symptoms depends on the number and location of the lesions.

Familial Chylomicronemia Syndrome

Familial chylomicronemia syndrome (FCS) is a rare genetic disorder estimated to affect 1-2 individuals per million. It is a serious disease that prevents the body from breaking down fats consumed through the diet, or triglycerides. These triglycerides are carried in the blood by large structures called chylomicrons. Chylomicrons help move triglycerides to different parts of the body where they are needed for energy and fat storage.

Familial cylindromatosis

Familial cylindromatosis: A rare familial condition characterized by the development of multiple little tumors on various parts of the body that grow hair. The tumors originate mainly from the sweat and scent producing glands. The growths occur mainly on the head and neck. Tumors close together may merge and ulcerate or become infected. The tumors usually start after the first decade and continue to grow slowly in size and number. In rare severe cases, the cylindromas may be the size of fists.

Familial deafness

Familial deafness: Deafness that tends to run in families (familial) and has genetic origins.

Familial dermographism

Familial dermographism: A rare inherited form of hives. Even a single stroke applied with moderate pressure on the skin produces a red welt. The response usually occurs within minutes of the stimulus and may last for a few hours.

Familial dilated cardiomyopathy

Familial dilated cardiomyopathy: A rare inherited heart muscle condition where one or both heart ventricles are dilated or have impaired contractility. The heart becomes unable to pump sufficient blood around the body.

Familial emphysema

Familial emphysema: A rare genetic form of emphysema caused by a deficiency of alpha-1 antitrypsin (AAT) which results in destruction of the elastin component of the lung structure. The disorder tends to run in families (familial).

Familial encephalopathy with neuroserpin inclusion bodies

Encephalopathy, familial, with neuroserpin inclusion bodies: A rare neurodegenerative disorder involving brain disease due to a genetic chemical abnormality which results in the abnormal deposit of neuroserpin inclusion bodies which is harmful to the nerves.

Familial erythrocytosis- 1

Familial erythrocytosis, 1: A rare genetic blood disorder resulting in an increased red blood cell count. The genetic mutation occurs on the erythropoietin gene on chromosome 19p13.3-p13.2.

Familial hyperlipoproteinemia

Familial hyperlipoproteinemia: A group of genetic disorder characterized by abnormal breakdown of lipoproteins which causes abnormal lipoprotein and lipid levels in the blood. There are various types of this condition: hyperlipoproteinemia type I, II, III, IV and V. The type and severity of symptoms vary between types. The disorder tends to run in families (familial).

Familial hyperlipoproteinemia type 3

Hyperlipoproteinemia type 3: A rare genetic disorder characterized by the body's impaired ability to break down certain lipids (triglycerides) which results in their buildup in the blood.