Diseases

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.

Familial hypersecretion of adrenal androgens

Familial hypersecretion of adrenal androgens: A rare familial disorder that occurs in women. The adrenal glands develop abnormally and produce excess androgens which results in hormonal problems.

Familial hypertension

Familial hypertension: An inherited from of high blood pressure that tends to run in families.

Familial Hypoalphalipoproteinemia

Familial HDL deficiency is a condition characterized by low levels of high-density lipoprotein (HDL) in the blood. HDL is a molecule that transports cholesterol and certain fats called phospholipids through the bloodstream from the body's tissues to the liver. Once in the liver, cholesterol and phospholipids are redistributed to other tissues or removed from the body. HDL is often referred to as "good cholesterol" because high levels of this substance reduce the chances of developing heart and blood vessel (cardiovascular) disease. People with familial HDL deficiency may develop cardiovascular disease at a relatively young age, often before age 50.

Severely reduced levels of HDL in the blood is a characteristic feature of a related disorder called Tangier disease. People with Tangier disease have additional signs and symptoms, such as disturbances in nerve function; enlarged, orange-colored tonsils; and clouding of the clear covering of the eye (corneal clouding). However, people with familial HDL deficiency do not have these additional features.

Familial Hypocalciuric Hypercalcemia

The vast majority of FHH is caused by autosomal dominant loss-of-function mutations in the gene CASR, which codes for the calcium-sensing receptor (CASR). CASR is a G-protein coupled membrane receptor expressed in the parathyroid glands and the kidneys, among other tissues.

 

Familial hypopituitarism

Familial hypopituitarism: Impaired pituitary gland hormone-producing activity that tends to run in families. The failure of the pituitary gland in turn affects other hormone-producing glands which rely on the hormones from the pituitary gland for their activity. Symptoms are determined by the degree and type of hormone deficiency involved.

Familial interstitial fibrosis

Familial interstitial fibrosis: A rare familial disorder involving fibrosis and scarring of the lung tissue which causes the lung to become stiff and unable to function normally.

Familial juvenile hyperuricaemic nephropathy

Familial juvenile hyperuricaemic nephropathy (FJHN) is an autosomal dominant renal disease characterised by juvenile onset of hyperuricaemia, gouty arthritis, and progressive renal failure at an early age. 

Familial Lipoprotein Lipase Deficiency

Familial Lipoprotein Lipase Deficiency (LPLD) is a rare inherited condition, in which the normal breakdown of fats in the body is disrupted due to defects in the lipoprotein lipase.

Fats in our diet are broken down in the small intestine into small fatty fragments, such as cholesterol and triglycerides. Within cells lining the intestines, these small fragments are immediately ‘re-assembled’ into particles called ‘chylomicrons’ allowing them to be transported in the bloodstream to other body parts to provide energy, maintain healthy cells, and build hormones. Lipoprotein lipase (LPL) is a key protein (enzyme) that ensures triglycerides are ‘unloaded’ from chylomicrons. Absence of this enzyme leads to increased blood triglyceride and chylomicron levels and, therefore, to most of the signs and symptoms of LPLD.

Alternative names are:

• Familial hyperchylomicronemia

• Familial fat-induced hypertriglyceridemia

• Familial LPL deficiency

• Hyperchylomicronemia, Familial

• Familial Hyperlipoproteinemia Type I

• Lipase D deficiency

• LIPD deficiency

• Lipoprotein Lipase Deficiency, Familial

  

Source: lpldeficiency; Genetics Home Reference

 

Familial Mediterranean fever

Familial Mediterranean fever is an inherited condition characterized by episodes of painful inflammation of the abdominal lining (peritonitis), lining surrounding the lungs (pleurisy), and joints (arthralgia and occasionally arthritis). These episodes are often accompanied by fever and sometimes a characteristic ankle rash. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort. The first episode usually occurs in childhood or the teenage years, but in some cases, the initial attack occurs much later in life. Typically, episodes last 12 to 72 hours and can vary in severity. The length of time between attacks is also variable and can range from days to years. Between attacks, people often do not have any symptoms. Without treatment, FMF can lead to kidney failure due to a buildup of certain protein deposits (amyloidosis) in the body's organs and tissues may occur, especially in the kidneys, which can lead to kidney failure.

Familial Mediterranean fever is an inherited disorder that usually occurs in people of Mediterranean origin — including Sephardic Jews, Arabs, Greeks, Italians, Armenians and Turks. But it may affect any ethnic group.