Diseases

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.

Familial Melanoma

FAMMM syndrome. An inherited condition marked by the following: (1) one or more first- or second-degree relatives (parent, sibling, child, grandparent, grandchild, aunt, or uncle) with malignant melanoma; (2) many moles, some of which are atypical (asymmetrical, raised, and/or different shades of tan, brown, black, or red) and often of different sizes; and (3) moles that have specific features when examined under a microscope. FAMMM syndrome increases the risk of melanoma and may increase the risk of pancreatic cancer .

Familial multiple trichodiscomas

Familial multiple trichodiscomas: A familial condition involving the development of multiple benign tumors in the hair discs. Dome-shaped, skin-colored papules form on various parts of the body including the head, neck, chest, arms and back.

Familial myelofibrosis

Familial myelofibrosis: A rare condition where progressive scarring or fibrosis of the bone marrow impairs it's ability to make blood cells causing symptoms such as anemia and liver and spleen enlargement.

Familial nasal acilia

Familial nasal acilia: A rare birth defect where the cilia (hairs) in the nose are absent which leads to a build up of mucus and debris inside the nose. This accumulation of waste provides an ideal environment for bacterial infections.

Familial neurocardiogenic syncope

Syncope, familial neurocardiogenic: A familial condition where a person suffers an increased tendency to faint due to a sudden drop in blood pressure .

Familial non-immune hyperthyroidism

Hyperthyroidism is a condition in which overactivity of the thyroid gland causes too much thyroid hormone to build up in the bloodstream. As a result, processes in the body speed up. Left untreated, hyperthyroidism can have serious health consequences. The thyroid gland sits just below the Adam's apple in the neck. It secretes hormones that regulate a person's metabolism, the physical and chemical processes necessary for the maintenance of life. Thyroid hormones help to: * Control the rate at which the body uses fats and carbohydrates * Maintain body temperature * Influence heart rate * Regulate the amount of calcium in the blood A complex chain leads to hormone production in the thyroid. The hypothalamus in the brain signals the pituitary gland to make and release thyroid-stimulating hormone (TSH). TSH causes the release of the major thyroid hormones, thyroxine (T4) and triiodothyronine (T3). Disorders that affect the thyroid have a crucial effect on the proper release of these hormones, which may alter a person's metabolism and potentially lead to significant health problems. Hyperthyroidism occurs when a person’s thyroid produces too much thyroxine. This leads to a speeding up of metabolism that can result in many different symptoms, including enlargement of the gland (goiter) and sudden unexplained weight loss. In addition, some cases of hyperthyroidism cause the eyes to bulge beyond their normal socket. Tissues and muscles behind the eyes swell, a condition known as Graves' ophthalmopathy. Hyperthyroidism also can affect the skin, particularly on the shins and feet. Redness and swelling are the most common symptoms associated with the skin. Several complications are associated with hyperthyroidism. Some patients may develop heart problems such as rapid heart rate, atrial fibrillation (heart rhythm disorder) and heart failure (inability of the heart to circulate enough blood to meet the body's needs). Hyperthyroidism also can lead to brittle bones (osteoporosis) and fractures, as excessive levels of thyroid hormone can prevent the body from incorporating calcium into the bones. According to recent research, thyroid disease may raise the risk of glaucoma, a leading cause of blindness. Finally, people with hyperthyroidism are at increased risk for thyrotoxic crisis. This is also known as thyroid crisis or thyroid storm. When this occurs, patients may experience a sudden intensification of their symptoms, including fever, rapid pulse and delirium.

Familial opposable triphalangeal thumbs duplication

Familial opposable triphalangeal thumbs duplication: A rare birth malformation where the thumb has three bones instead of the normal two which gives it a fingerlike appearance. An extra toe is also present.

Familial periodic paralysis

Familial periodic paralysis: A familial condition involving recurring episodes of muscle weakness or paralysis. The episode may last for hours or days.

Familial polyposis

A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. The lifetime risk of colorectal cancer in these patients reaches 100 percent by age 60.

Familial porencephaly

Familial porencephaly: A very rare developmental abnormality that tends to run in families and is characterized by a localized accumulation of cerebrospinal fluid in the brain. The severity of symptoms is determined by the size and location of the brain abnormality.

Familial streblodactyly

Familial streblodactyly: A familial anomaly where the fingers are permanently twisted and crooked.

Familial symmetric lipomatosis

Familial symmetric lipomatosis (medical condition): A rare disorder involving defective fat metabolism which leads to a buildup of fat deposits in neck and shoulder area. Mainly occurs in male alcoholics.

Familial Treacher Collins syndrome

Treacher Collins syndrome is a rare birth defect that often causes deformities in the size and shape of various facial features. Affected areas of the face include the ears, eyelids, cheekbones, and the upper and lower jaws. Treacher Collins syndrome is also known as Franceschetti-Zwalen-Klein syndrome or mandibulofacial dysostosis. The condition occurs in one in every 50,000 live births, according to the National Institutes of Health. An English physician named Edward Treacher Collins was the first to describe this syndrome in 1900. Children who are affected may experience a range of symptoms from mild to severe. In some cases, symptoms are so mild that they can only be detected by an expert. However, in other cases the physical signs of Treacher Collins syndrome can be very obvious. Symptoms may include underdeveloped cheekbones and jawbones, deformity of the roof of the mouth (cleft palate), eyelid problems and ear deformities. Because deformities of the outer and middle ear are common, hearing loss often accompanies the syndrome. While children with Treacher Collins syndrome often have marked physical deformities, their mental capabilities are usually unimpaired. In the past, it was thought that Treacher Collins syndrome created mental impairment in a large number of children. Today, experts realize that hearing loss can cause the learning disorders or speech impairments that can accompany Treacher Collins syndrome.

Familial veinous malformations

Familial venous malformations: A rare condition where localized areas of blood vessels undergo changes and may result in bleeding. Severity of the condition depends on the location of these lesions. Lesions can occur in internal organs where bleeding can result in death. Lesions can also occur on the skin, inside the mouth and even on the genitals.

Familial Visceral Amyloidosis

A rare genetic disorder involving widespread amyloidosis (abnormal buildup of amyloid protein in tissues) which tends the affect the kidneys severely. It is associated with fibrinogen alpha chain, apolipoprotein A1, and lysozyme. It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950.

Familial visceral myopathy

Familial visceral myopathy: A rare condition where the duodenum is dilated and the muscles don't function normally which affects the movement of digestive waste material through the intestines. The symptoms of the condition are similar to that caused by an intestinal obstruction.

Familial Wilms tumor 2

Familial Wilms tumor 2: A familial form malignant kidney tumor that occurs in children. Type 2 differs from other forms of Wilms tumor by the origin of the genetic defect (chromosome 19q13.4).

Fanconi Anemia

Fanconi anemia (Fanconi anaemia, FA) is a very rare genetic disease with an incidence estimated at 1 per 130,000 births (or around 31 per year in the USA), with a slightly higher frequency in Ashkenazi Jews in Israel and Afrikaners in South Africa.

FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair. As a result, the majority of FA patients develop cancer, most often acute myelogenous leukemia, and 90% develop bone marrow failure (the inability to produce blood cells) by age 40. About 60–75% of FA patients have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% of FA patients have some form of endocrine problem, with varying degrees of severity. Median age of death was 30 years in 2000.

Treatment with androgens and hematopoietic (blood cell) growth factors can help bone marrow failure temporarily, but the long-term treatment is bone marrow transplant if a donor is available.

Because of the genetic defect in DNA repair, cells from people with FA are sensitive to drugs that treat cancer by DNA crosslinking, such as mitomycin C.

The disease is named after the Swiss pediatrician who originally described this disorder, Guido Fanconi. It should not be confused with Fanconi syndrome, a kidney disorder also named after Fanconi.

Fanconi Bickel syndrome

Fanconi-Bickel syndrome (FBS) is a rare inherited disorder of carbohydrate metabolism caused by mutations in the gene known as GLUT2. Description Also known as glycogen storage disease type XI, the disease was first described by scientists G. Fanconi and Horst Bickel in 1949. Since then, only a few dozen cases of FBS have been studied, most in the United States, Europe, and Japan. Onset of FBS is within the first year of life, with the overt symptom being a failure to thrive. At age two, an enlarged liver and kidneys are present and the child has rickets. The incidence of FBS has not been determined but it is believed to occur in less than one in one million births. Genetic profile FBS is believed to be an autosomal recessive disorder. This means that an individual with FBS would have to inherit an abnormal copy of the gene from both parents in order to show symptoms of FBS. People with only one abnormal gene are carriers and do not have the disorder. When both parents have the abnormal gene, there is a 25% chance with each birth that their child will inherit both abnormal genes and have the disease. There is a 50% chance each birth that the child will inherit one abnormal gene and become a carrier of the disorder but not have the disease itself. There is a 25% chance each child will inherit neither abnormal gene and not have the disease nor be a carrier. The specific genetic defect of FBS has not been identified. Demographics Since there is so little research on Fanconi-Bickel syndrome, no clear pattern of demographics has been established. However, the disorder is known to affect both males and females. One common thread in some of the cases that have been studied has been consanguinity, meaning that FBS is found in the children of two persons of the same blood relation. In several of these cases the consanguinity is between two first cousins.

Fanconi ichthyosis dysmorphism

Fanconi-ichthyosis-dysmorphism: A very rare syndrome characterized by scaly skin (ichthyosis), anemia, muscle anomalies and various other abnormalities. All six reported cases died within 6 months.

Fanconi like syndrome

Fanconi like syndrome: A rare condition characterized by a poor immune system, skin tumors and a reduced number of all type of blood cells.

Fanconi renotubular syndrome

Fanconi renotubular syndrome: A condition where the kidneys are unable to reabsorb glucose and amino acids and hence they are excreted in the urine. The condition may be inherited or occur as a result of heavy metal toxicity, malignancy and myeloma.

Fara Chlupackova syndrome

Fara-Chlupackova syndrome: A rare syndrome characterized mainly by ear, face and neck abnormalities.

Farber’s disease

Farber's disease is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). In affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. The deficiency of an enzyme is called ceramidase resulting in the harmful accumulation of certain chemicals in the body which causes damage and inflammation.

Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. Affected individuals may also have difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay.

Researchers have described seven types of Farber lipogranulomatosis based on their characteristic features:

Type 1 is the most common, or classical, form of this condition and is associated with the classic signs of voice, skin, and joint problems that begin a few months after birth. Developmental delay and lung disease also commonly occur. Infants born with type 1 Farber lipogranulomatosis usually survive only into early childhood.

Types 2 and 3 generally have less severe signs and symptoms than the other types. Affected individuals have the three classic signs and usually do not have developmental delay. Children with these types of Farber lipogranulomatosis typically live into mid- to late childhood.

Types 4 and 5 are associated with severe neurological problems. Type 4 usually causes life-threatening health problems beginning in infancy due to massive lipid deposits in the liver, spleen, lungs, and immune system tissues. Children with this type typically do not survive past their first year of life. Type 5 is characterized by progressive decline in brain and spinal cord (central nervous system) function, which causes paralysis of the arms and legs (quadriplegia), seizures, loss of speech, involuntary muscle jerks (myoclonus), and developmental delay. Children with type 5 Farber lipogranulomatosis survive into early childhood.

Types 6 and 7 are very rare, and affected individuals have other associated disorders in addition to Farber lipogranulomatosis.

Farmer’s lung

Alternative Names: Extrinsic allergic alveolitis; Farmer's lung; Mushroom picker's disease; Humidifier or air-conditioner lung; Bird breeder's lung Hypersensitivity pneumonitis is inflammation of the lungs due to breathing in a foreign substance, usually certain types of dust, fungus, or molds.