Acanthocytosis - digestive disorder

Acanthocytosis is rare disorder in which patient is unable to fully absorb dietary fats. Acanthocytosis is a digestive disorder that is characterized by the absence of very low-density lip proteins and chylomicrons in the plasma. The absence of lipproteins and of chylomicrons interferes with the absorption of fat and leads to excessive fats excretion (steatorrhea). The most frequent and most significant conditions include abetalipoproteinemia and spur cell hemolytic anemia of severe liver disease. It affects boys slightly more than girls.

Symptoms:

The most important symptoms are abnormal red blood cells (acanthocytes), a vision disorder (retinitis pigmentosa), and impaired muscle coordination (ataxia), development delays and digestive problems. Jaundice, bleeding pale,foul smelling and bulky stool, loss of appetite, vomiting, retarded growth, vision problems, abdominal pain, dark urine, cataracts, bulging eyes, decreased night vision, short stature, reduced touch sensation, reduced pain and temperature sensation, enlarged liver and spleen ,mental retardation, cold intolerance etc are other symptoms of acanthocytosis.

Causes:

Altered distribution or proportions of membrane lipids or membrane protein or membrane skeleton abnormalities are causes of acanthocytosis. The imbalance in membrane lipids causes cells to stiffen, wrinkle, pucker,and form spicules .The liver dysfunction can cause altered plasma lipid composition and acanthocytes because of acquired abnormal red cell membrane lipid composition. Changes in the microsomal triglyceride transfer protein (MTP) gene cause a congenital absence of beta-apolipoprotein in the plasma, as well as decreased levels of cholesterol, very–low-density lipoprotein (VLDL), and low-density lipoprotein (LDL).

Treatment:

Treatment includes high doses of fat-soluble vitamins, such as Vitamin A, D, E and K is necessary in large doses. Iron and foliate supplements are needed. Occupational and Physical therapy is recommended to treat progressive neurological disease. Treatment for liver disease is important, it includes careful fluid management, correction of metabolic disturbances, treatment of hypoglycemia, and careful nutritional management. Bleeding may require surgery. Hormone replacement is needed for endocrine disorders; lipid-lowering agents have been tried for hemolytic anemias of severe liver disease. Drugs prescribed by doctors are: Vitamin A (Aquasol A, Palmitate-A 5000) Vitamin E (Nutr-E-Sol), Folic acid, Polysaccharide-iron complex (Niferex, Nu-Iron)

Prevention:

Maintain healthy weight and normal cholesterol and blood sugar levels. Avoid excess alcohol and other substances that could be harmful to your liver, can help to reduce liver disease.

Alternative medicine:

Herbs and nutritional supplements help to improve liver health. This may include milk thistle, alpha-lipoic acid, vitamin E, N-acetyl and omega-3 fatty acids, vitamin A, iron, valerian and comfrey. Consult the doctor before taking any vitamin and dietary supplement.

Links:

http://www.wrongdiagnosis.com

http://www.webmd.com/

http://organizedwisdom.com/

www.emedicine.com

http://organizedwisdom.com/

Acanthocheilonemiasis - rare parasitical disease

Acanthocheilonemiasis is a rare parasitical disease found in tropical areas mostly in Africa. This disease is usually transmitted through the bites of small flies.

Symptoms:

The most important symptoms are headache, red itchy skin (pruritis), abdominal and chest pain, muscular pain (myalgia), localized swelling (edema), liver and spleen may be enlarged (hepatosplenomegaly), abnormally elevated levels of specialized white blood cells (eosinophilia)

Causes:

The only cause of Acanthocheilonemiasis is the bites of small flies seen in African areas. The disease is transmitted through the bites of small flies.

Treatment:

Treatment is made only for the symptoms. Pain medication is important to reduce headache and muscle pain. Control the white blood cells in the body is also important. Blood transformation is necessary to balance white blood cells in the body. Nutritional food will help to improve health condition. Bed rest along with plenty of fluids is important to control and avoid body pain.

Prevention:

Avoid the bite of the flies is the only preventive method. Destroying the flies through cleaning the living place and environment and using preventive step to avoid the flies.

Alternative Therapy:

Herbs and nutritional supplements help to improve liver health. Oil massage is needed to muscle pain. Blood transformation is important for controlling the level of white blood cells.


Links:

http://www.rarediseases.org/

http://arthritis-symptom.com/

http://www.bchealthguide.org/

http://en.wikipedia.org/

http://www.wrongdiagnosis.com/

Ablepharon macrostomia syndrome - rare genetic disorder characterized by physical abnormalities

Ablepharon macrostomia syndrome is an uncommon inherited hereditary disorder characterized by various physical problems affecting the head and facial area, skin, the fingers, and the genitals and features with delayed language development. Hearing loss, poor hair growth, and growth retardation are also chronic problems.

Causes:

Ablepharon Macrostomia Syndrome, is an extremely rare genetic disorder characterized by physical abnormalities.The cause of this disease is unknown. It is a hereditary disease. It can be inherited as an autosomal trait of the recessive gene. Abnormalities of the eyes may occur due to, or in association with, ablepharon or microblepharon.

Symptoms:

It is characterized by physical abnormalities that affect the face, rind, fingers, and the genitals. Ablepharon macrostomia syndrome affected people may include absent or abnormally small nipples and abnormal abdominal wall, abnormal genitalia, wide mouth, small nostrils, small penis. Other symptoms are slow growth and in some cases, mental retardation, thin hair or poor hair growth, hearing loss, dry and wrinkled skin with excess (redundant) folds, webbed fingers, delays in language development, absence and underdevelopment of the eyelids and absence of eyelashes and eyebrows, small ears, large mouth etc.

Treatment:

There is no single course of medical treatment for Ablepharon macrostomia syndrome. Surgery is the most important treatment. It can correct crossed eyes, and other deformities. Nutritional food will help to improve health condition. Physical, occupational and speech therapy can improve their physical and mental health and also help to control of speaking and eating abilities. Frequent lubrication with eye drops is sufficient to combat dry eye resulting from impaired blinking. Plastic surgery may permit reconstruction of the eyelids, external ears and mouth and zygomatic arches may be remodelled by implantation of subcutaneous prostheses. Chin and breast hypoplasia can also be treated by plastic surgery.

Prevention:

Genetic counseling is the only preventive method for Ablepharon macrostomia syndrome.

Alternative therapy:

Nutritional and dietary food including vitamins will help to reduce complications and to improve health.

Links:

http://www.articlesnatch.com/

http://www.cigna.com/

http://www.uberarticles.com/

http://www.amazines.com

http://www.articlealley.com/

http://www.ailments.com/

http://www.orpha.net/

http://www.springerlink.com/

http://organizedwisdom.com/

Abetalipoproteinemia - an extremely rare inherited disorder

Abetalipoproteinemia (ABL) is an extremely rare inherited disorder, caused by mutations of the microsomal triglyceride-transfer protein gene. It is also known as Bassen-Kornzweig, Acanthocytosis, Apolipoprotein B deficiency. It affects the absorption of dietary fats, cholesterol, and certain vitamins. Abetalipoproteinemia patients are not able to make certain lipoproteins, which are molecules that consist of proteins combined with cholesterol and particular fats called triglycerides.

Symptoms:

Anemia,stomach problems, sensory disturbances-Hypesthesia, walking trouble (ataxia),movement problems-shaking(Chorea),trouble reaching for things(dysmetria), talking trouble(dysarthria), Muscle problems, blood problems- such as anemia, clotting blood, abnormal red blood cells(acanthocytosis), eye problems-cataracts, ophthalmoplegia, poor eyesight, night blindness.

Causes:

It is an inherited disease and is caused by a defect in the microsomal triglyceride transfer protein gene (MTTP) this gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lip proteins. Lack of fats and vitamin in body resulted Abetalipoproteinemia. The deficiencies of iron and folic acid resulted severe anemia,which is the most important symptom of Abetalipoproteinemia. Boys are affected more than girls..

Treatment:

A special diet developed for people with abetalipoproteinemia,. Avoiding eating certain type of fats, include nutritional food having vitamins such as Vitamin, E and K. Vitamin E helps the body restore and produce lipproteins, and also helps keep skin and eyes healthy. Persons with this syndrome should not eat long-chain triglycerides-type of fats. And limit fat intake to 5-20 grams per day. The diet should contain not more than 5 daily ounces of lean meat, fish, or poultry. Use skim milk. Large doses of vitamin supplements containing the fat-soluble vitamins-such as vitamin A, vitamin D, vitamin E and vitamin K are given. Linoleic acid supplements are also recommended. Dyspraxia and muscle weakness is usually treated with psysiotherapy, or occupational therapy.

Prevention:

High doses of fat-soluble vitamins resulted slow progression of some problems such as degeneration of the retina and decreased vision. Absorb dietary fat and vitamin E.

Alternative Therapy:

Orthomolecular medicine is a form of alternative therapy to treat Abetalipoproteinemia. Providing nutrients and vitamins, especially vitamin E. avoid refined foods, sugar and transfats and provide foods having vitamin E, such as vegetable oils, nuts and green leafy vegetables are the main source of vitamin E. A physician to treat this disorder may prescribe the Abetalipoproteinemia person special vitamin E supplements.

Sources :


http://en.wikipedia.org/

http://alternative-medicine-mes.blogspot.com/

http://rarediseases.about.com

http://www.umm.edu/

http://ghr.nlm.nih.gov/

http://www.nlm.nih.gov/

http://apanemia.com/

Acanthosis Nigricans disorder



Acanthosis nigricans is a disorder that may begin at any age. Acanthosis nigricans is most often associated with obesity or polycystic overian disease in women and it is a condition characterized by abnormal thickening and darkening of the skin, especially in body creases, on the neck, under the arms or in the groin and under the breasts. Acanthosis nigricans can occasionally be found in people who have more serious underlying health problems or who taking certain medications. In some cases it is genetically inherited and it is most common among people of African descent.

Symtoms:

Important symptoms are excessive urination (polyuria) and increased thirst (polydipsia). Causes:

The most important cause of acanthosis nigricans is hyperinsulinemia, a consequence of insulin resistance that occurs associated with obesity. People with lymphoma or cancers of the gastrointestinal or genitourinary tracts can also develop severe cases of acanthosis nigricans. Another causes are: addison disease,a condition caused by a deficiency of hormones from the adrenal gland ,disorders of the pituitary gland within the brain,growth hormone therapy,hypothyroidism,oral contraceptives,some cholestrol medications,including nicotinic acid etc. Acanthosis nigricans most likely is caused by factors that stimulate epidermal keratinocyte and dermal fibroblast proliferation. Treatment:

The goal of therapy is to correct the underlying disease process. Treatment for skin is important. Correction of hyperinsulinemia often reduces the burden of hyperkeratotic lesions. Topical medications have been effective in some cases include keratolytics. Cyproheptadine has been used in cases of malignant acanthosis nigricans, because it may inhibit the release of tumor products. Dermabrasion and long-pulsed alexandrite laser therapy may also be used to reduce the bulk of the lesion. Oral agents that have shown some benefit include etretinate, isotretinoin, meformine and dietary fish oils. The most effective treatment is weight loss and exercise to correct the underlying endocrinologic abnormality. Acanthosis nigricans caused by medicine may go away once the medication is stopped.

Prevention:

Weight management and diet control is help to control blood glucose levels and also help to prevent acanthosis nigricans. Sometimes certain medicines caused acanthosis nigricans.stop or avoid the medince is most important prevention.

Alternative therapy:

Pharmacotherapy is to improve cosmetic appearance. Diet control and nutritious food are needed. Exercise is important and it also helps to improve insulin resistance. Other treatments to improve skin appearance, including Retin-A, urea, alpha hydroxy acids, and salicylic acid prescriptions, may be helpful in some people. Dermabrasion or laser therapy may help to reduce the bulky portion of the affected skin. Eating too much of the wrong foods, especially starches and sugars, can cause insulin resistance. Reducing the circulating insulin by dieting or medication can lead to improvement of the skin problem.

Links:

http://www.aocd.org/

http://en.wikipedia.org/

http://www.visualdxhealth.com/

http://www.nlm.nih.gov/

http://www.mayoclinic.com/health/

http://dermatology.cdlib.org/

http://my.clevelandclinic.org

http://www.rarediseases.org/ treatment.

Aase syndrome - Symptoms, Causes & Prevension

Introduction:

Aase syndrome or Aase-smith syndrome is a rare genetic disorder. Anemia and bone deformities are the important characteristics of this syndrome. Aase syndrome patients have one or more physical disabilities such as slow growth in childhood, but mental retardation and other neurological problems are not related with it. It is also known as congenital anemia-Triphalangeal thumb syndrome.


Symptoms:

Anemia, slow growth, presence of three bones within the thumbs, pale skin, narrow shoulders, deformed ears, reduction of red cells in blood etc. are important symptoms of Aase syndrome.


Causes:

Cause of Aase syndrome is unknown. It is not a fully inherited diseas, in some cases have been shown to be inherited. The most important feature of this syndrome is Anemia. Anemia caused by underdevelopment of the bone marrow, which is where blood cells are formed.


Treatment:

Frequently apply pure blood, Hematopoiec stem cell transplantation (transplantation of blood stem cells derived from the bone marrow or blood. Prednisone (Prednisone is in a class of drugs called steroids) is also used to treat anemia related with Aase syndrome. But prednisone should only be used after finding the benefits and risks with a doctor who has experienced in treating anemic patients.


Prevention:


There is no way to prevent genetic diseases. Identify diseases and treatment of infections in childhood, limit low white blood cell counts. Self care steps during pregnancy start by collecting relevant information before you become pregnant. Take vitamins in advance, don’t drink alcohol, cut the caffeine, avoid too much noise etc. will help to prevent Aase syndrome.


Alternative therapy:

A bone marrow transplant may be necessary if other treatment fails. A bone Marrow transplant is a procedure that transplants healthy bone marrow into a patient whose bone marrow is not working properly.


Links:

http://children.webmd.com/

http://en.wikipedia.org/

http://www.rarediseases.org/

http://www.enotes.com/

http://www.drugs.com

http://www.peacehealth.org/

Know more about Aarskog syndrome

Introduction:

Aarskog syndrome is an inherited disease. It is a rare genetic disorder. It is also known as Aarskog-scott syndrome, Faciodigitogenetal syndrome,Shawl scrotum syndrome and faciogenital dysplasia. It affects a person’s height, muscles, skeleton, genitrials and facial appearance. The most important characteristics of this disease are short stature, facial abnormalities, and hand and foot abnormalities. Usually male children are affected by this disease; females may have mild manifestations of the syndrome.


Symptoms:

The most important symptoms are slow maturation from 3 years onwards, delayed teeth and dental abnormalities, changes in face, round face top with broad forehead, growth of hair into the middle of the forehead, small slightly folded ears, broad hands with short fingers, short toes and the foot is often bent inward at its middle portion, small nose, short neck, enlarged cornea, increased space between eyes, wide mouth and small chin, mild mental retardation. All the joints may be usually loose.


Causes:

The cause of this Syndrome is genetic irregularities and disorders. This syndrome is mainly affects male. Aarsok syndrome is caused by changes in gene called ”Faciogenital dysplasia”. It is caused by abnormalities in a gene called FGDY1 found on the X chromosome. Which is transferred from mothers to male children.


Treatment:

There is no permanent cure for Aarskog Syndrome. Surgery and Physiotherapic treatment is available for this disease. Orthodontic treatment (Moving the teeth) is another treatment for Aarskog syndrome. This may help to cure certain facial and dental abnormalities. Another treatment is supportive treatment; this includes educational assistance for mentally disabled patients and also counseling for their parents.


Prevention:

Prenatal testing is the most important preventive method. If a person have Aarskog syndrome or have a family history of disorder, must consult a genetic counselor when decided to have children.


Alternative Therapy:

Growth –promoting therapy, using growth hormone is alternative therapy for Aarskog syndrome. Estrogen replacement therapy is another method. It seems to be essential to start estrogen at a safe bone age (above 13 years) in very low doses.


Links:

http://www.nlm.nih.gov/

http://health.allrefer.com/

http://www.whonamedit.com/

http://www.drugs.com/

http://children.webmd.com/

http://www.med.nyu.edu/

http://www.articlesbase.com/

http://www.umm.edu/ency/article

http://content.karger.com/

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