Categories
Ailmemts & Remedies

Mucopolysaccharide Diseases

Definition:
Mucopolysaccharide diseases (MPS), also known as lysosomal storage diseases, are rare, life-threatening, progressive metabolic conditions each caused by a shortage of a particular enzyme.

The enzyme deficiency that results from mucopolysaccharide diseases means the body can’t break down (metabolise) certain molecules called GAGs (glycosaminoglycans).

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GAGs are structural molecules that are integral to connective tissues such as cartilage. They accumulate in cells within tiny structures called lysosomes. This leads to dysfunction the cells, resulting in dysfunction of tissues and organs.

There are many different types of MPS including: Hurler; Hunter; Sanfillipo; Morquio; Maroteaus-Lamy and Sly.

Seven distinct clinical types and numerous subtypes of the mucopolysaccharidoses have been identified. Although each mucopolysaccharidosis (MPS) differs clinically, most patients generally experience a period of normal development followed by a decline in physical and/or mental function. (Note: MPS-V and MPS-VIII are no longer in use as designations for any disease.)

Symptoms
Patients with MPS appear normal at birth and usually present with developmental delay in the first year of life. The different types have slight variation in symptoms, which include problems with their eyes, skin, heart, bones and mental retardation.

Hurler syndrome (MPS 1) typifies MPS. It is the most severe form, progresses quickly and normally results in death by the age of 10. The clinical features of Hurler syndrome are:

•Coarse faces, large tongues, male-pattern hairiness and corneal clouding
•Airway problems and glue ear
•Skeletal deformities
•Cardiomyopathy (a problem with the heart muscle)
•Large liver and spleen
•Hernias
•Stiff joins
•Hearing loss
•Developmental delay and retardation

Causes:
MPS is an inherited disease. The majority of types are inherited by autosomal recessive transmission. That means that if both of your parents are carriers, you have a one if four chance of having the disease.

Diagnosis:
Diagnosis often can be made through clinical examination and urine tests (excess mucopolysaccharides are excreted in the urine). Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) are also used to provide definitive diagnosis of one of the mucopolysaccharidoses. Prenatal diagnosis using amniocentesis and chorionic villus sampling can verify if a fetus either carries a copy of the defective gene or is affected with the disorder. Genetic counseling can help parents who have a family history of the mucopolysaccharidoses determine if they are carrying the mutated gene that causes the disorders.

Treatment:
Currently there is no cure for these disorders. Medical care is directed at treating systemic conditions and improving the person’s quality of life. Physical therapy and daily exercise may delay joint problems and improve the ability to move.

Changes to the diet will not prevent disease progression, but limiting milk, sugar, and dairy products has helped some individuals experiencing excessive mucus.

Surgery to remove tonsils and adenoids may improve breathing among affected individuals with obstructive airway disorders and sleep apnea. Sleep studies can assess airway status and the possible need for nighttime oxygen. Some patients may require surgical insertion of an endotrachial tube to aid breathing. Surgery can also correct hernias, help drain excessive cerebrospinal fluid from the brain, and free nerves and nerve roots compressed by skeletal and other abnormalities. Corneal transplants may improve vision among patients with significant corneal clouding.

Enzyme replacement therapy (ERT) are currently in use or are being tested. Enzyme replacement therapy has proven useful in reducing non-neurological symptoms and pain. Currently BioMarin Pharmaceutical produces enzyme replacement therapies for MPS type I and VI. In July 2006, the United States Food and Drug Administration approved a synthetic version of I2S produced by Shire Pharmaceuticals Group, called Elaprase, as a treatment for MPS type II (Hunter syndrome).

Bone marrow transplantation (BMT) and umbilical cord blood transplantation (UCBT) have had limited success in treating the mucopolysaccharidoses. Abnormal physical characteristics, except for those affecting the skeleton and eyes, may be improved, but neurologic outcomes have varied. BMT and UCBT are high-risk procedures and are usually performed only after family members receive extensive evaluation and counseling.

Genetics:
It is estimated that 1 in 25,000 babies born in the United States will have some form of the mucopolysaccharidoses. It is an autosomal recessive disorder, meaning that only individuals inheriting the defective gene from both parents are affected. (The exception is MPS II, or Hunter syndrome, in which the mother alone passes along the defective gene to a son.) When both people in a couple have the defective gene, each pregnancy carries with it a one in four chance that the child will be affected. The parents and siblings of an affected child may have no sign of the disorder. Unaffected siblings and select relatives of a child with one of the mucopolysaccharidoses may carry

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://en.wikipedia.org/wiki/Mucopolysaccharidosis

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http://www.bbc.co.uk/health/physical_health/conditions/mucopolysaccharide2.shtml#what_are_mucopolysaccharide_diseases_mps_

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Categories
Ailmemts & Remedies

Amyloidosis

Alternative Names: Amyloid – primary

Definition:
In medicine, amyloidosis refers to a variety of conditions in which amyloid proteins are abnormally deposited in organs and/or tissues. A protein is described as being amyloid if, due to an alteration in its secondary structure, it takes on a particular aggregated insoluble form similar to the beta-pleated sheet.  Symptoms vary widely depending upon the site of amyloid deposition. Amyloidosis may be inherited or acquired.

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The collection of these abnormal proteins interferes with the normal functioning of the organ affected.

Since there are more than 20 different proteins that may form amyloid, there are also many different types of amyloidosis.

Classification of amyloid:
The modern classification of amyloid disease tends to use an abbreviation of the protein that makes the majority of deposits, prefixed with the letter A. For example amyloidosis caused by transthyretin is termed “ATTR.” Deposition patterns vary between patients but are almost always composed of just one amyloidogenic protein. Deposition can be systemic (affecting many different organ systems) or organ-specific. Many amyloidoses are inherited, due to mutations in the precursor protein. Other forms are due to different diseases causing overabundant or abnormal protein production – such as with over production of immunoglobulin light chains in multiple myeloma (termed AL amyloid), or with continuous overproduction of acute phase proteins in chronic inflammation (which can lead to AA amyloid).

Out of the approximately 60 amyloid proteins that have been identified so far,  at least 36 have been associated in some way with a human disease.

Amyloidosis is rare, being diagnosed in between one and five in every 100,000 people every year. It’s more common in older people and is also slightly more common in men than in women.

Causes:
The cause of primary amyloidosis is unknown, but the condition is related to abnormal production of antibodies by a type of immune cell called plasma cells.

The symptoms depend on the organs affected by the deposits. These organs can include the tongue, intestines, skeletal and smooth muscles, nerves, skin, ligaments, heart, liver, spleen, and kidneys.

Primary amyloidosis can result in conditions that include:

•Carpal tunnel syndrome
•Gastrointestinal reflux (GERD)
•Heart muscle damage (cardiomyopathy)
•Kidney failure
•Malabsorption
The deposits build up in the affected organs, causing them to become stiff, which decreases their ability to function.

Risk factors have not been identified. Primary amyloidosis is rare. It is similar to multiple myeloma, and is treated the same way.

Symptoms:

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•Enlarged tongue
•Fatigue
•Irregular heart rhythm
•Numbness of hands and feet
•Shortness of breath
•Skin changes
•Swallowing difficulties
•Swelling in the arms and legs
•Weak hand grip
•Weight loss

Additional symptoms that may be associated with this disease:
•Clay-colored stools
•Decreased urine output
•Diarrhea
•Hoarseness or changing voice
•Joint pain
•Other tongue problems
•Weakness

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Diagnosis:
Exams and Tests
Your doctor may discover that you have an enlarged liver or spleen.

If specific organ damage is suspected, your doctor may order tests to confirm amyloidosis of that organ. For example:

•Abdominal ultrasound may reveal a swollen liver or spleen.
•An abdominal fat pad biopsy, rectal mucosa biopsy, or a bone marrow biopsy can help confirm the diagnosis.
•A heart evaluation, including an ECG,may reveal arrhythmias, abnormal heart sounds, or signs of congestive heart failure. An echocardiogram shows poor motion of the heart wall, due to a stiff heart muscle.
•A carpal tunnel syndrome evaluation may show that hand grips are weak.Nerve conduction velocity shows abnormalities.
•Kidney function tests may show signs of kidney failure or too much protein in the urine ( nephrotic syndrome).
?BUN level is increased.
?Serum creatinine is increased.
?Urinalysis shows protein, casts, or fat bodies.

This disease may also alter the results of the following tests:
•Bence-Jones protein (quantitative)
•Carpal tunnel biopsy
•Gum biopsy
•Immunoelectrophoresis – serum
•Myocardial biopsy
•Nerve biopsy
•Quantitative immunoglobulins
•Tongue biopsy
•Urine protein

Treatment:
It isn’t always easy to treat amyloidosis, and there is no treatment yet that specifically targets the amyloid depositing in the tissues. In cases where it’s secondary to another problem (AA amyloidosis), such as rheumatoid arthritis, treating that original problem may stop the progress of amyloidosis or may even reverse it.

In cases of primary amyloidosis (AL amyloidosis), chemotherapy drugs may be given to suppress production of new amyloid and cause regression of existing amyloid deposits.

In secondary amyloidosis, aggressive treatment of the underlying disease can improve symptoms and/or slow progression of disease. Complications such as heart failure, kidney failure, and other problems can sometimes be treated as necessary.

Occasionally, transplantation of a damaged organ is necessary. However, even after this has been carried out the new organ may become affected by amyloidosis.

Treatment may also be aimed at supporting the function of damaged tissues and treating complications such as heart or kidney failure.

Overall, many types of amyloidosis follow a steadily progressive course and may prove fatal within a year or two.

Prognosis :
The severity of the disease depends upon the organs affected. Heart and kidney involvement may lead to organ failure and death. Systemic involvement is associated with death within 1 to 3 years.

Possible Complications:
•Congestive heart failure
•Death
•Endocrine failure (hormonal disorder)
•Kidney failure
•Respiratory failure

Prevention : There is no known prevention.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/amyloidosis1.shtml
http://www.nlm.nih.gov/medlineplus/ency/article/000533.htm
http://en.wikipedia.org/wiki/Amyloidosis

http://health.allrefer.com/pictures-images/amyloidosis-on-the-face.html

http://health.allrefer.com/health/cardiac-amyloidosis-dilated-cardiomyopathy.html

http://morningreporttgh.blogspot.com/2010/04/amyloidosis.html

http://gsm.utmck.edu/research/HICP/overview.cfm

http://www.pathologyatlas.ro/amyloidosis-kidney-pathology.php

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