CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0345/03453.txt

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$Unique_ID{BRK03453}
$Pretitle{}
$Title{Amyloidosis}
$Subject{Amyloidosis Primary Amyloidosis also known as Idiopathic Amyloidosis
and Primary Nonhereditary Amyloidosis Cardiopathic Amyloidosis also known as
Pericollagen Amyloidosis Hereditary Nephropathic Amyloidosis also known as
Neuropathic Amyloidosis and Portuguese Type Amyloidosis Amyloidosis of
Familial Mediterranean Fever Macular Amyloidosis also known as Primary
Cutaneous Amyloidosis and Lichen Amyloidosis Secondary Generalized Amyloidosis
also known as Abercrombie Syndrome and Waxy Disease Amyloidosis with Multiple
Myeloma also known as Paramyeloidosis and Atypical Amyloidosis Systemic
Amyloidosis Secondary Amyloidosis Hereditary Amyloidosis Transthyretin
Methionine-30 also known as Amyloidosis Type I Indiana Type also known as
Amyloidosis Type II Danish Cardiac Type also known as Amyloidosis, Type III
Iowa Type also known as Amyloidosis Type IV Finnish Type also known as
Amyloidosis Type V Icelandic Type also known as Amyloidosis Type VI Ohio Type
also known as Amyloidosis Type VII Familial Visceral also known as Amyloidosis
Type VIII Familial Lichen also known as Amyloidosis Type IX Appalachian Type
also known as Analine 60 Amyloidosis Ashkenazi Type also known as Isoleucine
33 Amyloidosis Corneal also known as Amyloid Corneal Dystrophy Familial
Cutaneous Hemodialysis-Related also known as A Beta-2-Microglobulin and
Amyloid Arthropathy of chronic Hemodialysis Amyloidosis, Illinois Type also
known as Amyloidosis, Prealbumin Tyr-77}
$Volume{}
$Log{}

Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992
National Organization for Rare Disorders, Inc.

22:
Amyloidosis

** IMPORTANT **
It is possible that the main title of the article (Amyloidosis) is not
the name you expected.  Please check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.

Synonyms

Primary Amyloidosis also known as Idiopathic Amyloidosis and Primary
Nonhereditary Amyloidosis

Cardiopathic Amyloidosis also known as Pericollagen Amyloidosis

Hereditary Nephropathic Amyloidosis also known as Neuropathic Amyloidosis
and Portuguese Type Amyloidosis

Amyloidosis of Familial Mediterranean Fever

Macular Amyloidosis also known as Primary Cutaneous Amyloidosis and
Lichen Amyloidosis

Secondary Generalized Amyloidosis also known as Abercrombie Syndrome and
Waxy Disease

Amyloidosis with Multiple Myeloma also known as Paramyeloidosis and
Atypical Amyloidosis

DISORDER SUBDIVISIONS:

     Systemic Amyloidosis
     Secondary Amyloidosis
     Hereditary Amyloidosis

OTHER RECOGNIZED FORMS OF AMYLOIDOSIS INCLUDE:

Amyloidosis, Transthyretin Methionine-30 also known as Amyloidosis Type I

Amyloidosis, Indiana Type also known as Amyloidosis Type II

Amyloidosis, Danish Cardiac Type also known as Amyloidosis, Type III

Amyloidosis, Iowa Type also known as Amyloidosis Type IV

Amyloidosis, Finnish Type also known as Amyloidosis Type V

Amyloidosis, Icelandic Type also known as Amyloidosis Type VI

Amyloidosis, Ohio Type also known as Amyloidosis Type VII

Amyloidosis, Familial Visceral also known as Amyloidosis Type VIII

Amyloidosis, Familial Lichen also known as Amyloidosis Type IX

Amyloidosis, Appalachian Type also known as Analine 60 Amyloidosis

Amyloidosis, Ashkenazi Type also known as Isoleucine 33 Amyloidosis

Amyloidosis, Corneal also known as Amyloid Corneal Dystrophy

Amyloidosis, Familial Cutaneous

Amyloidosis, Hemodialysis-Related also known as A Beta-2-Microglobulin
and Amyloid Arthropathy of chronic Hemodialysis

Amyloidosis, Illinois Type also known as Amyloidosis, Prealbumin Tyr-77

General Discussion

** REMINDER **
The Information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Amyloidosis is the term applied to a group of metabolic disorders in
which amyloid (a fibrous protein) accumulates in tissues of the body.  The
excessive accumulation of amyloid causes the affected organ to malfunction.
The accumulation may be localized, general, or systemic.  There are various
systems used to classify the different forms of the disorder.  The most
widely used classification system is based on the chemical properties of the
fiberlike structures within amyloid (fibrils).

The most common form of Amyloidosis is AL or light-chain-related (Primary
Amyloidosis).  This form of the disease may occur independently of other
disease, or in the presence of multiple tumors arising from the bone marrow
(myeloma).  This form of the disorder generally effects the tongue, thyroid
gland, intestinal tract, liver and spleen.  Cardiac involvement may result in
congestive heart failure.

AA Amyloidosis, or Secondary Amyloidosis, is most often discovered during
the course of a chronic inflammatory disease, such as rheumatoid arthritis,
chronic infections or familial Mediterranean fever.  AA Amyloidosis commonly
impairs the proper functioning of the kidneys, liver and spleen.  The adrenal
glands, lymph nodes, and vascular system may be effected as well.  The skin
inflammation that occurs with recurrent injections that are given to treat
some inflammatory diseases seems to induce AA Amyloidosis.  Malfunctioning of
the kidneys, as in nephrotic syndrome and kidney (renal) failure, causes the
most fatalities in AA Amyloidosis.  This type of Amyloidosis is reported in
approximately 1 percent of cases of chronic inflammatory diseases in the
United States.

Amyloidosis of Aging commonly affects the heart.  Sometimes this form of
Amyloidosis also affects the pancreas and brain.

Hemodialysis-Associated Amyloidosis is seen in patients who have
experienced long-term hemodialysis (a procedure in which impurities or wastes
are removed from the blood due to the malfunctioning of the kidneys).

Familial Amyloidosis is found in a series of genetically transmitted
diseases that typically affect the kidney, heart, skin and other areas of the
body.

Symptoms

The symptoms of Amyloidosis are nonspecific.  Generally, involved organs
become rubbery and firm, and have a waxy appearance.  Often they become
enlarged.  Biopsy is necessary for a firm diagnosis of Amyloidosis.

The nephrotic (kidney) syndrome associated with Amyloidosis is usually
accompanied by increased levels of protein in the urine (proteinuria), which
worsens as the disease progresses and may finally result in kidney failure.
The kidneys become small, pale and hard.  Renal tubular defects, renal vein
blood clots (thrombosis) and high blood pressure (hypertension) may also be
present.  Amyloid may accumulate in other parts of the urogenital system,
such as the bladder or urinary tubes (ureter).

Amyloidosis may affect the liver and the spleen.  An enlarged liver
(hepatomegaly) and an enlarged spleen (splenomegaly) are the most notable
signs.  Elevated liver enzymes (alkaline phosphatase) and other liver
function abnormalities may be detected early.  Generally the function of the
liver is not significantly affected until late in the course of the disease.
The occurrence of Amyloidosis in the spleen increases the risk of traumatic
rupture of that organ.

Amyloidosis frequently involves the heart.  Common symptoms of heart
involvement include:  an enlarged heart (cardiomegaly); an irregular heartbeat
(arrhythmias); heart murmurs; and abnormalities of the heart seen on
electrocardiograms.  Congestive heart failure is the most common cardiac
complication of Amyloidosis.  Nodular deposits of amyloid may be present on
the membranous sac that surrounds the heart (pericardium) and on the lining
of the heart chambers (endocardial).  There may also be amyloid deposits on
the heart valves.

Amyloidosis may also affect the gastrointestinal (digestive) system.
Symptoms may be similar to those of gastric cancer and frequently develop in
association with chronic diseases such as tuberculosis and granulomatous
ileitis (obstruction and immobility of the intestines).  Amyloid accumulation
in the gastrointestinal tract may cause a lack of movement (motility) in the
esophagus and the small and large intestines.  Malabsorption, ulceration,
bleeding, weak gastric activity, pseudo-obstruction of the gastrointestinal
tract, protein loss, and diarrhea may also occur.  Infiltration by amyloids
may also cause enlargement of the tongue (macroglossia).

The skin is involved in at least half of Primary and Secondary
Amyloidosis cases, and in all cases of Amyloid Neuropathy.  The lesions may
be visible or may be so small that they may be seen only with a microscope.
Waxy-looking papulars may appear on the face and the neck.  They may also
occur under the arms (axillary region), near the anus and the groin.  Other
areas that may be affected are the mucous areas such as the ear canal or
tongue.  Areas of swelling, hemorrhages under the skin (purpura), hair loss
(alopecia), inflammation of the tongue (glossitis) and a dry mouth
(xerostomia) may also be present.

Neurological symptoms often appear in Hereditary Amyloidosis, and
Amyloidoses associated with multiple myeloma.  These symptoms may include:
inflammation and degeneration of motor and sensory nerves outside those of
the brain and spinal cord (peripheral neuropathy); a decrease in the amount
of sweat production (hypohidrosis); a sudden drop in blood pressure when the
patient stands up (postural hypotension); the pupils of the eyes do not
constrict properly in response to light (Adie's Syndrome, tonic pupil); a
hoarse voice; sphincter dysfunction; and an increase in the concentration of
protein in the cerebrospinal fluid that surrounds the brain and spinal cord.

Problems with the respiratory system that are associated with Amyloidosis
often parallel cardiac symptoms.  Air passages and ducts may be obstructed by
accumulations of amyloid in the nasal sinuses, voice box (larynx) and throat
(trachea).

Joint abnormalities (arthropathy) are common in Amyloidosis due to the
accumulation of amyloid.  This occurs in 6 to 15 percent of multiple myeloma
cases and may involve articular cartilage or the synovial membrane and fluid.
Symptoms are similar to those of Rheumatoid Arthritis.  Amyloid deposits in
muscle tissue may cause muscle weakness and muscle changes (pseudomyopathy).
Symptoms of Amyloidosis may also occur in the blood system.  These may
include a deficiency of clotting protein (fibrinogenopenia), increased
decomposition of fibrin that is responsible for the removal of small clots
(fibrinolysis) and a deficiency of certain clotting factors.

Causes

Little is known about the cause of Amyloidosis, although it appears that the
various forms of Amyloidosis result from different causes.  In Secondary
Amyloidosis symptoms may develop due to excessive antigenic stimuli
(substances that induce an immune response) that accompany chronic
inflammatory or infectious diseases.

Hereditary Amyloidosis is thought to be inherited as an autosomal
dominant trait, unless associated with familial Mediterranean fever, which
seems to be an autosomal recessive trait.

Human traits, including the classic genetic diseases, are the product of
the interaction of two genes, one received from the father and one from the
mother.

In dominant disorders a single copy of the disease gene (received from
either the mother or father) will be expressed "dominating" the other normal
gene, resulting in the appearance of the disease.  The risk of transmitting
the disorder from affected parent to offspring is fifty percent for each
pregnancy regardless of the sex of the resulting child.

In recessive disorders, the condition does not appear unless a person
inherits the same defective gene for the same trait from each parent.  If one
receives one normal gene and one gene for the disease, the person will be a
carrier for the disease, but usually will not show symptoms.  The risk of
transmitting the disease to the children of a couple, both of whom are
carriers for a recessive disorder, is twenty-five percent.  Fifty percent of
their children will be carriers, but healthy as described above.  Twenty-five
percent of their children will receive both normal genes, one from each
parent, and will be genetically normal.

Affected Population

Amyloidosis affects males and females in equal numbers.  The exception is the
Ashkenazi form of Amyloidosis that affects only males of Jewish ancestry.  AA
Amyloidosis (Secondary Amyloidosis) may occur in 3 to 5 percent of cases of
rheumatoid arthritis.  It is estimated that in the United States 1 in 100,000
to 1 in 1,000,000 people are carriers of the defective gene that causes
Hereditary Amyloidosis.

At the present time prevalence statistics for AL Amyloidosis (Primary
Amyloidosis) are not available.  It is estimated that each major teaching
hospital in the United States treats several patients each year with this
form of Amyloidosis.  A high percentage of people with Familial Mediterranean
Fever develop systemic Amyloidosis.

Related Disorders

The following disorders may be associated with Amyloidosis.  Amyloidosis may
appear in conjunction with or as a result of the following disorders:

     Multiple Myeloma
     Hodgkin's Disease
     Lymphoma Medullary carcinoma of the thyroid
     Whipple's Disease
     Crohn's Disease
     Osteomyelitis
     Rheumatoid Arthritis
     Ankylosing Spondylitis
     Reiter's Syndrome
     Psoriatic Arthritis
     Tuberculosis
     Leprosy
     Familial Mediterranean Fever
     Paraplegia
     Alzheimer's Disease

(For more information on these disorders, choose the following as search
terms on the Rare Disease Database:  "Multiple Myeloma", "Hodgkins",
"Lymphoma", "Whipple", "Crohn", "Osteomyelitis", "Ankylosing Spondylitis",
"Reiter", "Arthritis", "Tuberculosis", "Leprosy", "Mediterranean Fever",
"Paraplegia" and "Alzheimer's".)

Therapies:  Standard

Treatment for Amyloidosis is supportive and symptomatic.  In Secondary
Amyloidoses, treatment of the underlying disease may control the Amyloidosis
adequately.  This treatment must begin early in the course of the underlying
illness.  In addition, chronic colchicine therapy (a drug used to treat gout
and gouty arthritis) may improve survival in many patients.  Patients with AL
Amyloidosis, whether they have myeloma or not, may benefit from drug
therapies that are used to treat myeloma.

Patients with Amyloidosis that affects the heart may be more sensitive to
digitalis drugs.  These drugs should be used with extreme caution.

The removal of toxins and wastes from the blood by means of dialysis, or
kidney transplantation may be necessary in cases with severe kidney (renal)
involvement.  Kidney transplantation has been successful for several
patients.  It is not known whether Amyloidosis recurs in the transplanted
kidney.

Localized amyloid tumors may be surgically removed, generally without
further complications or recurrence.

The most successful treatment thus far has been the preventive use of the
drug colchicine in patients with familial Mediterranean fever.

Genetic counseling may be of benefit for patients and their families with
the hereditary forms of Amyloidosis.

Therapies:  Investigational

The Mayo Clinic is studying the use of Alpha Interferon as a treatment for
Amyloidosis.  There is also a study at the Mayo Clinic investigating the use
of two different chemotherapy programs as a treatment for Primary Systemic
Amyloidosis.  For more information, physicians may can contact:

     Morie A. Gertz, M.D.
     Dept. of Hematology & Internal Medicine
     Mayo Clinic
     Rochester, MN  55905
     [phone]

Researchers at the Boston University School of Medicine are studying a
combination of drugs (Colchicine, Melphalan and Prednisone) to determine
their long-term safety and effectiveness as a treatment for Amyloidosis
patients.

Physicians may contact:

     Dr. Martha Skinner [phone]
     Dr. Alan S. Cohen  [phone]
     Arthritis Center
     Boston University School of Medicine
     71 E. Concord Street
     Boston, MA  02118

This disease entry is based upon medical information available through
September 1992.  Since NORD's resources are limited, it is not possible to
keep every entry in the Rare Disease Database completely current and
accurate.  Please check with the agencies listed in the Resources section for
the most current information about this disorder.

Resources

For more information on Amyloidosis, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Amyloidosis Network
     7118 Cole Creek Dr.
     Houston, TX  77092
     [phone]

     NIH/National Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
     Clearinghouse
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

     Dr. Martha Skinner [phone]
     Dr. Alan S. Cohen  [phone]
     Arthritis Center
     Boston University School of Medicine
     71 E. Concord Street
     Boston, MA  02118

     Morie A. Gertz, M.D.
     Robert A. Kyle, M.D.
     Hematology Division
     Mayo Clinic
     200 S.W. First Street
     Rochester, MN  55905
     [phone]

     Dr. Merrill Benson
     Indiana University, Rheumatology A772
     1481 W. 10th St.
     Indianapolis, IN  56201
     [phone], ext. 2225

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

CECIL TEXTBOOK OF MEDICINE, 18th ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Eds.:  W. B. Saunders Co., 1988.  Pp. 359-60, 1198-1203.

THE MERCK MANUAL 15th ed.  R. Berkow, et al:  eds; Merck, Sharp & Dohme
Research Laboratories, 1987.  Pp. 1013, 1151, 1196.

MENDELIAN INHERITANCE IN MAN, 10th Ed.:  Victor A. McKusick, Editor:
Johns Hopkins University Press, 1992.  Pp. 66, 1214-15, 1786.

THE METABOLIC BASIS OF INHERITED DISEASE, 6th Ed.:  Charles R. Scriver, et
al., Editors; McGraw Hill, 1989.  Pp. 2439-2460.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 99-109.

AMYLOIDOSIS, A.S. Cohen et al.; Curr Opin Rheumatol (Feb 1991; 3(1)).  Pp.
125-138.

AMYLOID AND AMYLOIDOSES, R. Kisilevsky; Mod Pathol (Jul 1991; 4(4)).  Pp.
514-518.