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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.
Copyright (C) 1986, 1986, 1987, 1989, 1990, 1991, 1992 National Organization for
Rare Disorders, Inc.
Lyme disease is an infectious tick-transmitted inflammatory disorder
characterized by an early focal skin lesion, and subsequently a growing red area
on the skin (erythema chronicum migrans or ECM). The disorder may be followed
weeks later by neurological, heart or joint abnormalities.
The first symptom of Lyme disease is a skin lesion. Known as erythema chronicum
migrans, or ECM, this usually begins as a red discoloration (macule) or as an
elevated round spot (papule). The skin lesion usually appears on an extremity
or on the trunk, especially the thigh, buttock or the under arm. This spot
expands, often with central clearing, to a diameter as large as 50 cm (c. 12
in.). Approximately 25% of patients with Lyme disease report having been bitten
at that site by a tiny tick 3 to 32 days before onset of ECM. The lesion may be
warm to touch. Soon after onset nearly half the patients develop multiple
smaller lesions without hardened centers. ECM generally lasts for a few weeks.
Other types of lesions may subsequently appear during resolution. Former skin
lesions may reappear faintly, sometimes before recurrent attacks of arthritis.
Lesions of the mucous membranes do not occur in Lyme disease.
The most common symptoms accompanying ECM, or preceding it by a few days, may
include malaise, fatigue, chills, fever, headache and stiff neck. Less
commonly, backache, muscle aches (myalgias), nausea, vomiting, sore throat,
swollen lymph glands, and an enlarged spleen may also be present.
Most symptoms are characteristically intermittent and changing, but malaise and
fatigue may linger for weeks.
Arthritis is present in about half of the patients with ECM, occuring within
weeks to months following onset and lasting as long as 2 years. Early in the
illness, migratory inflammation of many joints (polyarthritis) without joint
swelling may occur. Later, longer attacks of swelling and pain in several large
joints, especially the knees, typically recur for several years. The knees
commonly are much more swollen than painful; they are often hot, but rarely red.
Baker's cysts (a cyst in the knee) may form and rupture.
Those symptoms accompanying ECM, especially malaise, fatigue and low- grade
fever, may also precede or accompany recurrent attacks of arthritis. About 10%
of patients develop chronic knee involvement (i.e. unremittent for 6 months or
Neurological abnormalities may develop in about 15% of patients with Lyme
disease within weeks to months following onset of ECM, often before arthritis
occurs. These abnormalities commonly last for months, and usually resolve
completely. They include:
1. lymphocytic meningitis or meningoencephalitis
2. jerky involuntary movements (chorea)
3. failure of muscle coordination due to dysfunction of the cerebellum
4. cranial neuritis including Bell's palsy (a form of facial paralysis)
5. motor and sensory radiculo-neuritis (symmetric weakness, pain, strange
sensations in the extremities, usually occurring first in the legs)
6. injury to single nerves causing diminished nerve response (mononeuritis
7. inflammation of the spinal cord (myelitis).
Abnormalities in the heart muscle (myocardium) occur in approximately 8% of
patients with Lyme disease within weeks of ECM. They may include fluctuating
degrees of atrioventricular block and, less commonly, inflammation of the heart
sack and heart muscle (myopericarditis) with reduced blood volume ejected from
the left ventricle and an enlarged heart (cardiomegaly).
When Lyme Disease is contracted during pregnancy, the fetus may or may not be
adversely affected, or may contract congenital Lyme Disease. In a study of
nineteen pregnant women with Lyme Disease, fourteen had normal pregnancies and
If Lyme Disease is contracted during pregnancy, possible fetal abnormalities and
premature birth can occur.
Lyme disease is caused by a spirochete bacterium (Borrelia Burgdorferi)
transmitted by a small tick called Ixodes dammini. The spirochete is probably
injected into the victim's skin or bloodstream at the time of the insect bite.
After an incubation period of 3 to 32 days, the organism migrates outward in the
skin, is spread through the lymphatic system or is disseminated by the blood to
different body organs or other skin sites.
Lyme Disease was first described in 1909 in European medical journals. The first
outbreak in the United States occurred in the early 1970's in Old Lyme,
Connecticut. An unusually high incidence of juvenile arthritis in the area led
scientists to investigate and identify the disorder. In 1981, Dr. Willy
Burgdorfer identified the bacterial spirochete organism (Borrelia Burgdorferi)
which causes this disorder.
Some researchers believe that genetic factors may determine whether a person
with Lyme Disease will be cured with antibiotics, or if they will not respond to
antibiotics and consequently suffer from chronic arthritis. Their response is
determined by their human leukocyte antigen (HLA) genes located on the 6th
Lyme Disease occurs in wooded areas with populations of mice and deer which
carry ticks, and can be contracted during any season of the year. Since first
identified in 1975, Lyme Disease has become more common. In 1989, 7400 cases
were reported. Lyme disease has spread to at least 45 states. New York
accounts for at least 50 percent of the reported cases.
Rheumatoid Arthritis is a disorder similar in appearance to Lyme disease.
However, the pain in rheumatoid arthritis is usually more pronounced. Morning
stiffness and symmetric joint swelling more commonly occur in rheumatoid
arthritis, and knotty lumps under the skin may be present over bony prominences.
Bony decalcification which can be prominent in Rheumatoid Arthritis is detected
on X-rays. (For more information on Rheumatoid Arthritis, please see articles
in the Prevalent Health Conditions/Concerns area of NORD Services).
Brachial Neuritis, also known as Parsonnage-Turner Syndrome, is a common
inflammation of a group of nerves that supply the arm, forearm, and hand
(brachial plexus). It is characterized by severe neck pain in the area above
the collarbone (supraclavicular) that may radiate down the arm and into the
hand. There also may be weakness and numbness (hyperesthesia) of the fingers
and hands. Although many cases have no apparent cause, this syndrome may occur
following an immunization (tetanus or diptheria), surgery, or infection with
Lyme Disease. (For more information on these disorders, choose
"Parsonage-Turner" as your search term in the Rare Disease Database.
Bell's Palsy is characterized by sudden onset of facial paralysis resulting from
a decreased blood supply to part of the head and compression of the facial
nerve. It occurs rapidly over several hours, sometimes following exposure to
cold or draft. A slight fever, pain behind the ear, a stiff neck, and
unilateral facial weakness and stiffness are among the earliest symptoms.
Babesiosis is an infection carried and transmitted by deer ticks. It can cause
disease when the tick attaches to humans. Symptoms include a malaria- like
illness, fever, lack of appetite, headache, chills, stomach pain, vomiting, and
diarrhea. In most people the diseases causes mild symptoms or no symptoms at
all. However, in very young children, the elderly and immunosuppressed persons
the disease can be life-threatening if left untreated. (For more information on
this disorder, choose "Babesiosis" as your search term in the Rare Disease
For adults with Lyme disease the antibiotic tetracycline Doxycycline and
minocycline is the drug of choice. Penicillin V and erythromycin have also been
used. In children penicillin V is recommended rather than tetracycline.
Penicillin V is now recommended for neurological abnormalities. It is not yet
clear whether antibiotic treatment is helpful later in the illness when
arthritis is the most predominant symptom. Treatment should be started as soon
as the rash appears, even before the Enzyme Linked Immunoabsorbent Assay (ELISA)
test is completed. Results of this test may be inaccurate if patients have had
antibiotics soon after contracting Lyme Disease, or in those who have weakened
If Lyme Disease is contracted during pregnancy, careful monitoring by physicians
is highly recommended to avoid possible fetal abnormalities and/or
complications. Treatment with penicillin should begin immediately to avoid the
possibility of fetal abnormalities.
For tense knee joints due to increased fluid flowing in the joint spaces
(effusions), the use of crutches is often helpful. Aspiration of fluid and
injection of a corticosteroid may be beneficial. If the patient with Lyme
disease has marked functional limitation, excision of the membrane lining the
joint (synovectomy) may be performed for chronic (6 months or more despite
therapy) knee effusions, but spontaneous remission can occur after more than a
year of continuous knee involvement.
In 1989 a new Lyme Disease antibody test, manufactured by Cambridge Biosciences
Corp., was approved by the FDA. This test is being used by local laboratories
throughout the nation, making tests more available to the general population.
However, it is 97% specific for antibodies to Lyme disease when compared to
Western blot tests, but it cannot identify the live bacteria in patients who
have not yet developed the antibodies.
Lyme Disease may reoccur in some patients resulting in chronic neurologic
disorders such as Polyneuropathy and Encephalopathy. These after-effects are
treated with antibiotics.
Researchers are trying to develop a test that will identify the Lyme disease
bacteria in patients who have not yet developed the antibodies. This would
enable doctors to diagnose Lyme disease very early in the course of the illness.
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.
For more information on Lyme Disease, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
Lyme Borreliosis Foundation, Inc.
P.O. Box 462
Tolland, CT 06084
American Lyme Disease Foundation, Inc.
Royal Executive Park, 3 International Dr.
Rye Brook, NY 10573
The National Arthritis and Musculoskeletal and Skin Diseases Information
Bethesda, MD 20892
Lyme Disease Clinic
Yale New Haven Hospital
333 Cedar Street
New Haven, CT 06510
Lyme Disease Clinic
1000 North Oak Ave.
Marshfield, WI 54449
Centers for Disease Control (CDC)
1600 Clifton Road, NE
Atlanta, GA 30333
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith,
Jr., Eds.: W. B. Saunders Co., 1988. P. 1251.
CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith,
Jr., Eds.: W. B. Saunders Co., 1988. Pp. 1726-9.
ASSOCIATION OF CHRONIC LYME ARTHRITIS WITH HLA-DR4 AND HLA-DR2, Allen C. Steere,
et al.; N. Eng. J. Med, (July 26, 1990, issue 323 (4)). Pp. 219-223.
CHRONIC NEUROLOGIC MANIFESTATIONS OF LYME DISEASE, Eric L. Logigian, M.D., et
al.; N Eng J Med, (November 22, 1990, issue 323 (21)). Pp. 1438- 1444.
Please consult PaperChase, the MEDLINE database of references to the biomedical
literature, to search for the most recent information on Lyme disease.
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Services or off the NORD Services menu.