What Is The Treatment For Undifferentiated Connective Tissue Disease
There are no treatments that are approved specifically for use in patients with UCTD. The medications that physicians commonly use for UCTD are those that are effective for treating defined connective tissue diseases. The specific choice of medication for a given patient with UCTD is based primarily on the symptoms that patient is experiencing. These might include:
It is unknown whether a particular therapy might decrease the risk of disease flare or of evolution to a defined connective tissue disease. Some data suggest that treatment with hydroxychloroquine may decrease the risk or delay possible progression of UCTD to lupus, but this has not yet been confirmed in randomized controlled trials.8,9
For other symptoms that are not addressed by these medications, doctors may prescribe oral corticosteroids such as prednisone or methylprednisolone . In very rare cases, higher doses of corticosteroids or other immunosuppressive medications may be used.
What Is Connective Tissue Disease
Connective tissue disease is a general term that refers to conditions that affect your connective tissue, which includes your cartilage, tendons, skin, bone, and blood vessels. Your connective tissue contains the proteins collagen and elastin. If you have a connective tissue disease, these proteins are inflamed.
What Is The Outlook For People Who Have Connective Tissue Diseases
The outlook for people with connective tissue diseases is different for everyone. The outlook depends on what type of disease you have, whether or not you get treatment, and how effective the treatment is. Some types of connective tissue diseases may have relatively minor consequences, and some can be fatal Some types of these diseases are painful, while others have more mild symptoms.
You may be asked to make some lifestyle changes. Also, you may be asked to get vaccines for the flu or vaccine for pneumonia .
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Connective Tissue Disorder Treatment
There is currently no cure for any of the connective tissue diseases. Breakthroughs in genetic therapies, where certain problem genes are silenced, hold promise for the single-gene diseases of connective tissue.
For autoimmune diseases of connective tissue, treatment is aimed at helping to reduce the symptoms. Newer therapies for conditions such as psoriasis and arthritis can suppress the immune disorder that causes the inflammation.
- Medicines may be given to prevent immune system from attacking healthy cells or to to stop the disease from getting worse. Topical creams or lotions to control a rash or other symptoms that affect skin may be needed.
- Prescription pain medicine may be given.
- NSAIDs , such as ibuprofen, help decrease swelling, pain, and fever.
- Steroids may be given to reduce swelling and pain.
- Rest as needed. eg good sleep hygeine, resting joints if they are stiff or painful, support devices such as crutches or splints to help joints rest.
- Eat a variety of healthy foods. Healthy foods include fruits, vegetables, lean meats, fish, and low-fat dairy products.
- Physical therapists can create an exercise plan – help increase energy, keep stiff joints flexible and increase range of motion.
- An occupational therapist can help with daily activities to alleviate pain or swelling.
- Do not smoke. Nicotine and other chemicals in cigarettes and cigars can cause blood vessel and lung damage.
- Manage stress. Stress may slow healing and lead to illness.
Deterrence And Patient Education
Early recognition and proper awareness of the occurrence of undifferentiated connective tissue disease can help patients to manage and control their condition optimally.
Patients should be educated about the common offending agents and the triggering factors and help manage their symptoms.
It is also mandatory to educate patients about the symptoms that require immediate medical attention. All of these may help patients lessen the discomfort and shorten the duration of illness and prevent any complications.
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Protein And Antibody Tests
Specific antibodies are primary markers for connective tissue disease. Your blood will be tested for antinuclear antibodies , antibodies to U1 ribonucleoprotein, anti-DNA antibodies, and Smith antibodies.
Several different types of immunoassays may be used for ANA testing, each with their own advantages and disadvantages. Examples include:
- IFA: Preferred method since it’s very sensitive, but it requires expertise for interpretation
- ELISA: Results are easier to interpret and the test is more widely available, but it isn’t as sensitive
- CLIA: More sensitive than ELISA but not as sensitive as IFA can be automated
- Multiplex assay : Can analyze clusters of antibodies
Measuring muscle enzymes, like creatine kinase, aminotransferases, and lactic dehydrogenase, can help detect symptoms of myositis.
About Marfan Syndrome And Related Disorders
Your bodys connective tissues bind and support important structures like cells and organs. These tissues break down over time in people with Marfan syndrome and similar disorders. This can lead to damage in vital organs and other structures.
Two of the most dangerous complications are aortic aneurysm and aortic dissection. An aortic aneurysm results when one of the bodys main blood vessels, the aorta, becomes weak and enlarged. Eventually, the aorta can tear or dissect, which is life-threatening.
Marfan, Loeys-Dietz, and other connective tissue disorders are congenital, meaning they are present from birth. Many people have a mix of common physical characteristics, including being very tall and having long limbs and fingers, crowded teeth, and flat feet. However, not everyone has these signs, and many people do not experience symptoms and/or are not diagnosed until later in life.
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What Are Connective Tissue Diseases
A connective tissue disease is any disease that affects the parts of the body that connect the structures of the body together.
Connective tissues are made up of two proteins: collagen and elastin. Collagen is a protein found in the tendons, ligaments, skin, cornea, cartilage, bone and blood vessels. Elastin is a stretchy protein that resembles a rubber band and is the major component of ligaments and skin. When a patient has a connective tissue disease, the collagen and elastin are inflamed. The proteins and the body parts they connect are harmed.
What Is Connective Tissue Disorders
Connective tissues are groups of fibers and cells that connect the framework of the body and literally hold it together. Their functions include cushioning, protecting, supporting, insulating and strengthening the bodys tissues and organs. Examples of connective tissue are tendons, ligaments, cartilage, blood, bone, and the dermis of the skin. Because connective tissues exist in so many structures of the body, disorders of these tissues may involve a variety of symptoms, including pain and dysfunction in different areas of the body.
Connective tissue disorders are common, affecting approximately 500,000 in the United States alone. There are no significant differences in incidence among ethnic or age groups or between males and females. More than 200 types of heritable connective tissue disorders exist. Examples of heritable connective tissue disorders are Marfans syndrome and Ehlers-Danlos syndrome .
Some connective tissue disorders are the result of a dysfunction in the immune system, in which the immune system mistakenly targets connective tissue cells, resulting in inflammation. This type of connective tissue disorder is also an autoimmune disorder and includes such diseases as dermatomyositis , polymyositis , rheumatoid arthritis , scleroderma, and systemic lupus erythematosus .
Seek prompt medical care if you are being treated for connective tissue disorders but mild symptoms recur or are persistent.
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What Are The Symptoms Of Undifferentiated Connective Tissue Disease
The most common symptoms of UCTD are:
- Arthralgia joint aches.
- Arthritis joints that are tender, swollen, and warm.
- Raynaud’s phenomenon extreme color changes in the hands and feet in response to cold.
- Xerophthalmia dry eyes due to decreased tears.
- Xerostomia dry mouth due to decreased saliva.
- Pleuritis or pericarditis inflammation of the lining surrounding the lungs or heart, respectively, which may cause pain in the chest especially with deep breathing.
- Rashes, usually on the face, which can worsen after being in the sun.
- Oral ulcers sores inside the mouth.
The majority of people with UCTD do not develop major organ damage or a life-threatening disease. The hallmark of UCTD is its mild course and low likelihood of progression to a more serious condition.6
Healthcare Utilization From The Meps
Data from the MEPS, used exclusively in the economic analysis of this report, show higher levels of healthcare visits than the NIS and NAMCS. In particular, the number of ambulatory physician visits is much higher in the MEPS than in the NAMCS. Differences in how conditions are classified and data coded account for some of this, as does the inclusion of ambulatory visits in settings outside a physicians office .
From 2008-2014, an estimated 800,000 individuals in the US population had a CTD annually. Across all age groups, middle age adults represented the largest percentage of those with a CTD , followed by younger adults , older adults and children . These numbers translate into prevalence rates shown in the graph below.
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Undifferentiated Connective Tissue Disease
The term UCTD has been used to describe patients lacking adequate features to meet classification or diagnostic criteria for a well-recognized rheumatic disease. Often the term has been applied to patients early in the course of their disease before it has become fully manifest. The term was first used in the literature by LeRoy and colleagues in 1980 to describe the early phases of a connective tissue disease when the clinical and diagnostic findings were not yet specific.8 Subsequently, the term has been used similarly by a number of authors, but the exact criteria for inclusion in these studies have varied widely.919
The term as first applied was not intended to describe overlap syndrome patients who met established criteria for one or more connective tissue disease. It has been recognized in prospective longitudinal studies of UCTD that a substantial number of patients will not progress to a well-defined connective tissue disease. In fact, in one large prospective study where patients were followed for up to 10 years less than one-third of patients eventually met classification criteria for a definite rheumatic disease.
Although comprehensive epidemiologic data are not yet available, it appears that substantial numbers of patients may fall into the category of UCTD and that many such patients may remain without further differentiation. In one large study of 410 patients with connective tissue disease of less than one year in duration, over half had UCTD.9
Undifferentiated Connective Tissue Disease And Incomplete Lupus Syndromes
UCTD is a broader category than ILE or latent lupus, which are more specific terms applied to patients who have some features of SLE but in whom four of the classification criteria are not present2,3 . Organ damage other than skin is generally not present in ILE, and overall damage scores are low.4 However, patients with UCTD or ILE report decreased quality of life, which may relate to the anxiety associated with diagnostic uncertainty.5-7
A working set of criteria for classification of UCTD has been described in Chapter 2. The prevalence of UCTD is difficult to determine, but it is likely one of the more common conditions seen in rheumatology practice, and 10% to 20% of referrals to tertiary care clinics may be for this diagnosis.8
The UCTD and ILE designations include two major subsets with distinct clinical implications . The first subset consists of patients who have a stable course, relatively mild manifestations, and a good prognosis. Patients in this category may present in many forms, such as sicca syndromes that do not satisfy Sjögren’s criteria,9 Raynaud phenomenon, or arthralgias. Some are seen by providers in other specialties, such as those with cutaneous manifestations followed by dermatology providers.10,11 Autoimmune thyroid conditions are seen by endocrine providers,12 and patients with cytopenias are followed by hematologists.13 Other common scenarios lead to evaluation by neurologists.14,15
Robert W. Hoffman DO, in, 2007
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If You Or Your Child Have Any Of These Symptoms You Should Make An Appointment For Thorough Evaluation And Genetic Testing:
- Deformity of any joint or spine deformity
- Unusually short or tall stature
- Skin hyperextensibility
- Tissue fragility, poor healing and easy bruising
- Aortic dilatation/dissection, tortuosity of vessels
- Rupture of gut or uterine unexplained infarction of an organ
- Multiple fractures caused with minor or no trauma
- A family member with these medical problems
- Lens dislocation or abnormality of the cornea
- Spontaneous or recurrent collapse of the lung
- Joint hypermobility , pain in multiple joints, joint instability, and joint stiffness
Treatment For Genetic Connective Tissue Diseases
Breakthroughs in genetic therapies, where certain problem genes are silenced, hold promise for genetic connective tissue diseases.
For someone living with Ehlers-Danlos syndrome or Marfan syndrome, surgery on an aortic aneurysm can be lifesaving. These operations are particularly successful if performed prior to rupture.
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Overview Of Autoimmune Disorders Of Connective Tissue
, MD, The University of Vermont Medical Center
In an autoimmune disorder Autoimmune Disorders An autoimmune disorder is a malfunction of the body’s immune system that causes the body to attack its own tissues. What triggers an autoimmune disorder is not known. Symptoms vary depending… read more , antibodies or cells produced by the body attack the bodys own tissues. Many autoimmune disorders affect connective tissue and a variety of organs. Connective tissue is the structural tissue that gives strength to joints, tendons, ligaments, and blood vessels.
Autoimmune rheumatic disorders include
Autoimmune disorders can affect other tissues in the body beside connective tissue, and some people with autoimmune disorders of connective tissue have other kinds of autoimmune disorders, such as Hashimoto thyroiditis Hashimoto Thyroiditis Hashimoto thyroiditis is chronic, autoimmune inflammation of the thyroid gland. Hashimoto thyroiditis results when antibodies in the body attacks the cells of the thyroid glandan autoimmune… read more .
What Are The Symptoms Of Connective Tissue Diseases
Because there are so many different kinds of connective tissue diseases, symptoms may vary and may affect different parts of the body. Body parts that may be affected include:
- Heart and blood vessels.
- Lungs. Some of the diseases, like the ones mentioned above, can cause serious pulmonary issues.
- Head and face. Some of these diseases can make the face, head, eyes and ears look different than the faces and heads of other people.
- Height. Some diseases cause the people who have them to be very tall or very short.
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Inherited Disorders Of Connective Tissue
Some connective tissue diseases — often called heritable disorders of connective tissue — are the result of changes in certain genes. Many of these are quite rare. Following are some of the more common ones.
Ehlers-Danlos syndrome . Actually a group of more than 10 disorders, EDS is characterized by over-flexible joints, stretchy skin, and abnormal growth of scar tissue. Symptoms can range from mild to disabling. Depending on the specific form of EDS, other symptoms may include:
- Problems with the lungs, heart valves, or digestion
Epidermolysis bullosa . People with EB have skin that is so fragile that it tears or blisters as a result of a minor bump, stumble, or even friction from clothing. Some forms of EB may involve the digestive tract, the respiratory tract, the muscles, or the bladder. Caused by defects of several proteins in the skin, EB is usually evident at birth.
. Marfan syndrome affects the bones, ligaments, eyes, heart, and blood vessels. People with Marfan syndrome tend to be tall and have extremely long bones and thin “spider-like” fingers and toes. Other problems may include eye problems due to abnormal placement of the eye lens and enlargement of the aorta , which can lead to a fatal rupture. Marfan syndrome is caused by mutations in the gene that regulates the structure of a protein called fibrillin-1.
- Blue or gray tint to the whites of the eyes
- Teeth that break easily
Care For Adults And Children
An early diagnosis and comprehensive, expert medical care can be lifesaving for people with connective tissue disorders like Marfan syndrome and Loeys-Dietz syndrome. Because these congenital conditions can affect the heart, brain, eyes, lungs, bones, and other body systems, it is important to seek care from a team of providers who specialize in treating connective tissue disorders.
Duke specialists in cardiology, surgery, ophthalmology, pulmonology, orthopaedics, neurology, genetics, and more work together to prevent and treat serious complications like aortic aneurysms, collapsed lungs, and vision problems. Our Marfan/CTD care team is experienced in treating both children and adults.
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What Causes Connective Tissue Disease
The specific causes of most connective tissue diseases are not known. However, there are genetic patterns that are considered to increase the risk for developing connective tissue diseases. It is likely that a combination of genetic risks and environmental factors are necessary for the development of connective tissue disease.
Pregnancy Considerations In Uctd
Like many systemic autoimmune and connective tissue diseases, UCTD commonly affects women of childbearing age. Many connective tissue diseases have remissions and flares , and pregnancy may impact this pattern. Some connective tissue diseases are known to increase patients risks of certain pregnancy complications.
Early studies of pregnancy in patients with UCTD suggest that, while the vast majority of patients had successful pregnancies and delivered at term, up to 25% of patients may experience a flare of their disease during pregnancy or in the post-partum period. Symptoms are typically mild and manageable. In rare cases, disease flares during pregnancy can be more severe and lead to a diagnosis with defined connective tissue disease18,19
More recent studies have provided additional insight into potential risk factors for disease flare and complications of pregnancy in patients with UCTD. Having double-stranded-DNA antibodies may be associated with an increased risk of disease flare during,20 and having antiphospholipid antibodies may be associated with an increased risk of spontaneous pregnancy loss in patients with UCTD.21 One study found that patients with UCTD were less likely to have premature delivery and preeclampsia than patients with highly active lupus, but the frequency of these complications was similar to that seen in patients with less active lupus.22
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