Arthritis & Other Autoimmune Conditions

(ANG-kuh-low-sing spon-duh-LIE-tis)

This autoimmune condition causes pain, stiffness and gradual fusion of bones in the spine, often in early adulthood. It commonly affects the lower back and hips and can result in a bent-over posture which makes it harder to breathe fully.

More info: Dr. Girnita’s educational videos about ankylosing spondylitis

Diagnosis is typically through spine and joint examination via X-rays, MRIs, and/or CT scans. Sometimes it includes tests for the HLA-B27 gene.

Treatment usually includes physical therapy, NSAIDs, TNF-alpha blockers, IL-17 inhibitors, JAK inhibitors and other immunosuppressive drugs. 

Bursitis is inflammation of small, fluid-filled sacs that cushion the shoulder, elbow, hip, or knee joint. It’s often associated with repetitive motion.

Diagnosis is usually through physical exams and imaging.

Treatment usually includes light exercise, warming, stretching, or resting the joint and protecting it from further trauma. If that doesn’t help, steroid injections or draining excess fluid from the inflamed area are often recommended.

Although Ehlers-Danlos syndrome (“EDS”) is often described as “bendy person syndrome,” it is actually a group of inherited disorders that weaken connective tissue throughout the body.

More severe EDS diagnoses are associated with dysautonomia, fibromyalgia, neuropathy, and cardiovascular issues. Other systems affected include the skin, joints, and the walls of blood vessels. Joints are often so flexible that movement easily results in injury. In addition, patients may experience stretchy skin that’s translucent and bruises easily.

Some patients describe EDS as feeling “beaten by a mallet, but not enough to break bones.” Other symptoms can include dizziness, fatigue, heartburn, and problems with internal organ prolapse.

There are 13 types of EDS, most of which are rare, but the most common forms are:

• Hypermobile EDS: mainly affects joints
• Classical EDS: mainly affects the skin
• Vascular EDS: affects the circulation system and blood vessels
• Kyphoscoliotic EDS: mainly affects the spine and eyes
• Hypermobility Spectrum Disorder: a milder manifestations of the various types of EDS

Diagnosis is typically based on symptoms and patient history. Sometimes it includes genetic testing. 

Treatment is tailored to the specific EDS diagnosis. It may include physical and occupational therapy, pharmaceutical and surgical interventions to address specific symptoms, and  cognitive-behavioral therapy (CBT) to help patients build self-management skills.

Fibromyalgia is a condition characterized by joint  and muscle pain, fatigue, headaches, brain fog, tender points, and increased pain sensitivity. 

Researchers believe that it results from a brain chemistry imbalance related to the perception of pain. It usually lacks the inflammation that signals an autoimmune disease. People who have other autoimmune conditions like rheumatoid arthritis, lupus or Sjogren’s Syndrome may develop fibromyalgia.

Diagnosis is based on clinical assessment of symptoms and medical history, and review of lab results to rule out other conditions. There are no specific tests or imaging that identify fibromyalgia.

Gout is a common form of inflammatory arthritis, caused by high levels of uric acid in your body. It causes sudden, severe pain, swelling, redness and tenderness in one or more joints. It occurs most commonly in the big toe, which becomes so tender that even the weight of a bed sheet is excruciating.

Doctors use X-rays to rule out other causes of joint pain, and a blood test showing high levels of uric acid often indicates gout. A joint fluid test or dual-energy computerized tomography (DECT) scan may also be used.

Treatment often relies on drugs like colchicine, steroids, and NSAIDs to reduce inflammation and allopurinol that will decrease the production of uric acid. It is also important to use lifestyle changes to address the underlying triggers.

Inflammatory arthritis (IA) includes rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis, lupus and infectious arthritis (Lyme disease, viral induced arthritis).  

While labs help identify inflammatory markers, clinical assessment of symptoms is equally important in making the diagnosis.

Inflammatory myositis is a systemic autoimmune disease that has four forms: 

• Polymyositis, which affects shoulder, hip and thigh muscles
• Dermatomyositis, characterized by muscle weakness and a skin rash
• Inclusion body myositis (IBM), noted by weakness in the thighs, lower legs, and forearm, and in some cases, swallowing problems.
• Necrotizing autoimmune myositis (sometimes associated with medications)

Diagnostic expertise is essential, since symptoms are shared with other inflammatory conditions like vasculitis or lupus. 

Diagnosis typically combines clinical assessment of patient history and physical examination with lab tests for muscle enzymes and inflammatory markers, nerve conduction tests (electromyography, EMG evaluate electrical signals in your muscles), imaging and other procedures. Diagnosis will include antibody tests and is usually confirmed by MRIs of the muscle and muscle biopsy. Lab tests to exclude non-autoimmune neuromuscular disorders (myopathies) may also be performed.

Treatment includes high doses of steroids, IVIG and immunosuppressive drugs in certain cases.

Juvenile idiopathic arthritis, or juvenile rheumatoid arthritis, is the most common type of arthritis in children under 16. Symptoms include swollen, stiff, red, or painful joints, sometimes with fever or swollen lymph nodes. It often causes other conditions including growth disorders and potentially serious eye-related conditions.

Diagnosis usually includes lab tests for cyclic citrullinated peptide (CCP), ANA, rheumatoid factor, ESR, and CRP.

When children with JIA turn 18, then they will need to transition to an adult rheumatologist, like Dr. Girnita.

Treatment focuses on controlling inflammation and pain to maximize quality of life and physical abilities, slow or halt disease progression, and minimize potential complications.

This autoimmune condition is characterized by joint pain, rashes, tiredness, headaches, mouth sores, hair loss, and sensitivity to light. Moderate to severe cases may affect internal organs.

There are 4 types of lupus:

• Systemic lupus erythematosus (SLE): About 70% of all cases, many of which exhibit inflammation of one or more major organs like the kidneys, brain, or heart and are at risk of cardiovascular disease if not promptly treated.
• Cutaneous lupus: About 10% of cases, characterized by non-itchy rashes on the face, neck, mouth, nose, or scalp; hair loss; or changes in skin color.
• Drug-induced lupus: About 10% of cases. Symptoms are similar to SLE but result from  disappear within 6 months of discontinuation of high doses of the medication in question.
• Neonatal lupus: Around 10% of patients. Antibodies present in mothers with lupus may affect infants before and after birth. Symptoms usually disappear after 4-6 months.

Diagnosis is primarily through antibody tests: antinuclear antibody (ANA), anti-dsDNA, anti-RNP, anti-Smith (anti-Sm), anti-SS-A (also called Ro), or anti-SS-B (also called La), Complement levels.

Treatments may include antimalarials like Hydroxychloroquine, steroids and other immunosuppressive drugs (methotrexate, leflunomide, mycophenolate mofetil).

MCTD is a rare autoimmune condition with symptoms shared with lupus, scleroderma and polymyositis, including pain, joint swelling,  limited mobility, skin rashes and lesions, and organ damage (lung problems).

Diagnosis usually requires lab tests for antibodies to the U1 -small nuclear ribonucleoprotein (anti-RNP), plus clinical assessment and a review of your medical history.

Also known as immune-mediated necrotizing myopathy (IMNM), this recently-identified and serious neuromuscular disorder is characterized by muscle weakness and cramps that result from the loss of muscle cells.

Diagnostic tests usually look for: anti-signal recognition particle (SRP) autoantibodies, typical of patients with sudden and extreme muscle weakness and aches, or HMGCR (3-hydroxy-3-methylglutaryl-coenzyme A reductase), seen among patients using statins.

People with Polymyalgia Rheumatica (PMR) often experience hip and shoulder pain and stiffness, scalp and jaw pain, headaches, vision changes, and joint tenderness. Symptoms typically develop quickly and are worse in the morning. This inflammatory disorder is related to giant cell arteritis, which is a form of vasculitis. 

Diagnosis is based on clinical assessment of symptoms and medical history, plus imaging to rule out other causes of pain. Lab work focuses on inflammatory markers.

Noted by cold, pale, purplish, or numb fingers or toes, occurring at chilly but non-freezing temperatures. Severe symptoms may indicate a more serious condition such as systemic sclerosis (scleroderma), lupus, dermatomyositis or MCTD.

Diagnosis often includes a nailfold capillaroscopy to assess blood flow in your nails. This test helps your rheumatologist discern whether this condition has developed independently, or is caused by another disease. ANA (antinuclear antibody) and ESR (elevated sedimentation rate) tests can help rule out co-occurring autoimmune conditions.

This rare degenerative autoimmune disease is marked by recurring swelling, inflammation and deterioration of ear and facial cartilage (nose cartilage). In more advanced cases, deterioration of cartilage in the larynx, trachea, and elsewhere can result in heart valve and breathing difficulties. A specialist evaluation is required to make this diagnosis. Treatment can include high dose steroids and immunosuppressive drugs.

Rheumatoid arthritis is one of the most common autoimmune diseases that can affect both women and men. It may affect your hands, feel in a symmetric and bilateral pattern. Some patients can also develop lung, heart and eye problems. The diagnosis includes the patient’s history, physical exam with joint swelling, laboratory and imaging tests. 

Laboratory tests include rheumatoid factor (RF), anti-CCP antibodies and elevated markers of inflammation. X Rays can be done to see if there are any erosions of the bones. MRI is sometimes useful to evaluate the inflammation in the joints.

Treatment is complex and requires consultation with a rheumatologist. There are many classes of medications that can be tried from NSAIDs, steroids, to DMARDs (disease modifying anti-rheumatic drugs like methotrexate, plaquenil, leflunomide), or biologics (TNF- alpha inhibitors, IL-6 inhibitors, JAK inhibitors). 

Psoriatic arthritis is a disease of the joints commonly affecting people that have a history of psoriasis (an autoimmune disease of the skin). This type of arthritis can affect the joints, bones and tendons. Patients experience pain, stiffness and swelling in their joints or spine. Some patients develop lower back and hip pain. Some patients can develop uveitis, an inflammation of the eyes.

Many times the diagnosis is delayed. There are no  laboratory tests to diagnose Psoriatic arthritis. Usually, rheumatoid factor (RF) and anti-CCP antibodies are negative. X Rays can be done to see if there are any erosions of the bones. MRI is sometimes useful to evaluate the inflammation in the joints.

Treatment is complex and requires consultation with a rheumatologist. There are many classes of medications that can be tried from NSAIDs, to DMARDs (disease modifying anti-rheumatic drugs like methotrexate, leflunomide), apremilast (Otezla) or biologics (TNF-alpha inhibitors, CTLA-4 inhibitors, a IL-17 inhibitors and newer drugs JAK inhibitors).

This condition causes small clusters of inflammatory cells—granulomas—in the lungs and lymph nodes. It can also affect eyes, skin, lungs, heart and other organs. 

Symptoms include dry cough, wheezing, shortness of breath, swollen lymph nodes, and common inflammatory disease symptoms like weight loss, fatigue, skin rashes or sores, eye pain, and sensitivity to light.

Labs and imaging are used to support a diagnosis of sarcoidosis. Treatment includes steroids, immunosuppressive drugs and at times TNF-alpha inhibitors.

This disorder affects the mucous membranes and moisturizing glands of the eyes and mouth. Early symptoms often include dry eyes and dry mouth. It can manifest as an independent disease or may accompany other immune system conditions, including rheumatoid arthritis and lupus. This disease is systemic and can affect multiple organs, including the brain and spine.

Diagnosis is usually accomplished through a combination of an antinuclear antibody (ANA) test, SSA/ SSB antibodies plus tests to evaluate the dryness of the eyes and mouth (Schirmer tear test, sialogram, and a salivary scintigraphy test) or a salivary gland biopsy.

Still’s disease, a rare inflammatory arthritis, is characterized by fever, rash, sore throat, muscle and joint pain, and liver and spleen enlargement. Rheumatoid factor and ANA test are negative. 

No definitive tests exist for Still’s disease, but rheumatologists use a set of criteria that are helpful to make the diagnosis.

Systemic sclerosis (scleroderma) can be diffuse or localized.  Systemic sclerosis is diagnosed most frequently in women of childbearing age. It causes thickening of the skin, joint pain, Raunaud’s phenomenon and damages the heart, lungs, kidneys and gastrointestinal system. 

Diagnosis involves ANA, anti-Scl 70, anti-centromere and anti-RNA Polymerase III antibody tests. Lab tests, imaging, and heart and lung function testing can screen for internal organ involvement.

Diagnosis is made by a rheumatologist specialist. Treatment should avoid steroids and may include immunosuppressant drugs (mycophenolate mofetil, Rituximab).

Tendinitis (Achilles’ tendinitis, golfer’s elbow, tennis elbow, patellar tendinitis and related) is a common, non-persistent, and non-threatening inflammation of the tendons, causing pain near the joints. It is not an autoimmune condition. Treatment may include NSAIDs, steroid injections and physical therapy.

This inflammatory condition affects the uvea, which is part of the wall of the eye. Symptoms like redness, pain, blurred vision, dark floaters and light sensitivity come on suddenly and worsen quickly. Causes include infection, injury and autoimmune or inflammatory diseases (ankylosing spondylitis, psoriatic arthritis, Crohn’s disease).

Diagnosis often includes vision tests, tonometry tests of the eye’s pressure, slit-lamp examination and ophthalmoscopy (the “bright light” tests), OCT imaging of your retina, and  fluorescein angiography to examine blood flow in the retina.

Treatment can include oral and eye drops with steroids and sometimes TNF- alpha inhibitors (adalimumab/ Humira).

Vasculitis, literally “inflammation of blood vessels”, is a collection of autoimmune and inflammatory diseases that damage and eventually destroy healthy blood vessels and damage skin, muscles and internal organs if untreated. Inflamed blood vessels narrow, which restricts blood flow to skin, muscles, and other organs. Prompt treatment upon onset is crucial to avoid permanent damage.

While specifics vary by type of vasculitis, the most common symptoms include:

Vasculitis, literally “inflammation of blood vessels”, is a collection of autoimmune and inflammatory diseases that damage and eventually destroy healthy blood vessels and damage skin, muscles and internal organs if untreated. Inflamed blood vessels narrow, which restricts blood flow to skin, muscles, and other organs. Prompt treatment upon onset is crucial to avoid permanent damage.

While specifics vary by type of vasculitis, the most common symptoms include:

• Rashes or skin lesions, blisters, open sores or dead tissue
• Pale, purplish, red, or otherwise discolored skin, especially in your arms or legs
• Cold, numbness or a tingling or buzzing feeling in your arms or legs
• Whole-body pain, painful joints or difficulty standing or walking
• Headaches, fever, aches, fatigue or weakness
• Unexplained weight loss 
• Irritated eyes or ears, dry eyes, or dry throat
• Persistent dry cough, wheezing, or difficulty breathing

Lab tests and imaging help determine the specific type of vasculitis. The most common types include:

• Allergic vasculitis or hypersensitivity vasculitis: triggered by reactions to medications or environmental agents.
• Behçet’s syndrome (BEH-sutts syndrome): whole-body blood vessel inflammation associated with mouth and genital sores, severe abdominal pain, diarrhea and intestinal bleeding; sometimes misdiagnosed as inflammatory bowel disease (IBD) or Crohn’s disease.
• Buerger’s disease: vascular diseases linked to smoking. Reduces circulation in hands and feet, causing lesions and sores.
• Churg-Strauss syndrome (eosinophilic granulomatosis with polyangiitis, or EGPA): a rare vasculitis which first affects the nose, throat and sinuses. This disease can mimic adult-onset asthma, chronic nasal allergies. It can cause rashes, gastrointestinal bleeding, fever, fatigue and pain in the arms and legs.. In some patients, it can look like asthma or allergies that suddenly seem worse and won’t go away or no longer respond to treatment.
• Cryoglobulinemia (Cry-o-glob-u-lih-NEE-me-uh) and cryoglobulin-associated vasculitis: causes blood proteins to clump together and cause severe symptoms such as joint pain, rashes, liver and kidney damage.  This may be caused by hepatitis C or other infection, certain blood cancers, or autoimmune diseases like lupus, RA or Sjogren’s Syndrome. 
• Giant cell arteritis: also called “temporal arteritis,” this disorder causes severe headaches, scalp tenderness, jaw pain, and vision problems.  Untreated, it can lead to blindness or strokes. This disease can be associated with polymyalgia rheumatica. 
• Cogan’s syndrome: a rare vasculitis which can cause eye and ear pain, excessive tears, light sensitivity, tinnitus, vision or hearing impairment, and vertigo.
• Henoch-Schonlein purpura (IgA vasculitis): characterized by a purplish rash on the lower legs and buttocks, sometimes by abdominal pain, diarrhea and sore joints. More serious forms can affect the kidneys. Most commonly found in kids, but can occur also in adults.
• Kawasaki disease: can cause fever, swollen lymph nodes and swelling in the mucous membranes in the mouth, nose, eyes and throat. Prompt diagnosis and treatment is important to avoid heart complications. Primarily affects kids.
• Microscopic polyangiitis (MPA): a rare vasculitis often misdiagnosed as polyarteritis nodosa that can damage the kidneys and lungs.
• Polyarteritis nodosa (PAN): a rare vasculitis that reduces blood circulation in the kidneys, heart, intestine, nervous system, and skeletal muscles.  Untreated, it is usually fatal within 5 years.
• Primary angiitis of the central nervous system (PACNS): a rare and severe vasculitis which affects the brain and spine and reduces blood flow to the brain. Symptoms include seizures, TIAs/ strokes, loss of balance, problems walking, weakness, or vision loss.
• Rheumatoid vasculitis: Causes circulatory system inflammation in some people with long standing rheumatoid arthritis (RA). Untreated, it can cause serious complications. 
• Takayasu’s arteritis (tah-kah-YAH-sooz ahr-tuh-RIE-tis): a rare vasculitis affecting blood flow to the heart and circulatory system. Symptoms include weak pulse, abnormal blood pressure, headaches, dizziness, anemia and chest pain, and vision or memory problems. 
• Wegener’s Granulomatosis (granulomatosis with polyangiitis, or GPA): an uncommon vasculitis that affects blood circulation in your nose, sinuses, throat, lungs and kidneys. Symptoms include pus-like nasal drainage, nosebleeds, shortness of breath, wheezing, coughing and bloody phlegm. Early detection and treatment can lead to a full recovery, although it is life-threatening if untreated.