Post on 07-May-2015
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How do we diagnose lupus?How do we diagnose lupus?
Mariko Ishimori, MDDivision of Rheumatology
Cedars-Sinai Medical Center
Assistant Clinical Professor of Medicine, UCLA
Mariko Ishimori, MDDivision of Rheumatology
Cedars-Sinai Medical Center
Assistant Clinical Professor of Medicine, UCLA
Topics of DiscussionTopics of Discussion
Types of lupus Challenges of making the diagnosis Elements of diagnosis Specific features and criteria
Types of lupus Challenges of making the diagnosis Elements of diagnosis Specific features and criteria
What is lupus?What is lupus?
Common name for a disorder known more formally as Lupus Erythematosus
A disorder that predominantly affects women, particularly in their child-bearing years, but may be diagnosed in all age groups
Common name for a disorder known more formally as Lupus Erythematosus
A disorder that predominantly affects women, particularly in their child-bearing years, but may be diagnosed in all age groups
What is lupus?What is lupus?
Not a simple disease with easy answers
Not a simple disease with easy answers
Types of LupusTypes of Lupus
70% = Systemic lupus erythematosus (SLE) 10% = Cutaneous lupus erythematosus
(includes Discoid lupus erythematosus) 10% = Drug-induced lupus erythematosus 10% = Other overlap syndrome or mixed
connective tissue disease (MCTD)
70% = Systemic lupus erythematosus (SLE) 10% = Cutaneous lupus erythematosus
(includes Discoid lupus erythematosus) 10% = Drug-induced lupus erythematosus 10% = Other overlap syndrome or mixed
connective tissue disease (MCTD)
Why is it so difficult to diagnose?Why is it so difficult to diagnose?
Many lupus patients look healthy from the outside
Initial symptoms may be non-specific (fatigue, achiness, stiffness, low grade-temps, swollen lymph nodes, rashes)
Symptoms may develop slowly over months or years or may develop suddenly
Many lupus patients look healthy from the outside
Initial symptoms may be non-specific (fatigue, achiness, stiffness, low grade-temps, swollen lymph nodes, rashes)
Symptoms may develop slowly over months or years or may develop suddenly
A wide variety of symptoms and organ involvement may be present
A wide variety of symptoms and organ involvement may be present
Why is it so difficult to diagnose?Why is it so difficult to diagnose?
No single laboratory test establishes the diagnosis
Course of disease characterized by remissions and exacerbations
Shortage of trained rheumatologists and limited exposure to field
No single laboratory test establishes the diagnosis
Course of disease characterized by remissions and exacerbations
Shortage of trained rheumatologists and limited exposure to field
Why is it so difficult to diagnose?Why is it so difficult to diagnose?
Misunderstanding by other physicians as to how to diagnose lupus
Symptoms may be attributed to “stress” or “a virus” or “emotional problems”
Female-predominant diseases have historically have been understudied by academic medicine
Misunderstanding by other physicians as to how to diagnose lupus
Symptoms may be attributed to “stress” or “a virus” or “emotional problems”
Female-predominant diseases have historically have been understudied by academic medicine
Lupus: the “great imitator”Lupus: the “great imitator”
Even with medical attention, it may take a while to be diagnosed
Lupus can look like different diseases Some diseases it can be mistaken for
include infections and cancer
Even with medical attention, it may take a while to be diagnosed
Lupus can look like different diseases Some diseases it can be mistaken for
include infections and cancer
What do we do to diagnose lupus?What do we do to diagnose lupus?
Medical history: You will tell your doctor about your symptoms and your doctor will also ask a lot of questions regarding symptoms and other problems
Medical history: You will tell your doctor about your symptoms and your doctor will also ask a lot of questions regarding symptoms and other problems
What do we do to diagnose lupus?What do we do to diagnose lupus?
Complete physical exam: Your doctor will look for rashes, oral ulcers, hair loss, evidence of arthritis, listen to your heart and lungs, and other signs that something is wrong
Complete physical exam: Your doctor will look for rashes, oral ulcers, hair loss, evidence of arthritis, listen to your heart and lungs, and other signs that something is wrong
What do we do to diagnose lupus?What do we do to diagnose lupus?
Laboratory testing of blood & urine: Blood and urine test may show if your immune system is overactive.
Common tests include blood counts, urinalysis, creatinine and electrolytes, liver function tests, ESR, CRP, blood clotting tests, serologic or immunologic testing
Laboratory testing of blood & urine: Blood and urine test may show if your immune system is overactive.
Common tests include blood counts, urinalysis, creatinine and electrolytes, liver function tests, ESR, CRP, blood clotting tests, serologic or immunologic testing
What do we do to diagnose lupus?What do we do to diagnose lupus?
Skin or kidney biopsy: In certain patients, a minor surgical procedure is performed to remove a small sample of tissue. Tissue examined under the microscope can show signs of lupus
Skin or kidney biopsy: In certain patients, a minor surgical procedure is performed to remove a small sample of tissue. Tissue examined under the microscope can show signs of lupus
Systemic Lupus ErythematosusSystemic Lupus Erythematosus
Multi-system disorder caused by tissue damage from antibody and immune complexes
American College of Rheumatology (ACR) devised criteria for SLE in 1971
Out of eleven criteria, at least 4 must be present to meet the classification of SLE under this definition
Includes 4 skin criteria, 4 organ criteria, 3 laboratory-based criteria
Multi-system disorder caused by tissue damage from antibody and immune complexes
American College of Rheumatology (ACR) devised criteria for SLE in 1971
Out of eleven criteria, at least 4 must be present to meet the classification of SLE under this definition
Includes 4 skin criteria, 4 organ criteria, 3 laboratory-based criteria
ACR Criteria for SLEACR Criteria for SLE
1. Photosensitivity (sun sensitivity)
2. Oral ulcers (mouth sores)
3. Malar rash (butterfly rash)
4. Discoid rash
1. Photosensitivity (sun sensitivity)
2. Oral ulcers (mouth sores)
3. Malar rash (butterfly rash)
4. Discoid rash
ACR Criteria for SLEACR Criteria for SLE
5. Arthritis
6. Serositis (inflammation of lung or heart lining)
7. Kidney disorder (abnormal sediment or protein in urine)
8. Neurologic disorder (seizures, psychosis without explanation)
5. Arthritis
6. Serositis (inflammation of lung or heart lining)
7. Kidney disorder (abnormal sediment or protein in urine)
8. Neurologic disorder (seizures, psychosis without explanation)
9. Blood abnormalities (hemolytic anemia, low white cell count, low platelet count)
10. Immunologic disorder (anti-phospholipid antibody, lupus anticoagulant, anti-DNA, anti Smith, false positive syphilis test)
9. Blood abnormalities (hemolytic anemia, low white cell count, low platelet count)
10. Immunologic disorder (anti-phospholipid antibody, lupus anticoagulant, anti-DNA, anti Smith, false positive syphilis test)
ACR Criteria for SLEACR Criteria for SLE
11. Positive anti-nuclear antibody (ANA) blood test ANA test is important as a screening tool and a
diagnostic tool A positive ANA does NOT automatically mean a
patient has lupus Can be positive in many healthy people, especially
young women and in other conditions (recent infection, other autoimmune diseases)
11. Positive anti-nuclear antibody (ANA) blood test ANA test is important as a screening tool and a
diagnostic tool A positive ANA does NOT automatically mean a
patient has lupus Can be positive in many healthy people, especially
young women and in other conditions (recent infection, other autoimmune diseases)
Other symptomsOther symptoms
Fatigue Low-grade fevers Achiness Swollen lymph nodes Pain on taking a deep
breath
Fatigue Low-grade fevers Achiness Swollen lymph nodes Pain on taking a deep
breath
Raynaud’s phenomenon
Alopecia (loss of scalp hair)
Headaches Cognitive difficulties
(brain fog)
Raynaud’s phenomenon
Alopecia (loss of scalp hair)
Headaches Cognitive difficulties
(brain fog)
Cutaneous lupus erythematosusCutaneous lupus erythematosus
3 broad categories Acute cutaneous lupus erythematosus Subacute cutaneous lupus erythematosus Chronic cutaneous lupus erythematosus
3 broad categories Acute cutaneous lupus erythematosus Subacute cutaneous lupus erythematosus Chronic cutaneous lupus erythematosus
Acute Cutaneous LEAcute Cutaneous LE
May present with localized or generalized rash Most common manifestations are malar (butterfly)
rash and photosensitivity Facial swelling may be severe in some patients Symptoms may be short-lived (days to weeks) Lesions do not result in scarring
May present with localized or generalized rash Most common manifestations are malar (butterfly)
rash and photosensitivity Facial swelling may be severe in some patients Symptoms may be short-lived (days to weeks) Lesions do not result in scarring
Subacute Cutaneous LESubacute Cutaneous LE
Primarily a disease a Caucasian females
Highly sensitive to sunlight and UV exposure
Non-scarring lesions which have a typical biopsy appearance
Associated with circulating antibodies to anti-Ro
Primarily a disease a Caucasian females
Highly sensitive to sunlight and UV exposure
Non-scarring lesions which have a typical biopsy appearance
Associated with circulating antibodies to anti-Ro
Chronic Cutaneous LEChronic Cutaneous LE
The most classic form is Discoid LE
Often begin as reddish plaques, with scaling that may become thick and adherent, with a lighter central area.
Scarring with central atrophy may occur
The most classic form is Discoid LE
Often begin as reddish plaques, with scaling that may become thick and adherent, with a lighter central area.
Scarring with central atrophy may occur
Drug-induced Lupus (DIL)Drug-induced Lupus (DIL)
Refers to a condition where patients receiving therapy with a known lupus inducing drug for at least 1 month (usually months to years) and develop: Autoantibodies or laboratory features of autoimmunity Clinical signs and symptoms associated with SLE
Features include: joint and muscle aches, rash, fever, serositis, splenomegaly, ANA, anti-histone antibodies
Refers to a condition where patients receiving therapy with a known lupus inducing drug for at least 1 month (usually months to years) and develop: Autoantibodies or laboratory features of autoimmunity Clinical signs and symptoms associated with SLE
Features include: joint and muscle aches, rash, fever, serositis, splenomegaly, ANA, anti-histone antibodies
Drug-induced lupusDrug-induced lupus
Currently, 41 drugs have been associated with DIL
Important to remember that not all patients who take these drugs will get DIL
Highest risk drugs include procainamide (20% incidence) and hydralazine (5-8%incidence) during 1 year of therapy
Currently, 41 drugs have been associated with DIL
Important to remember that not all patients who take these drugs will get DIL
Highest risk drugs include procainamide (20% incidence) and hydralazine (5-8%incidence) during 1 year of therapy
Drugs implicated in DLEDrugs implicated in DLE
Procainamide (Pronestyl)
Hydralazine (Apresoline)
Quinidine (Quinaglute)
Methyldopa (Aldomet)
Captopril (Capoten)
Chlorpromazine (Thorazine)
Acebutol (Sectral)
Procainamide (Pronestyl)
Hydralazine (Apresoline)
Quinidine (Quinaglute)
Methyldopa (Aldomet)
Captopril (Capoten)
Chlorpromazine (Thorazine)
Acebutol (Sectral)
Phenytoin (Dilantin)
Carbamazepine (Tegretol)
Isoniazid/INH Minocycline (Minocin)
D-penicilliamine (Cuprimine)
Propylthoiuracil (propyl-thyracil)
Phenytoin (Dilantin)
Carbamazepine (Tegretol)
Isoniazid/INH Minocycline (Minocin)
D-penicilliamine (Cuprimine)
Propylthoiuracil (propyl-thyracil)
Drug-induced lupusDrug-induced lupus
Discontinuation of therapy with the offending drug usually results in prompt resolution of symptoms within days to weeks
Eventually autoantibodies induced by the drug may decrease and/or resolve over time (months to years)
Re-challenge with the drug will likely result in recurrence of DIL
Discontinuation of therapy with the offending drug usually results in prompt resolution of symptoms within days to weeks
Eventually autoantibodies induced by the drug may decrease and/or resolve over time (months to years)
Re-challenge with the drug will likely result in recurrence of DIL
Diagnosis of LupusDiagnosis of Lupus
Remember: Every lupus patient reacts differently
Two patients with a diagnosis of lupus may have very different manifestations!
Remember: Every lupus patient reacts differently
Two patients with a diagnosis of lupus may have very different manifestations!
Thank you!Thank you!