Step 1 Autoimmune Diseases

Question 1

What is Microscopic polyangiitis?

Answer 1

Similar condition granulomatosis with polyangiitis, but the trigger that initiates this condition is not known.

Question 2

What symptoms are associated with Microscopic polyangiitis?

Answer 2

fever, anorexia, weight loss, fatigue, and renal failure (rapidly progressing glomerulonephritis is possible)

Question 3

Clinical findings with Microscopic polyangiitis?

Answer 3

p-ANCA with specificity for myeloperoxidase or MPO-ANCA (a granule component of neutrophils)

Question 4

Diagnosis of Microscopic polyangiitis?

Answer 4

renal function tests; measurement of MPO-ANCA titers

Question 5

Treatment of Microscopic polyangiitis?

Answer 5

plasma exchange, anti-inflammatory drugs

Question 6

What is Bullous pemphigoid?

Answer 6

an acute or chronic autoimmune skin disease, involving the formation of blisters, more appropriately known as bullae, at the space between the skin layers epidermis and dermis

Question 7

Cause of Bullous pemphigoid?

Answer 7

autoimmune condition mediated by IgG specific for 2 proteins Dystonin (also called bullous pemphigoid Antigen 1) and/or type XVII collagen (also called bullous pemphigoid Antigen 2)

Question 8

Symptoms of Bullous pemphigoid?

Answer 8

bullae (deep blisters) erupt, most commonly at the inner thighs and upper arms, but the trunk and extremities are frequently both involved. Any part of the skin surface can be involved. Oral lesions are present in a minority of cases

Question 9

Diagnosis of Bullous pemphigoid?

Answer 9

based on two biopsies of the skin, one submitted for routine H&E staining and one for immunofluorescence studies

Question 10

Treatment of Bullous pemphigoid?

Answer 10

topical steroids and other anti-inflammatory drugs

Question 11

What is Hashimoto’s thyroidosis?

Answer 11

autoimmune condition that typically results in hypothyroidism (although some patients experience periods of hyperthyroidism. Can be mediated by CD4 and-or CD8 T cells or antibodies, and ADCC appears to play an important role in some patients (Ab-mediated, of course).

Question 12

What are the symptoms of Hashimoto’s?

Answer 12

weight gain, depression, mania, sensitivity to heat and cold, paresthesia, chronic fatigue, panic, bradycardia, tachycardia, congestive heart failure, high cholesterol, reactive hypoglycemia, constipation, migraines, muscle weakness, joint stiffness, menorrhagia, myxedematous psychosis, cramps, memory loss, vision problems, infertility and hair loss

Question 13

What is the cause of Hashimoto’s?

Answer 13

T cell infiltrates result in destruction of thyroid cells (mediated by CD8 and/or CD4 T cells); antibodies specific for thyroid peroxidase (TPO) and/or thyroglobulin can cause gradual destruction of follicles in the thyroid gland

Question 14

Diagnosis of Hashimoto’s?

Answer 14

detecting elevated levels of auto antibodies specific for thyroid microsomes (antimicrosomal Ab), thyroglobulin (antithyroglobulin Ab), and thyroid peroxidase (anti-TPO Ab) in the serum; Testing for thyroid-stimulating hormone (TSH), Free T3, Free T4, and the anti-thyroglobulin antibodies (anti-Tg), anti-thyroid peroxidase antibodies (anti-TPO) and anti- microsomal antibodies can help obtain an accurate diagnosis

Question 15

Treatment of Hashimoto’s?

Answer 15

thyroid hormone replacement therapy

Question 16

What is Polymyositis?

Answer 16

an autoimmune disease mediated by CD4 and CD8 T cells (type 4 hypersensitivity)

Question 17

What are the symptoms of Polymyositis?

Answer 17

pain, marked weakness and/or loss of muscle mass in the proximal musculature, particularly in the shoulder and
pelvic girdle. The hip extensors are often severely affected, leading to particular difficulty in ascending stairs and rising from a seated position. Thickening of the skin on the fingers and hands (sclerodactyly) is a frequent feature, although this is non- specific and occurs in other autoimmune connective tissue disorders

Question 18

Cause of Polymyositis?

Answer 18

It is hypothesized that an initial injury causes release of muscle auto antigen, which is subsequently taken up by macrophages and presented to CD4+ T helper cells. Activated TH cells synthesize IFN-γ that stimulate further macrophages and further inflammatory mediator release like IL-1 and TNF-α. Another important event in the pathogenesis of polymyositis is the increased expression of MHC proteins by m/s cells. Auto-Ag is presented in association with MHC-I molecules on the surface of myocytes and is recognized by CD8 cytotoxic T cells that subsequently initiate cell destruction

Question 19

Diagnosis of Polymyositis?

Answer 19

is fourfold, including elevation of creatine kinase, history and physical examination, electromyograph (EMG) alteration, and a positive muscle biopsy

Question 20

Lab findings of Polymyositis?

Answer 20

antibodies: anti Jo-1 antibodies (in >65% of patients); anti-SRP (signal recognition particle) antibodies; anti-Mi- 2 antibodies (Mi-2 antigen is a component of the nuclesome remodeling-deacetylase complex involved in transcriptional regulation.
o elevated serum creatine kinase is characteristic, but not specific to polymyositis.
o treatment: line treatment for polymyositis is corticosteroids; other anti-inflammatory agents used in non-responsive
patients
• Dermatomyositis: similar to polymyositis except that both muscles and skin are involved

Question 21

What is Celiac disease?

Answer 21

(also called Coeliac disease or celiac sprue): autoimmune condition of the small intestine that is caused by hypersensitivity to gluten; autoimmune response causes damage to intestinal villi, diminishing intestinal absorption

Question 22

Symptoms of Celiac disease?

Answer 22

pain and discomfort in the digestive tract, chronic constipation and diarrhea, failure to thrive (in children), anemia and fatigue

Question 23

Genetic pre-disposition to Celiac disease?

Answer 23

Almost all people with coeliac disease have either the variant HLA-DQ2 allele or (less commonly) the HLA-DQ8 allele

Question 24

Causes of Celiac disease?

Answer 24

It is unclear whether this disease is mediated by auto-antibodies alone, CD4 or CD8 T cells alone, or some combination of those three immune responses. It is likely a combination of all three.

Question 25

Clinical findings of Celiac disease?

Answer 25

anti-tissue transglutamase antibodies (anti-tTG) are highly diagnostic; another good diagnostic is the presence of antiendomysial antibodies in the patient’s serum. The antiendomysial antibody test is a histological assay for patient serum binding to esophageal tissue from on-human primates.

Question 26

What is Polyarteritis nodosa?

Answer 26

a systemic autoimmune vasculitis characterized by necrotizing inflammatory lesions that affect medium-sized and small muscular arteries, preferentially at vessel bifurcations, resulting in microaneurysm formation, aneurysmal rupture with hemorrhage, thrombosis, and, consequently, organ ischemia or infarction.

Question 27

Causes of Polyarteritis nodosa

Answer 27

it is believed to be autoimmune, but the effectors of tissue damage remain unidentified. The fact that rituximab (anti-CD20 MAb) treatment can be effective, it seems likely that B cell responses are the effectors

Question 28

Symptoms of Polyarteritis nodosa

Answer 28

fever, fatigue, weakness, loss of appetite, and weight loss. Muscle and joint aches are common. The skin show rashes, swelling, ulcers, and lumps. Neurological symptoms can occur (numbness, pain, burning, and weakness); kidney damage occurs in some cases

Question 29

Clinical Findings of Polyarteritis nodosa

Answer 29

small aneurisms strung like the beads of a rosary; elevated CRP, arteritis noted upon biopsy; elevated CBC and ESR

Question 30

Treatment of Polyarteritis nodosa?

Answer 30

immunosuppressants (prednisone and cyclophosphamide); rituximab treatment sometimes induces remission

Question 31

What is 1st biliary cirrhosis?

Answer 31

an autoimmune disease of the liver with unknown etilology. Marked by the slow progressive destruction of the small bile ducts of the liver, resulting in buildup of bile (cholestasis) that damages the tissue over time.

Question 32

Cause of 1st biliary cirrhosis

Answer 32

unknown

Question 33

Symptoms of 1st biliary cirrhosis

Answer 33

fatigue, pruritus (itchy skin), jaundice, xanthoma (local collections of cholesterol in the skin, especially around
the eyes [xanthelasma]), and complications of cirrhosis and portal hypertension (Fluid retention in the abdomen [ascites],
hypersplenism, esophageal varices, and hepatic encephalopathy (including coma in extreme cases)

Question 34

Clinical findings of 1st biliary cirrhosis

Answer 34

anti-mitochondrial antibodies (AMA, specific for pyruvate dehydrogenase complex [PDC-E2]) in 90% of patients; anti-nuclear antibody (ANA); deranged liver function tests

Question 35

What is Autoimmune hepatitis?

Answer 35

similar in many ways to 1 ̊biliary cirrhosis. It is an autoimmune condition of unknown etiology.

Question 36

Cause of Autoimmune hepatitis?

Answer 36

unknown

Question 37

Symptoms of Autoimmune hepatitis?

Answer 37

similar to 1 ̊ biliary cirrhosis except for the bile-duct specific damage that occurs in 1 ̊ biliary cirrhosis

Question 38

Clinical findings of Autoimmune hepatitis?

Answer 38

presence of ANA and anti-smooth muscle antibodies (SMAs); deranged liver function tests

Question 39

Treatment of Autoimmune hepatitis?

Answer 39

the corticosteroid prednisone in combination with azathioprine

Question 40

What is Churg-Strauss syndrome?

Answer 40

an autoimmune medium and small vessel vasculitis in persons with a history of airway allergic hypersensitivity (atopy). It usually (but not always) manifests in three stages. The early (prodromal) stage is marked by airway inflammation: almost all patients experience asthma and/or allergic rhinitis; the second stage is characterized by abnormally high numbers of eosinophils (hypereosinophilia), which causes tissue damage, most commonly to the lungs and the digestive tract. The third and final stage consists of vasculitis, which can eventually lead to necrosis and is potentially life threatening.

Question 41

Cause of Churg-Strauss syndrome?

Answer 41

the cause of the eosinophilia is unknown. Some of the inflammation is certainly caused by neutrophils that are stimulated by anti-neutrophil cytoplasmic antibodies (ANCA). Priming of ANCA likely occurs because of the frequent and/or chronic inflammation that accompanies asthma and other upper airways hypersensitivities.

Question 42

Symptoms of Churg-Strauss syndrome?

Answer 42

highly variable presentation that ranges from mild (skin lesions and nasal polyps) to severe and life threatening (gastrointestinal involvement and heart disease). Almost all patients experience asthma or allergic rhinitis. Most experience hypereosinophilia (weight loss, night sweats, asthma, cough, abdominal pain, and gastrointestinal bleeding). Most patients experience vasculitis that can cause symptoms all over the body. Some patients develop non- vascular granulomas

Question 43

Diagnosis of Churg-Strauss syndrome?

Answer 43

presence of myeloperoxidase-specific p-ANCA (or MPO-ANCA) is highly diagnostic.

Question 44

Treatment of Churg-Strauss syndrome?

Answer 44

lucocorticoids (such as prednisolone) and other immunosuppressive drugs