MOD #113 Mon, May 19, 11am Dr. Putthoff Deana Mitchell for Jennifer Derby Page 1 of 3 CIL: Review of Immunologic Diseases Case I Patient presents with: o Pulmonary hemorrhagic manifestations o Hemorrhagic renal disease o C-ANCA is WNL (within normal limits). This type of pattern (C-antineutrophil cytoplasmic antibody assay) is specific for Wegener’s granulomatosis. o Homogenous diffuse linear pattern of immune complexes (specific for Goodpasture syndrome). What are the two likely diseases? o **Goodpasture syndrome o Wegener Granulomatosis: We can rule out this disease because the C-ANCA is within normal limits. What type of hypersensitivity reaction does this case represent (Goodpasture syndrome)? o Type II Case II Case Description: o 33 yr. old woman o Chief complaints: weakness and double vision (occurs mostly at the end of the day). o She has noted increasing weakness, which is most noticeable at the end of the day as she becomes fatigued. o The weakness occurs in her arms and face, and occasionally she is so weak that she can no longer speak or chew food. o Her double vision is often accompanied by dropping eyelids. The extraocular muscles actually have a lot of mitochondria, but they get fatigued as they become depleted. o She feels refreshed and stronger when she wakes up in the morning. o She doesn’t have headache, fever, rash, joint pain, sensory disturbances or other neurological symptoms, weight loss or depression. This is important because this may rule out an inflammatory disease that may present with fever or sickness. Diseases associated with rash: lupus, mixed connective tissue disease, etc. No joint pain indicates that this is probably not rheumatoid arthritis. What do you think of with weight loss in a 33 yr. old woman: cancer, eating disorders, may be associated with muscle loss Many times you will see people with depression who state that they are easily fatigued and worn out at the end of the day. The term fibromyalgia has surfaced which describes this overall diffuse pain or depression. Discrepancy exists between doctors whether or not his syndrome actually exists. She also has no lateralizing neurological signs- no loss of visual fields, etc. No past physiatrists history- this is important to note depression, etc. which may have nothing to do with organic disease. MOD #113 Mon, May 19, 11am Dr. Putthoff Deana Mitchell for Jennifer Derby Page 2 of 3 o She does not smoke, drink alcohol, or use illicit drugs. Again, you must have some cynicism about this and use your best judgment. o Family history is unremarkable. o Vital signs are unremarkable. o Extraoccular movements and eye muscles are intact. o Inducible muscle fatigability is present. This can be elicited by asking the patient to blink repeatedly. o Mild muscle weakness in proximal arms, and is made worse with repetitive effort o No sensory or reflex abnormalities detected. This indicates that the disease is probably myopathic and not neurological. o White cell count & platelet count WNL. o Nerve conduction tests WNL. o ANA titer not significant (greater than 160 would be significant). o Thymic mass on CT scan of chest: indicates an involuted thymus. What type of Antibodies would be present in this patient? o The diagnosis is myasthenia gravis and the Ab’s present would be antiacetylcholine receptors. o Other Choices: Anti-thyroglobulin Ab’s would be associated with Hashimoto’s disease. Anti-epidermal Ab’s would be associated with things such as pemphigus. Anti-mitochondrial Ab’s would be seen with chronic, active hepatitis. Anti-parietal Ab’s would be associated with pernicious anemia. What type of hypersensitivity reaction does this case represent? o Type II. o The Ag-Ab complex occurs at the site of injury. Case III Description: o 39 yr. old female o Complains of muscle weakness, gradual onset, worsening over the past few months, now difficult to carry heavy objects or climb stairs. o Fatigue o Skin rash around eyes, which started at the same time as the other symptoms. o No significant past medical or family history o Does not smoke, drinks alcohol on only festive occasions, denies the use of illicit drugs. o Symmetrical proximal muscle weakness o Mild atrophy in upper and lower proximal extremities o Normal distal muscle strength o Babinski reflex is unremarkable. o ANA is negative o Note a rash around eyes that only involves eyelids and is associated with periorbtal edema o P-ANCA is negative o CPK of 338 (elevated). o Anti- Jo-1 Ab test: strongly positive o Muscle biopsy reports atrophy, immune complexes within capillary walls, and lymphacytic infiltration. MOD #113 Mon, May 19, 11am Dr. Putthoff Deana Mitchell for Jennifer Derby Page 3 of 3 The Ab’s associated with this patient (Jo-1) are against what type of antigens? o Histidyl-tRNA synthetase, associated with inflammatory myopathies. o Diagnosis: Dermatomyositis; It has an increase in visceral carcinomas. Case IV Description: o 27-yr. old female patient o Presents with knee and hand pain with redness in hands and knees o Initially she experienced morning stiffness in addition to swelling and tenderness in both hands. o She notes malaise (“I feel bad”), fatigue, and low grade fever o PMH is unremarkable. o Drugs: ibuprofen (non steroidal anti-inflammatory) o She states that used to help her but now it is not working. o Not sexually active, drinks occasionally, smokes cigarettes o Pain in women who smokes is significant because they tend (more so than men) to get a disease called Berger’s Disease where distal vasculature becomes necrotic or vasoconstricted. o No significant FH. o PE: low grade fever, no acute distress o In your differential and diagnosis, make sure to check if the patient is actually SICK and feeling bad. o Proximal IP (inner phalangeal) and MCP (metacarpophalangeal) joints are tender o Increased temperature and tenderness of knee o Limited ROM by pain. o No rashes or other abnormalities detected o WBC count, creatine, uric acid all WNL. o Uric acid is important in syndromes such as gout o ANA titer is negative. o Sedrate is elevated. o Joint fluid analysis by aspiration is negative for crystals or bacteria. Bacteria would be present in a septic arthritis. In young, sexually active people, this would tend to be associated with gonorrhea. In a broad category, this type of disease would be associated with what other disorder? o Sjogren Syndrome (Page 225, first paragraph under the title). o “Among the common disorders, rheumatoid arthritis is the most common…” o Diagnosis for this case: rheumatoid arthritis