Diagnostic Challenges in Rheumatology

1. Diagnostic Challenges in Rheumatology Presenter: Dr. Luis Otero, Maj, USAF, MC Contributor: Dr. James M. Scott, Lt Col, USAF, MC Travis Family Medicine Residency, Travis AFB, CA Intro: Ideas for a “hook” Ask audience members what they find challenging about Rheumatology Tell about what you find challenging about Rheumatology Transition: Keeping these challenges in mind, let’s s organize our thought s around some objectives for the next few minutes that will help us address these issues with our patients…Intro: Ideas for a “hook” Ask audience members what they find challenging about Rheumatology Tell about what you find challenging about Rheumatology Transition: Keeping these challenges in mind, let’s s organize our thought s around some objectives for the next few minutes that will help us address these issues with our patients…

2. Diagnostic Challengesin Rheumatology Objectives Take the skills and tools of the Family Physician Apply them to the realm of Rheumatology To overcome diagnostic challenges Methods = Patient Study Our objective is to take the skills and tools of the Family Physician and apply them to the realm of Rheumatology to illustrate the principles that are often useful in overcoming diagnostic challenges, not just in the field of Rheumatology, but in almost any aspect of patient care. I’ll be presenting two patients to you to demonstrate how these ideas might be applied. Transition: Let’s take a look at the skills and tools I’m referring to firstOur objective is to take the skills and tools of the Family Physician and apply them to the realm of Rheumatology to illustrate the principles that are often useful in overcoming diagnostic challenges, not just in the field of Rheumatology, but in almost any aspect of patient care. I’ll be presenting two patients to you to demonstrate how these ideas might be applied. Transition: Let’s take a look at the skills and tools I’m referring to first

3. Diagnostic Challengesin Rheumatology Skills = Intellect + Perseverance + Compassion If you don’t give up, you win! Tools = Bio-psycho-social-spiritual model Wellness - a complex interaction Challenge - attention narrowed to just one Success - improves by attending to all Through the use of the skills of… … our intellect, equipped with our medical knowledge; … perseverance, in the continuity and breadth of care we offer; … and compassion towards the complexities of our patients; We can make use of the holistic approach found in the bio-psycho-social-spiritual model of patient care to focus our patients on… … their wellness, and the complexities involved in achieving it, … by overcoming the challenge of keeping a broad focus, not narrowing our attention to just one aspect of their health … achieving success by attending to the whole person. Transition: To visualize this further, consider this graphic representation…Through the use of the skills of… … our intellect, equipped with our medical knowledge; … perseverance, in the continuity and breadth of care we offer; … and compassion towards the complexities of our patients; We can make use of the holistic approach found in the bio-psycho-social-spiritual model of patient care to focus our patients on… … their wellness, and the complexities involved in achieving it, … by overcoming the challenge of keeping a broad focus, not narrowing our attention to just one aspect of their health … achieving success by attending to the whole person. Transition: To visualize this further, consider this graphic representation…

4. Diagnostic Challengesin Rheumatology The premise of this presentation is that we can overcome diagnostic challenges by applying all of these skills and tools in our approach to our patients, not limiting ourselves to just one or two. Transition: Let’s see how this might apply to patients… The premise of this presentation is that we can overcome diagnostic challenges by applying all of these skills and tools in our approach to our patients, not limiting ourselves to just one or two. Transition: Let’s see how this might apply to patients…

5. Patient ASDay 1 26 y/o female empanelled to you Hospitalization 2/2 dehydration from AGE Onset during a cruise to the Bahamas (T-1 mo) ST, body aches, chills Diarrhea after a few days Presented w/ ongoing suprapubic cramping, tx presumptively for PID Developed worsening diarrhea, dehydration Amy is a 24 y/o female empanelled to you whom you meet for the first time during a hospitalization for dehydration due to vomiting and diarrhea, preceded by outpatient tx w/ Abx for presumptive PID.Amy is a 24 y/o female empanelled to you whom you meet for the first time during a hospitalization for dehydration due to vomiting and diarrhea, preceded by outpatient tx w/ Abx for presumptive PID.

6. Amy’s Story – Day 1 PMH/Meds: Hashimoto’s x 8 yrs – Synthroid 125mcg daily Post-concussion Syndrome – Naproxen 500mg BID Recurrent boils of bilateral LE’s – none recently Anxiety – sees a psychologist periodically Allergies PCN – Everyone in her family is allergic, so she has never taken it Cue from slideCue from slide

7. Amy’s Story – Day 1 Post-concussion Syndrome Work-related injury 4 years ago Struck in the back of her head Nuchal-Occipital Headaches 3 x/wk, “zones out” Difficulty understanding speech or comprehending info Normal CT-Head 4 yrs ago Normal MRI/MRA 4 mos ago ? Epileptiform activity on initial EEG Not confirmed on subsequent EEGs Cue from slideCue from slide

8. Amy’s Story – Day 1 PE Afebrile, tachycardic in 100-120 range WDWN NAD – normal BMI HEENT – Normal Neck – supple Abd – ND, soft, BLQ tenderness w/o rebound/guarding, nl BS, no mass, no HSM Cue from slide Cue from slide

9. Amy’s Story – Day 1 Labs/Rads – Unremarkable CBC Comprehensive Metabolic UA HCG Stool Studies WBC FOB C. Diff Cx Cue from slide Cue from slide

10. Amy’s Story – Day 1 Hospital Course Witnessed “episode” of being “zoned out” Awake (no LOC) Uncommunicative Blank stare No tonic-clonic activity Lasted about 1 min, spont resolution No post-ictal confusion, but was amnestic for the event Normal EEG awake and asleep Cue from slide Cue from slide

11. Amy’s Story – Day 1 Hospital Course Severe, sharp RLQ pain - ? Ruptured Ovarian Cyst Ongoing chronic LLQ pain Ongoing diarrhea, no fever Negative HCG Normal CBC, Chemistries Normal pelvic US Abd/Pelvic CT w/ bowel wall thickening c/w colitis from descending to sigmoid to rectum Tx w/ IVF, Cipro, pain control (IV narcotics), antiemetics Cue from slide Cue from slide

12. Amy’s Story – Day 1 Sxs improved to allow D/C on HD #5 Synthroid increased from 125mcg to 175mcg daily due to elevated TSH Gabapentin taper (for pain and ?Sz control) Naproxen 500mg po BID Flexeril 10mg po up to TID prn Cue from slide Cue from slide

13. Diagnostic Challengesin Rheumatology So let’s step back and analyze the skills and tools we are using at this point… Mainly our medical knowledge about the biological/pathophysiological disease states involved Getting a hint at the Psychological Let’s see what happens next…So let’s step back and analyze the skills and tools we are using at this point… Mainly our medical knowledge about the biological/pathophysiological disease states involved Getting a hint at the Psychological Let’s see what happens next…

14. Day 21 Outpt f/u Nuchal Headaches, “migraines” Anxiety, panic attacks A/P – Post-concussion syndrome PT and Neuro c/s Xanax 0.25mg po QID prn Cue from slide Cue from slide

15. Day 60Neuro Consult PMHx: Anxiety spells x 8-10 years Sense of panic Acute agoraphobia Hyperventilation Unprovoked, spontaneous resolution w/ time (mins) w/ Depression s/p brief tx w/ Zoloft The neurologist focuses on the anxiety spells…The neurologist focuses on the anxiety spells…

16. Day 60Neuro Consult SoHx: Quit tobacco recently after 8 pk-yrs Married to AD Living on base No children Employed as a bartender – social EtOH use PE: Normal … and the social history… and the social history

17. Day 60Neuro Consult Assessment Questionable Sz D/O – no convincing evidence Anxiety/Depression Migraines Plans Repeat EEG, sleep deprived No anti-epileptics – paucity of data Maxalt-MLT 5mg prn Transition: So the patient returns to you for follow up…Transition: So the patient returns to you for follow up…

18. Day 70Family Medicine Consult Outpatient f/u Ongoing but intermittent diarrhea and LLQ pain Occasional blood on tissue when wiping Worsening myalgias and arthralgias Diffuse, bilateral PIP, MCPs, wrists, elbows, hips, knees, ankles Disabling at times Cue from slide Cue from slide

19. Day 70Family Medicine Consult Outpatient f/u Excessive Fatigue and Memory Difficulties Late for work Job in jeopardy Moved off base – separated from husband Cue from slide Cue from slide

20. Day 70 Mother is with patient FHx M great aunt died from scleroderma/PSS M Uncle disabled from scleroderma/CREST M cousin w/ SLE No UC/Crohn’s or colon ca Childhood Hx Always ill, missing school German doctors – JRA and SLE The mother is unable to access past records or provide you with the name of any physician to contact for records.The mother is unable to access past records or provide you with the name of any physician to contact for records.

21. Day 70 Assessment - R/O IBD and/or CVDz Labs – ESR = 28; otherwise normal CRP, ANA, RF, endomyseal and gliadin antibodies Normal CPK, aldolase, AST, LDH Add T#3 for disabling pain GI Consult Rheum Consult Sleep study Cue from slide Cue from slide

22. Diagnostic Challengesin Rheumatology Stepping back again, what skills and tools are we thinking about using at this point? Biological/pathophysiological + Intellect = stronger suspicion for autoimmune or collagen vascular disease. But… There’s a lot of psychosocial overlay. Stepping back again, what skills and tools are we thinking about using at this point? Biological/pathophysiological + Intellect = stronger suspicion for autoimmune or collagen vascular disease. But… There’s a lot of psychosocial overlay.

23. Diagnostic Challengesin Rheumatology How much are these contributing to her symptoms and complaints? How do we address these other issues?How much are these contributing to her symptoms and complaints? How do we address these other issues?

24. Day 70 Psychological – Depression/Anxiety Clinic behavioral health Declines antidepressants Social - Transportation Driver’s license – paperwork to resume driving Case Management Spiritual – Frustration, alarm – “there’s nothing wrong with you” “We will continue to look for answers until we find one or we run out of options” Adding to the psychosocial model, we sense there’s what might be called a spiritual component here. The patient is frustrated and alarmed because the neurologist didn’t seem to take her seriously. He all but dismissed her symptoms as being non-organic. Sensing her growing concern that no one in the medical profession will be able to help her, you provide a “dose” of “hope”… (refer to quote) = compassion + perseverance + intellectAdding to the psychosocial model, we sense there’s what might be called a spiritual component here. The patient is frustrated and alarmed because the neurologist didn’t seem to take her seriously. He all but dismissed her symptoms as being non-organic. Sensing her growing concern that no one in the medical profession will be able to help her, you provide a “dose” of “hope”… (refer to quote) = compassion + perseverance + intellect

25. Diagnostic Challengesin Rheumatology Emphasis on combining all three (compassion + perseverance + intellect)… you look up information on CVDz and find: Emphasis on combining all three (compassion + perseverance + intellect)… you look up information on CVDz and find:

26. Neuropsych and Autoimmune Dz SLE 37 - 95% incidence Cognitive dysfunction Mood disorder Anxiety syndromes Sjoegren's syndrome Cognitive dysfunction Frontal executive disorder Attention deficit The prevalence of neuropsychiatric symptoms in systemic lupus erythematosus varies between 37 and 95%; cognitive dysfunction, mood disorder, and anxiety syndromes are especially frequent. In Sjoegren's syndrome, cognitive dysfunction is combined with frontal executive disorder and attention deficit. The prevalence of neuropsychiatric symptoms in systemic lupus erythematosus varies between 37 and 95%; cognitive dysfunction, mood disorder, and anxiety syndromes are especially frequent. In Sjoegren's syndrome, cognitive dysfunction is combined with frontal executive disorder and attention deficit.

27. Neuropsych and Autoimmune Dz Behçet's disease Memory impairment Frontal executive dysfunction Personality changes Classic polyarteritis nodosa, the Churg Strauss syndrome and Wegener's granulomatosis Cognitive changes due to inflammatory encephalopathy. Memory impairment, frontal executive dysfunction and personality changes have been reported in Behçet's disease. Classic polyarteritis nodosa, the Churg Strauss syndrome and Wegener's granulomatosis may be associated with cognitive changes due to inflammatory encephalopathy. Memory impairment, frontal executive dysfunction and personality changes have been reported in Behçet's disease. Classic polyarteritis nodosa, the Churg Strauss syndrome and Wegener's granulomatosis may be associated with cognitive changes due to inflammatory encephalopathy.

28. Neuropsych and Autoimmune Dz Cranial arteritis Treatable dementia Small-vessel primary angiitis of the CNS Encephalopathy - a frequent presentation Cranial arteritis belongs to the treatable causes of dementia. In primary angiitis of the CNS, small-vessel disease presents more frequently with encephalopathy. Transition: So you are not inclined to conclude that this patient has no organic etiology for her symptoms yet… Cranial arteritis belongs to the treatable causes of dementia. In primary angiitis of the CNS, small-vessel disease presents more frequently with encephalopathy. Transition: So you are not inclined to conclude that this patient has no organic etiology for her symptoms yet…

29. Day 90 GI Consult Colonoscopy Numerous superficial erosions in descending, sigmoid, and rectum Path – “Focal Acute Cryptitis” No crypt abscesses No lamina propria involvement c/w undifferentiated IBD vs. irritation from bowel prep vs. other acute colitis Mesalamine 1.2 g 2 tab bid And you receive the following information from your GI consultantAnd you receive the following information from your GI consultant

30. Day 110Rheumatology Consult “Fibromyalgia” “You do not have…” Crohn’s SLE Any autoimmune diseases to explain your sxs Exercise Rx PT Consult notes evidence of debilitation, mentions possible Chronic Fatigue Syndrome But your Rheumatology consultant is more inclined towards the “non-organic” side of the houseBut your Rheumatology consultant is more inclined towards the “non-organic” side of the house

31. Day 120Sleep Study No OSA No PLM D/O And your sleep study report states the following…And your sleep study report states the following…

32. Day 135Family Medicine Outpatient f/u No change in symptoms – 2-3 loose stools per day, no more blood since starting mesalamine No change in frustration – no one can tell me what’s wrong! Lost her job DMV needs more information – still can’t drive Husband holding off on divorce so patient can get benefits As she returns to you for follow up, she herself is focused on the psychosocial issues at play in her life…As she returns to you for follow up, she herself is focused on the psychosocial issues at play in her life…

33. Day 135 Teamwork Case management TCONS Results Appointment/referral management Exam room support Thankfully, you consulted Case Management at the last visit, and you have someone else on the team to handle the rapidly-filling plate of tasks that is piling up, in a patient who is demonstrating some global impairment in her psychosocial functioning.Thankfully, you consulted Case Management at the last visit, and you have someone else on the team to handle the rapidly-filling plate of tasks that is piling up, in a patient who is demonstrating some global impairment in her psychosocial functioning.

34. Day 135 Assessment/Plan r/o CVDz (Bio) Referral to University Medical Center PT Consult ? GI sarcoidosis (acute cryptitis) – ACE level elevated Chest CT negative for pulmonary sarcoidosis Gallium scan negative for sarcoidosis HLA-B27 Positive Depression/Anxiety (Psycho) Counseling Add zolpidem 10mg qhs and nortriptyline 25- 50mg qhs So you again address the four spheres of the patient’s well-being..So you again address the four spheres of the patient’s well-being..

35. Day 135 Assessment/Plan Job/Transportation/Healthcare Benefits (Social) DMV paperwork Refer to Medicaid Apply for Disability Spiritual Reinforce perseverance and compassion, focus on following all leads

36. Day 150University Rheumatology Working Diagnosis Probable Undifferentiated Connective Tissue Disease Recommendation Consult w/ University Gastroenterology for re-biopsy and evaluation by University Pathologist

37. Day 190Family Medicine New onset left facial pain in V2 distribution in pattern c/w Trigeminal Neuralgia Noticing fevers now w/ diarrhea T max = 100.3 at home Blood in stools resolved w/ Mesalamine Plan carbamazepine (effective for pain relief) Pain Management Consult Infectious Disease Consult

38. Day 210Infectious Disease Normal exam Working Diagnoses: Post-infectious Neurasthenia Depression Adjustment D/O w/ Depressed Mood Recommendations AST, TP, SPEP, ESR (all turn out normal) Reassurance – resolution expected in 12 months Though he doesn’t provide you with a “smoking gun,” your infectious disease consultant astutely identifies the potential for an organic connection between your patient’s history of infection and her chronic ongoing subsequent symptoms. Transition: Inspired, you review the connection between infectious triggers and autoimmune diseases…Though he doesn’t provide you with a “smoking gun,” your infectious disease consultant astutely identifies the potential for an organic connection between your patient’s history of infection and her chronic ongoing subsequent symptoms. Transition: Inspired, you review the connection between infectious triggers and autoimmune diseases…

39. Infections and Autoimmune Dz Etiology largely unknown Genetic abnormalities + Infections Considerable supporting data Unequivocally established in only a few

40. Infections and Autoimmune Dz Causative mechanisms Antigen specific (new Ag introduced by infectious agent) Molecular mimicry – New Ag has a peptide sequence homologous to self-Ag Ab vs. infectious agent “cross reacts” w/ self-Ag “Superantigens” – activate otherwise anergic B cells to produce autoantibodies There are two broad categories to understand when identifying the mechanisms by which infections may trigger autoimmune disease… Antigen Specific and Antigen Non-specific Molecular mimicry is perhaps them mechanism we most often think of… Whereas the “superantigen” mechanism occurs when the infectious agent introduces a peptide that, although it does not mimic the peptide sequence of native Ag; it is so highly antigenic that it stimulates a vigorous immune response. This, in turn activates B cells that were previously anergic, because they were programmed against native “self” antigents; to begin producing autoantibodies. There are two broad categories to understand when identifying the mechanisms by which infections may trigger autoimmune disease… Antigen Specific and Antigen Non-specific Molecular mimicry is perhaps them mechanism we most often think of… Whereas the “superantigen” mechanism occurs when the infectious agent introduces a peptide that, although it does not mimic the peptide sequence of native Ag; it is so highly antigenic that it stimulates a vigorous immune response. This, in turn activates B cells that were previously anergic, because they were programmed against native “self” antigents; to begin producing autoantibodies.

41. Infections and Autoimmune Dz Disease Infectious agent Grave’s disease Y. enterocolitica Type I diabetes mellitus Coxsackie viruses reovirus mumps rubella Rheumatic fever Group A Strep Rheumatoid arthritis M. tuberculosis Keep in mind, these are associations, only. A direct cause-and-effect relationship is very difficult to prove unequivocally. Keep in mind, these are associations, only. A direct cause-and-effect relationship is very difficult to prove unequivocally.

42. Infections and Autoimmune Dz Disease Infectious agent Spondylarthropathies Enterobacteriacae Klebsiella sp. Reactive arthritis Enterobacteriacae Chlamydia trachomatis SLE Retroviruses Crohn’s disease M. paratuberculosis Celiac disease Adenoviruses Transition: Let’s turn our attention back to our patient and see what the latest findings and recommendations from our consultants are…Transition: Let’s turn our attention back to our patient and see what the latest findings and recommendations from our consultants are…

43. Day 235University GI Repeat biopsies show same findings Working diagnosis – Undifferentiated Colitis of uncertain etiology Recommend continued current treatment, follow up if symptoms become uncontrolled Ophtho eval for occular manifestations = normal

44. Day 255Family Medicine Pain Management starting to get results in pain control and improved function with Methadone 10mg po TID Review of consultants’ findings and explanation of the challenges of Rheum diagnoses Patient moves in w/ her parents, now a 90 min drive to clinic Transfer to local PT, consultants where possible She returns to you for follow up 255 days since your first meeting with her. Though still somewhat discouraged by her rather imprecise diagnoses, she is relieved to know that she is making progress towards a diagnosis, and treatment plans are beginning to work. You continue to address her bio-psycho-socia-lspiritual needs by reviewing the consultants’ findings and explaining the challenges of Rheum diagnoses and placing referrals to transfer some of her care to another city, since she has moved in with her parents now and it is quite a commute to the base. Transition: 3 months later, she presents with some concerning new developments… She returns to you for follow up 255 days since your first meeting with her. Though still somewhat discouraged by her rather imprecise diagnoses, she is relieved to know that she is making progress towards a diagnosis, and treatment plans are beginning to work. You continue to address her bio-psycho-socia-lspiritual needs by reviewing the consultants’ findings and explaining the challenges of Rheum diagnoses and placing referrals to transfer some of her care to another city, since she has moved in with her parents now and it is quite a commute to the base. Transition: 3 months later, she presents with some concerning new developments…

45. Day 350Family Medicine c/o Raynaud’s symptoms, edema, palpitations Still very fatigued, minimal help w/ meds Review of sleep study shows almost no REM sleep Sleep Medicine Consult Resting tachycardia noted = 110 Resting HTN noted = 142/87 GXT - r/o exercise-induced dysrhythmia = normal Echo – normal except for resting tachycardia It appears that her autoimmune disease is now progressing with the expression of Raynaud’s phenomenon, edema, and palpitations… Her fatigue has worsened, so you review her sleep study and see, hidden in the data section of the report, she experienced almost no REM sleep during her study. A quick lit search in the exam room reveals that 20% of women with REM sleep behavior disorder have autoimmune diseases, suggesting a link between the two. You refer her to a Sleep Specialist for further evaluation. You also notice that her vital signs have become abnormal and begin to develop a differential…It appears that her autoimmune disease is now progressing with the expression of Raynaud’s phenomenon, edema, and palpitations… Her fatigue has worsened, so you review her sleep study and see, hidden in the data section of the report, she experienced almost no REM sleep during her study. A quick lit search in the exam room reveals that 20% of women with REM sleep behavior disorder have autoimmune diseases, suggesting a link between the two. You refer her to a Sleep Specialist for further evaluation. You also notice that her vital signs have become abnormal and begin to develop a differential…

46. Day 350Family Medicine DDx – carcinoid, pheo, thyroid cancer Endocrine w/u TSH – normal on current synthroid AM cortisol = 7, normal cosyntropin test Elevated chromagranin A (neuroendocrine secretory protein) 24h urine normal for Pheo and Carcinoid Normal thyroid scan, no evidence of cancer Suspecting a neuroendocrine disorder you screen for some common culprits Screening for elevated cortisol to explain her HTN, you are surprised to find her AM cortisol was low – normal. Thinking that she might have autoimmune adrenal insufficiency, you perform a cosyntropin stim test and rule out this “red herring”. After some more reading, you note that a chromogranin A level may help you decide if you need to further pursue a diagnosis in this vein. Seeing that it is elevated, you again run down a rabbit trail and you rule out evidence of pheo, carcinoid, and thyroid cancer with more definitive testing.Suspecting a neuroendocrine disorder you screen for some common culprits Screening for elevated cortisol to explain her HTN, you are surprised to find her AM cortisol was low – normal. Thinking that she might have autoimmune adrenal insufficiency, you perform a cosyntropin stim test and rule out this “red herring”. After some more reading, you note that a chromogranin A level may help you decide if you need to further pursue a diagnosis in this vein. Seeing that it is elevated, you again run down a rabbit trail and you rule out evidence of pheo, carcinoid, and thyroid cancer with more definitive testing.

47. Day 350Family Medicine Start lisinopril 5mg daily University Rheum f/u Discuss CaCB for Raynaud’s v. ACEI for HTN Feeling quite out of your league at this time, you confirm normal BUN/Cr and UA; and begin her on lisinopril to control her BP. You considered using NTG for her Raynaud’s, but the patient was reluctant due to the potential to trigger headaches. You also considered a CaCB to control both her Raynaud’s and her HTN, but decided against it because of the possibility of worsening edema. You recommend she discuss her options with her Rheumatologist.Feeling quite out of your league at this time, you confirm normal BUN/Cr and UA; and begin her on lisinopril to control her BP. You considered using NTG for her Raynaud’s, but the patient was reluctant due to the potential to trigger headaches. You also considered a CaCB to control both her Raynaud’s and her HTN, but decided against it because of the possibility of worsening edema. You recommend she discuss her options with her Rheumatologist.

48. Day 480 Sleep Medicine Delay (130 days) due to patient’s memory/social issues REM sleep disorder - r/o Narcolepsy Polysomnography with MSLT – c/w narcolepsy Associated w/ autoimmune disorders such as MS No additional tx recommendations – patient declines additional medications Became a “back burner” issue due to advances on the Rheum front 4 months later, the patient sees the sleep specialist (delay caused by memory/social issues, despite your case manager’s constant efforts to get her seen) (cue from slide) 4 months later, the patient sees the sleep specialist (delay caused by memory/social issues, despite your case manager’s constant efforts to get her seen) (cue from slide)

49. Day 510University Rheumatology Hand Ultrasound + synovitis, effusion Start Plaquenil (get baseline eye exam and annual screening thereafter) Muscle biopsy r/o polymyositis - patient declined because Plaquenil was working University Genetics Consult – r/o Familial Mediterranean Fever (negative genetic testing) The Rheumatologist appears quite interested in the development of Raynaud’s phenomenon in this patient and has several recommendations (cue from slide) The Rheumatologist appears quite interested in the development of Raynaud’s phenomenon in this patient and has several recommendations (cue from slide)

50. Day 510University Rheumatology Family enrolled in a data bank for scleroderma research Free rheum-related medical care! Transition: Intrigued by the possibility of FMF, you “re-familiarize” yourself with the condition… Transition: Intrigued by the possibility of FMF, you “re-familiarize” yourself with the condition…

51. Familial Mediterranean Fever Repeated fevers and inflammation Peritoneum Pleura Joints Mutation of MEFV gene Creates proteins involved in inflammation Sephardic Jews Armenians Arabs Others Transition: Intrigued by the possibility of FMF, you “re-familiarize” yourself with the condition… Transition: Intrigued by the possibility of FMF, you “re-familiarize” yourself with the condition…

52. Familial Mediterranean Fever Very rare Usual onset ages 5 to 15 Inflammation with high fevers Usually peak in 12 to 24 hours Attacks vary in severity Patients are usually symptom-free between attacks Skin lesions that are red and swollen and range from 5 - 20 cm in diameter may develop Transition: Intrigued by the possibility of FMF, you “re-familiarize” yourself with the condition… Transition: Intrigued by the possibility of FMF, you “re-familiarize” yourself with the condition…

53. Familial Mediterranean Fever No one test is specific Diagnosis nearly certain if… Mutation present Typical symptoms Rule out other possible conditions Colchicine Alleviate symptoms Prevent amyloidosis Transition: Amy did not fit the FMF picture completely, so continued to carry the diagnoses of “undifferentiated collagen vascular disease.” 2 months after the start of treatment with Plaquenil, the patient returns for follow up… Transition: Amy did not fit the FMF picture completely, so continued to carry the diagnoses of “undifferentiated collagen vascular disease.” 2 months after the start of treatment with Plaquenil, the patient returns for follow up…

54. Day 550Family Medicine Symptoms best they’ve been since onset More mobile f/u prn Approx every 3-4 mos over the next year w/o significant changes (cue from slide) Transition: Sadly, after another year, it is time for you to PCS, and the time has come for one final visit with your patient… (cue from slide) Transition: Sadly, after another year, it is time for you to PCS, and the time has come for one final visit with your patient…

55. Day 850Family Medicine Physician PCS visit Symptoms controlled on current meds Regaining some normalcy “What helped you the most?” You are amazed at how well the patient has been doing and she is quite thankful for your care. Curious, you comment on how this has been quite a long and difficult journey for your, and you ask her, “what helped you the most to endure through all of this?”You are amazed at how well the patient has been doing and she is quite thankful for your care. Curious, you comment on how this has been quite a long and difficult journey for your, and you ask her, “what helped you the most to endure through all of this?”

56. Day 850 “We will continue to look for answers until we find one or we run out of options.” And she pulls up the memory, all the way back from day #70, when things were looking pretty bleak, and you said, “We will continue to look for answers until we find one or we run out of options.” And in a moment of reflection, you say to yourself, “Wow, I never thought those words would mean so much.” And you’re thankful, once again, that you are a Family Physician, because…And she pulls up the memory, all the way back from day #70, when things were looking pretty bleak, and you said, “We will continue to look for answers until we find one or we run out of options.” And in a moment of reflection, you say to yourself, “Wow, I never thought those words would mean so much.” And you’re thankful, once again, that you are a Family Physician, because…

57. Diagnostic Challengesin Rheumatology You have the skills and tools that allow you take care of the whole patient…You have the skills and tools that allow you take care of the whole patient…

58. Diagnostic Challengesin Rheumatology Address the bio-psycho-social-spiritual Are they really separate issues? Build your team using intellect + compassion + perseverence Patient Case Manager Nursing Consultants If you don’t give up, you win! … using the bio-pscycho-social-spiritual model as your tool … applied with the skills of your intellect and compassion, combined with a good dose of perseverance … to build a patient care team … that can overcome challenges that might otherwise have been overlooked or dismissed. Transition: But has the game really been won? Is it ever over? You look at the latest AHLTA note to find out… … using the bio-pscycho-social-spiritual model as your tool … applied with the skills of your intellect and compassion, combined with a good dose of perseverance … to build a patient care team … that can overcome challenges that might otherwise have been overlooked or dismissed. Transition: But has the game really been won? Is it ever over? You look at the latest AHLTA note to find out…

59. Day 910Epilogue Last AHLTA note Edema worsening, 10# weight gain, 1+ protein Edema impairing mobility during exacerbations 2 falls in the past month associated w/ pain, fatigue, and edema 24 h urine protein < 5 mg/dL Nephrology consult DME request for a wheelchair, shower safety chair Cue from slide And you realize, in many situations, perseverance requires more perseverance down the road. But you’re content knowing that it means more to your patient that you were willing to walk the journey with them than it does to have found a cure. Transition: Any questions, additional thoughts or comments? (next slide) Cue from slide And you realize, in many situations, perseverance requires more perseverance down the road. But you’re content knowing that it means more to your patient that you were willing to walk the journey with them than it does to have found a cure. Transition: Any questions, additional thoughts or comments? (next slide)

60. Questions?