Diagnostic Challenges in Rheumatology

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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

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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

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Diagnostic Challengesin Rheumatology

• Skills Intellect Perseverance Compassion
• If you dont 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

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Diagnostic Challengesin Rheumatology
Biological Psychological Social Spiritual Biological Psychological Social Spiritual Biological Psychological Social Spiritual Biological Psychological Social Spiritual
Intellect Perseverance Compassion
Intellect Perseverance Compassion
Intellect Perseverance Compassion
Patient
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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

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Amys Story Day 1

• PMH/Meds
• Hashimotos x 8 yrs Synthroid 125mcg daily
• Post-concussion Syndrome Naproxen 500mg BID
• Recurrent boils of bilateral LEs none recently
• Anxiety sees a psychologist periodically
• Allergies
• PCN Everyone in her family is allergic, so she
  has never taken it

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Amys 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

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Amys 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

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Amys Story Day 1

• Labs/Rads Unremarkable
• CBC
• Comprehensive Metabolic
• UA
• HCG
• Stool Studies
• WBC
• FOB
• C. Diff
• Cx

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Amys 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

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Amys 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

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Amys 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

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Diagnostic Challengesin Rheumatology
Biological Psychological Social Spiritual Biological Psychological Social Spiritual Biological Psychological Social Spiritual Biological Psychological Social Spiritual
Intellect Perseverance Compassion
Intellect Perseverance Compassion
Intellect Perseverance Compassion
Patient
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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

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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

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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

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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

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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

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Day 70Family Medicine Consult

• Outpatient f/u
• Excessive Fatigue and Memory Difficulties
• Late for work
• Job in jeopardy
• Moved off base separated from husband

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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/Crohns or colon ca
• Childhood Hx
• Always ill, missing school
• German doctors JRA and SLE

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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 T3 for disabling pain
• GI Consult
• Rheum Consult
• Sleep study

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Diagnostic Challengesin Rheumatology
Biological Psychological Social Spiritual Biological Psychological Social Spiritual Biological Psychological Social Spiritual Biological Psychological Social Spiritual
Intellect Perseverance Compassion
Intellect Perseverance Compassion
Intellect Perseverance Compassion
Patient
23
Diagnostic Challengesin Rheumatology
Biological Psychological Social Spiritual Biological Psychological Social Spiritual Biological Psychological Social Spiritual Biological Psychological Social Spiritual
Intellect Perseverance Compassion
Intellect Perseverance Compassion
Intellect Perseverance Compassion
Patient
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Day 70

• Psychological Depression/Anxiety
• Clinic behavioral health
• Declines antidepressants
• Social - Transportation
• Drivers license paperwork to resume driving
• Case Management
• Spiritual Frustration, alarm theres nothing
  wrong with you
• We will continue to look for answers until we
  find one or we run out of options

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Diagnostic Challengesin Rheumatology
Biological Psychological Social Spiritual Biological Psychological Social Spiritual Biological Psychological Social Spiritual Biological Psychological Social Spiritual
Intellect Perseverance Compassion
Intellect Perseverance Compassion
Intellect Perseverance Compassion
Patient
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Neuropsych and Autoimmune Dz

• SLE
• 37 - 95 incidence
• Cognitive dysfunction
• Mood disorder
• Anxiety syndromes
• Sjoegren's syndrome
• Cognitive dysfunction
• Frontal executive disorder
• Attention deficit

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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.

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Neuropsych and Autoimmune Dz

• Cranial arteritis
• Treatable dementia
• Small-vessel primary angiitis of the CNS
• Encephalopathy - a frequent presentation

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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

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Day 110Rheumatology Consult

• Fibromyalgia
• You do not have
• Crohns
• SLE
• Any autoimmune diseases to explain your sxs
• Exercise Rx
• PT Consult notes evidence of debilitation,
  mentions possible Chronic Fatigue Syndrome

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Day 120Sleep Study

• No OSA
• No PLM D/O

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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
  whats wrong!
• Lost her job
• DMV needs more information still cant drive
• Husband holding off on divorce so patient can get
  benefits

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Day 135

• Teamwork
• Case management
• TCONS
• Results
• Appointment/referral management
• Exam room support

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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

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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

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Day 150University Rheumatology

• Working Diagnosis
• Probable Undifferentiated Connective Tissue
  Disease
• Recommendation
• Consult w/ University Gastroenterology for
  re-biopsy and evaluation by University Pathologist

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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

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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

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Infections and Autoimmune Dz

• Etiology largely unknown
• Genetic abnormalities Infections
• Considerable supporting data
• Unequivocally established in only a few

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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

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Infections and Autoimmune Dz

• Disease Infectious agent
• Graves disease Y. enterocolitica
• Type I diabetes mellitus Coxsackie
  viruses reovirus mumps
• rubella
• Rheumatic fever Group A Strep
• Rheumatoid arthritis M. tuberculosis

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Infections and Autoimmune Dz

• Disease Infectious agent
• Spondylarthropathies Enterobacteriacae
  Klebsiella sp.
• Reactive arthritis Enterobacteriacae
  Chlamydia trachomatis
• SLE Retroviruses
• Crohns disease M. paratuberculosis
• Celiac disease Adenoviruses

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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

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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

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Day 350Family Medicine

• c/o Raynauds 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

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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

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Day 350Family Medicine

• Start lisinopril 5mg daily
• University Rheum f/u
• Discuss CaCB for Raynauds v. ACEI for HTN

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Day 480 Sleep Medicine

• Delay (130 days) due to patients 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

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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)

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Day 510University Rheumatology

• Family enrolled in a data bank for scleroderma
  research
• Free rheum-related medical care!

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Familial Mediterranean Fever

• Repeated fevers and inflammation
• Peritoneum
• Pleura
• Joints
• Mutation of MEFV gene
• Creates proteins involved in inflammation
• Sephardic Jews
• Armenians
• Arabs
• Others

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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

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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

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Day 550Family Medicine

• Symptoms best theyve been since onset
• More mobile
• f/u prn
• Approx every 3-4 mos over the next year w/o
  significant changes

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Day 850Family Medicine

• Physician PCS visit
• Symptoms controlled on current meds
• Regaining some normalcy
• What helped you the most?

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Day 850

• We will continue to look for answers
• until we find one or
• we run out of options.

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Diagnostic Challengesin Rheumatology
Biological Psychological Social Spiritual Biological Psychological Social Spiritual Biological Psychological Social Spiritual Biological Psychological Social Spiritual
Intellect Perseverance Compassion
Intellect Perseverance Compassion
Intellect Perseverance Compassion
Patient
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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 dont give up, you win!

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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 lt 5 mg/dL
• Nephrology consult
• DME request for a wheelchair, shower safety chair

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Questions?
Biological Psychological Social Spiritual Biological Psychological Social Spiritual Biological Psychological Social Spiritual Biological Psychological Social Spiritual
Intellect Perseverance Compassion
Intellect Perseverance Compassion
Intellect Perseverance Compassion
Patient