When you hear hoofbeats, think horses…. Unless a Zebra walks into your office Presented by: Laurel Hallock Koppelman, DNP, FNP-C, APRN Assistant Professor, OHSU School of Medicine
Disclosures • I have nothing to disclose
Objectives of this presentation • Specify the incidence of rare diseases in primary and urgent care practices. • Identify “red flags” and atypical outcomes when evaluating what appears to be a benign condition • Audience participation sharing of PEARLS of wisdom • Describe the role Nurse Practitioners and other health care providers have in managing zebras in the primary care setting.
What is NOT going to happen in this lecture • Extensive pathophysiology for each condition listed • Treatment protocols for each rare illness • A ZEBRA CRYSTAL BALL door prize
Zebras on the Regular-Lisa Sanders, MD
A Lisa Sanders case walks in the office: 27 yr. old Caucasian male • Previous provider: • PMH: anxiety/depression, – Labs (WNL) vitiligo – Acupuncture – No other workup • PSH: none • Family hx: none • Here for a 2 nd opinion • Medications: Zofran, – Weight loss 100 marijuana for anxiety pounds – Nausea/Vomiting – Fatigue
Mystery man… • What are some of • More questions? your thoughts before • Diagnosis ideas? you go into the room? • Vital Signs?
More information • Previous weight: 285, now 175 lbs. • HR 98 • Temp: 98.7 • Blood pressure: 98/55 • O2: 98
Addison’s Disease • Adrenal gland • Labs: dysfunction- – Hypoglycemia hypocortisolism – Hyponatremia • 1 in 10,000 persons – Hyperkalemia – Hypercalcemia • Fatigue, hypotension, – Cortisol testing? craving for salt • Not practical in urgent • Hyperpigmentation care setting • Recognizing ADRENAL CRISIS
What is a rare disease? • “Any disease, disorder, • 7000 rare diseases in illness or condition the US. affecting fewer than • 30 million Americans 200,000 people in the are affected or United States is roughly 9% of the considered rare by the population. National Institutes of • 9.4% of the Health (NIH), the U.S. population has Type 2 Food and Drug Diabetes Administration (FDA) and NORD. ” Source: NORD, 2018
So how often will I see a rare disease? • 7000 rare diseases in • One person in 1250 the US. • RARE DISEASES • 30 million Americans ARE COMMON are affected or • They will happen and roughly 9% of the you will never forget population. them. • 9.4% of the population has Type 2 Diabetes
Medicine is often taught as heuristics RULES OF THUMB • Pattern Recognition – Woman with back pain/dysuria…we think UTI or pyelonephritis. ….but what are we forgetting? We have the potential for COGNITIVE ERRORS.
REPEAT: A Lisa Sanders case walks in 27 yr. old Caucasian male • Previous provider: – Labs (WNL) New • PMH: labs? anxiety/depression, – Acupuncture vitiligo-FROM – No other workup BIRTH? Ultrasound? GI • PSH: none referral? • Here for a 2 nd opinion • Family hx: none DOUBTFUL – Weight loss 100 • Medications: Zofran, pounds RED FLAG marijuana for anxiety – Nausea/Vomiting – Fatigue
Types of Cognitive Errors (adapted from https://www.merckmanuals.com/professional/special-subjects/clinical-decision-making/cognitive-errors-in- • Availability • Representation error: Recent error: Probability experience with findings vs prevalence
Types of Cognitive Errors • Premature • Anchoring closure: quick errors: cling to first diagnosis, fail to initial thoughts consider other possible diagnoses, and stop collecting data
Types of Cognitive Errors • Confirmation • Attribution bias occurs when errors involve clinicians selectively negative stereotypes accept clinical data that support a desired hypothesis and ignore data that do not (cherry-picking).
Types of Cognitive Errors • Affective error avoiding testing that could “hurt” or be “embarrassing”
AVOID COGNITIVE ERRORS • History/Physical • ASK – What else could it be? • Working diagnosis based on heuristics – What are the most dangerous things it • STOP. BREATHE. could be? REFLECT. THEN… – Is there any evidence at odd with this working diagnosis?
Zebras in practice: Back Pain with a twist • 32 yr old male • Back pain – Moved to Oregon for insurance – Homeless in shelter – Can’t work due to pain – ER gives limited opioids – Diagnosed as sciatica – Can’t even go to PT
Zebras in practice: Back Pain with a twist • #2 reasons for visit RED FLAGS: across America. -worsening exams • Cognitive Errors -persistent tachycardia (bias?) and htn (from the back – Work up in ED? pain?) – Unreliable historian/language barrier? – Drug seeking? – Poor?
Zebras in practice: Back Pain with a twist • Remember the unexpected can happen. • Work up of persistent HTN – Labs normal – 24 hour urine for catecholamines
Zebras in practice: Back Pain with a twist • Pheochromocytoma • Prognosis – Fever than 20,000 – Non-cancerous tumor cases yearly with surgery, 95% survival – Rare tumor that sits atop adrenal gland – Cancerous, 50% – Releases norepinephrine and epinephrine – Increases HR and BP
Zebras in practice: Unrelenting IDA • 42 yr old female • Recheck of ferritin level post infusions • Hx of depression, – 3ng/ml anxiety and fatigue • Fatigue workup • Refer to HEME – Ferritin 4ng/ml (<20 likely IDA) – Oral supplementation unhelpful – IV iron infusions
Zebras in practice: Unrelenting IDA • Patient’s daughter brought in for fatigue • Ferritin also low • Non-menstruating female
Zebras in practice: Unrelenting IDA • Mom just got back from Panama with daughter. Mom was in the Peace Corps 20 years ago.
Zebras in practice: Unrelenting IDA • Helminths – Parasitic Worms – Typically in stool that can be transmitted via food but primarily by walking barefoot where folks may have stooled.
Your turn: pair and share activity • What was your zebra? – Pearls of wisdom – If I could do it over again I would have…
Care for our zebra: The NP Role • Thorough histories and physicals • Avoid COGNITIVE ERRORS • Judicious testing but questioning when patterns do not match traditional presentation
Care for our zebra: The NP Role • Connecting patients to specialists • NORD (National Organization of Rare Disorders) – Database of 1200 diseases – Orphan Drug Act/Access medications
Care for our zebra: The NP Role • Zebras are horses too – Safety planning – Knowledge: – Advocating for general https://rarediseases.or care g/for-patients-and- • immies families/information- • screening resources/physician- • health promotion guides/
Thank you for your attention and participation!
References • Dickinson, J. A. (2016). Lesser-spotted zebras: Their care and feeding. Canadian Family Physician , 62 (8), 620-621. • Knight, A. W., & Senior, T. P. (2006). The common problem of rare disease in general practice. Medical Journal of Australia , 185 (2), 82. • McIntyre, F. L. (1993). One in a million: when extraordinary cases occur in an ordinary practice. Journal of family practice , 36 (1), 17-19. • Phillips, W. R. (2004). Zebras on the commons: rare conditions in family practice. The Journal of the American Board of Family Practice , 17 (4), 283- 286. • Zurynski, Y. A., Frith, K., Leonard, H., & Elliott, E. J. (2008). Rare childhood diseases: how should we respond?. Archives of disease in childhood .
FACT SHEET • http://cdn.raredisease • https://cdn.ymaws.co s.org/wordpressconte m/www.improvediagn nt/wp- osis.org/resource/res content/uploads/2014/ mgr/EducationFiles/C 11/NRD-1008- AEP_card_with_biase FactSheet_5.pdf s.pdf
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