The document describes the case of a 22-year-old woman who presented to the emergency department with diffuse abdominal pain for the past 48 hours. Her medical history included depression, prior appendectomy, cholecystectomy, and hysterectomy. Initial labs and imaging, including a CT scan, were unremarkable. Additional history revealed the patient's father was of Finnish descent and her urine was reddish-brown. A urine test found highly elevated porphobilinogen levels, leading to a diagnosis of acute intermittent porphyria. She was treated with IV dextrose and hemin and discharged after her symptoms resolved. The case highlights the importance of considering rare diseases and gathering additional history clues to reach the correct diagnosis.
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Illness Script Case Teaching Guide
1. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Teaching slides based on:
Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR.
A 22-year-old woman with abdominal pain.
J Gen Intern Med. 2014 Jul;29(7):1074-8.
2. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Illness Scripts
» An illness script is a structured mental
summary of a provider’s knowledge
about a specific disease
» Illness scripts are unique to individual
clinicians, but 3 main categories are
generally included:
‣ Risk factors for the disease
‣ Pathophysiology
‣ Clinical characteristics
3. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Illness Scripts
• Clinical characteristics contained in
illness scripts often include:
‣ Time course
‣ Characteristic Symptoms/Signs
‣ Typical Clinical Course
‣ Diagnostics
‣ Treatment
4. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Illness Script Example:
Community Acquired Pneumonia
Infection of the lower respiratory tract
Older age, structural lung disease
Fever, cough, shortness of breath for days,
typically less than one week.
Leukocytosis,infiltrate on chest x-ray support
the diagnosis.
Antibiotics
Pathophysiology
Epidemiology
Symptoms/Signs
Diagnostics
Treatment
5. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
The Case
Chief Complaint: Abdominal Pain
HPI
A 22-year-old woman presents to the emergency
department with abdominal pain for the last 48 h. Her
pain is diffuse in location, aching in nature, 9/10 in
severity, and does not localize. She has no clear
aggravating or alleviating factors. She had
uncomplicated cystitis 1 week prior and is now
completing a course of trimethoprim-sulfamethoxazole.
6. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Outline your illness scripts for your top three diagnoses
Pause
Pathophysiology
Epidemiology
Symptoms/Signs
Diagnostics
Treatment
7. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
More HistoryMore History
Medications
• Intermittent opioids
Social History
• Lives with boyfriend
• Monogamous
• Unemployed
• Modest alcohol use
• Smokes 1/2 ppd
PMH
• Depression
PSH
• Appendectomy
• Cholecystectomy
• Hysterectomy
Family History
• Unknown, adopted
8. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Physical Exam
T 370C BP 112/73 HR 114 RR 16 Sat 98% RA
• Young woman in moderate distress, no jaundice
• Chest: clear
• CV: tachycardic but no murmurs
• Abdomen: old surgical scars, soft, non tender,
hypoactive bowel sounds, no rebound, voluntary
guarding present
• Remainder of the exam is normal
9. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Pause
How does this information change your
differential diagnosis?
10. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Labs
132 102 22
0.9234.3
13
1647.9
102
39
ALT 23
AST 18
Alk Phos 60
PT 11.4
Tbili 0.4
Protein 7.5
Albumin 3.9
Urinalysis:
Red-brown, SG 1.030, pH 6.5, 1+blood, 1+LE, 1+ nitrite,
0-2 RBC, 10-20 WBC, trace bacteria
11. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Imaging
12. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Imaging
CT abdomen/pelvis with contrast
Surgically absent gallbladder, appendix,
and uterus; otherwise normal.
13. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Pause
• What is your one line summary at this point?
• Compare/Contrast illness scripts for diseases in
your differential
Pathophysiology
Epidemiology
Symptoms/Signs
Diagnostics
Treatment
14. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
CASE CONTINUEDImaging Negative Abdominal Pain
Luminal
Vascular
Neurologic
Other
• Crohn’s
• Acute Mesenteric
Ischemia
• Herpes Zoster
• Primary Adrenal
Insufficiency
• Eosinophilic
Gastroenteritis
• Diabetic
Polyradiculopathy
• Hypercalcemia• Median Arcuate
Ligament Syndrome
• Hereditary
Angioedema
• Uremia
• Lead toxicity
• Abdominal Migraine
15. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Pause
What would you do next?
16. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
More Information
• Father was of Finnish
descent
• Urine in collection bag was
reddish-brown
17. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Diagnostic Test Was Performed
Urine porphobilinogen
184 mg/L (normal: 0-4 mg/L)
18. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Acute Intermittent Porphyria
Pathophysiology
Epidemiology
Symptoms/Signs
Diagnostics
Treatment
Porphobilinogen Deaminase deficiency
Young Women > Men, Scandinavian
heritage. Multiple prior surgeries
Episodic, diffuse abdominal pain,
constipation, depression, seizures, dark
urine
Elevated prophobilinogen
IV Dextrose, IV Hemin
19. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Patient Outcome
• IV dextrose started at diagnosis
• IV hemin given the next day
• Discharged home on hospital day 6
• Significant emotional relief after diagnosis
• No further attacks one year later
20. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Your Take-Homes?
21. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Illness Scripts
• Illness scripts for rarer diseases are
inherently less detailed
• The key to diagnosis lies in appropriately
selecting which details to commit to memory
• “The skillful workman is very careful indeed
as to what he takes into his brain-attic.”
- Sherlock Holmes, A Study in Scarlet
22. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
• Teaching slides are based on: Jones B, Brzezinski
WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-
year-old woman with abdominal pain. J Gen Intern
Med. 2014 Jul;29(7):1074-8.
• This work by R Geha, DM Connor, J Kohlwes, R
Sedighi Manesh is licensed under a Creative
Commons Attribution-NonCommercial-ShareAlike
4.0 International License
23. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
References
• Anderson K. Recommendations for the diagnosis and treatment of
the acute porphyrias. Ann Intern Med 2005; 142:439-450
• Benjamin Jones, Walter A. Brzezinski, Carlos A. Estrada, Martin
Rodriguez, Ryan R. Kraemer. A22-Year-Old Woman with
Abdominal Pain. J Gen Intern Med. 2014 Jul; 29(7): 1074–1078.
• Bloomer J and McGuire B. The diagnosis and management of
acute porphyrias. Medscape Hematology-Oncology.
Medscape.com
• Bowen JL. Educational Strategies to promote clinical diagnostic
reasoning. N Engl J Med. 2006 Nov 23; 355(21):2217-25.
• Bylesjo I. Clinical aspects of acute intermittent porphyria in
northern Sweden: a population-based study. Scand J Clin Lab
Invest 2009;69:612-618
24. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
25. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Crohn’s Disease
Previous Slide
Pathophysiology
Epidemiology
Symptoms/Signs
Diagnostics
Treatment
Granulomatous transmural inflammatory
disorder of the GI tract
Bimodal; peaks distribution: 20-40, 50-60
Family history
Episodic abdominal pain, diarrhea, extra-
intestinal manifestations
Colonoscopy: Skip lesions
Path: Inflammation. Granulomas in 30%
Immunosuppression
26. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Acute Mesenteric Ischemia
Previous Slide
Pathophysiology
Epidemiology
Symptoms/Signs
Diagnostics
Treatment
Impaired perfusion of the mesentery
Atrial fibrillation, endocarditis,
atherosclerosis
Hyperacute abdominal pain out of
proportion to exam.
Peritoneal symptoms in later stages
Angiography: Non-invasive angiography
(CT, MR) may be negative in the early
phase.
Treat the underlying cause, anticoagulation,
bowel resection often necessary
27. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Primary Adrenal Insufficiency
Previous Slide
Pathophysiology
Epidemiology
Symptoms/Signs
Diagnostics
Treatment
Most commonly autoimmune or infectious
destruction of the adrenal gland.
History of autoimmune endocrinopathy,
Exposure to tuberculosis
Subacute Abdominal pain, weight loss,
orthostasis.
Hyponatremia, hyperkalemia
Low AM cortisol, positive cosyntropin stim
test
Glucocorticoid, mineralocorticoid
replacement
28. Based on Jones B, Brzezinski WA, Estrada CA, Rodriguez M, Kraemer RR. A 22-year-old woman with abdominal pain
J Gen Intern Med. 2014 Jul;29(7):1074-8’ Created by R Geha, DM Connor, J Kohlwes, R Sedighi Manesh
Herpes Zoster
Previous Slide
Pathophysiology
Epidemiology
Symptoms/Signs
Diagnostics
Treatment
Reactivation of latent varicella virus
Older age, immunosuppression
Acute neuropathic pain, dermatomal
distribution, followed by rash
Classic appearance of rash on exam,
biopsy, antigen or DNA testing
Acyclovir
Editor's Notes
Available online at http://www.sgim.org/web-only (under Exercises for Clinical Reasoning)
Teacher’s guide
1. Definition of Illness script (IS)
2. Core components of an IS – here, we are paraphrasing the 3 main categories in an IS discussed in Bowen JL. Educational strategies to promote clinical diagnostic reasoning. N Engl J Med. 2006 Nov 23;355(21):2217-25.
-On the next slide, we include an expanded set of characteristics clinicians’ may encode in illness scripts
-Useful to discuss the fact that each clinicians’ script is unique, and related to their prior experience with a given disease
Teacher’s guide
1. Expanded list of the kinds of clinical features clinicians often store in their illness scripts
-May discuss that additional categories not included here may be pertinent for some scripts. For example, complications, may be an integral IS component for certain illness scripts (vision loss for temporal arteritis)
-May discuss that memories of prior specific patients with a given disease may be stored in an illness script (i.e. Mr. X demonstrated how rapidly patients with MRSA pneumonia can decompensate)
2. An example IS is listed on the next slide
Teachers guide:
1. Storing information in a concise and structured manner has the following advantages
-Helps protect from storing too much extraneous information about a disease
-Helps identify gaps in knowledge base
-The structured format makes it easier to store new information by “filing” it in the correct section of the illness script
2. May comment on the dynamic nature of an IS. With experience, providers may add/delete/highlight aspects of their scripts.
3. May discuss that part of the power of considering a structured IS is in comparing/contrasting related scripts (i.e. what distinguishes your script for Community Acquired Pneumonia from your script for Congestive Heart Failure? What are the key features that differentiate these two scripts?)
4. As noted earlier, more experienced clinicians may include additional clinical features as described on the previous slide
Teacher’s guide
1. Consider asking students/trainees to give their one-liner to help focus their thinking prior to generating a differential diagnosis
2. At this juncture, top diagnostic considerations include
- Hepatobiliary disease e.g cholecystitis, pancreatitis
- GI pathology e.g appendicitis
- GU pathology e.g ovarian torsion; ectopic pregnancy
When the learners raise a diagnostic possibility, consider asking them to describe their understanding of the disease process in the form an illness script (i.e. with the help of the table on the slide); focus on drawing out what the differentiating features are between these competing illness scripts.
3. It will likely be high yield to review the scripts for
- Pancreatitis
- Cholecystitis
- Appendicitis
Teacher’s Guide
1. Consider asking a student to guide the class through their thoughts on the history and physical exam – consider asking them to focus on discussing whether this information impacts their current prioritized differential diagnosis and why.
Teacher’s guide
Consider the following teaching points:
1. Multiple prior surgeries with ongoing pain:
-Is her pain a result of the prior surgeries: i.e. adhesions?
-Could multiple surgeries have been unnecessary (an attempt to treat her pain when the actual underlying cause was still unclear)?
2. Her history of depression raises the possibility of psychogenic causes of abdominal pain.
-Some causes of both depression and abdominal pain include AIP and lead toxicity.
3. Despite her age, tobacco use raises the possibility of mesenteric ischemia particularly in light of her pain “out of proportion to the exam.”
Teacher’s guide
1. Consider asking a student or trainee to guide the class through their thoughts on the labs and whether/how they help to move their diagnostic thinking forward.
2. Notable labs include:
Hyponatremia; otherwise unremarkable metabolic panel
Normal CBC
Normal LFTs
Red-brown urine with 1+ blood and minimal RBC
Pyuria
Teacher’s guide
1. Consider asking a student to interpret the KUB, and whether/how this information impacts their diagnostic thinking.
2. KUB: No evidence of intraabdominal perforation, obstruction or ileus.
Teacher’s guide:
1.Example of one-liner:
- Young woman with multiple prior abdominal surgeries with recurrent, acute, abdominal pain with negative imaging.
2.Consider an alternative way to invoke potential explanations by asking:
- What diseases cause abdominal pain with normal imaging?
3. Consider focusing on 2-3 diagnosis, and discussing the IS for each. It may be helpful to compare and contrast the IS’s and focus on key distinguishing features.
4. Consider the following approach on imaging-negative abdominal pain as a way to structure the differential diagnosis. This discussion will include structures that are poorly visualized on CT scan:
Nerves (neuropathic abdominal pain: i.e. AIP, Lead poisoning, diabetic polyradiculopathy)
Blood vessels (CT can miss mesenteric ischemia/vasculitis: i.e. Polyarteritis Nodosa)
Lumen of the GI tract (Specialized studies may be needed: i.e. MR enterography for Crohns Disease, Ulcerative Colitis etc.)
Teacher’s guide:
*The underlined illness are hyperlinked to a representative Illness Script (IS):
1. Click on the underlined diagnosis to see a sample IS (press the forward arrow to see the IS table)
2. Once the IS table is loaded; click “previous slide” to return to this overview slide
Teacher’s Guide:
1. If students/trainees are stumped, consider encouraging them to return to the history to gather more data to help them sort through diagnostic possibilities – this question can initiate a discussion of the kinds of additional historical questions which might have differentiating power; discussion of who the right consultant might be/what question could be posed to a consultant can also be helpful for students who are not sure of next steps
Teacher’s Guide:
1. Consider asking: What are your next steps?
Teacher’s Guide:
1. Note: many diagnostic tests which are positive in AIP are also positive in lead toxicity (both interrupt the heme production pathway)
- As a finer point, it may be helpful to discuss this fact, and have the trainees assume that the lead level was normal in this patient
Teacher’s guide
1. Discuss the difference between the richness of an IS for a commonly encountered disease, CAP, versus rare diseases like AIP
2. One important element of making rare diagnosis is the ability to retain key features (in bold) of less commonly encountered diseases. [See Sherlock Holmes quote on slide 18].
-For example, remembering all the medications that can trigger AIP is likely less useful than strongly committing to memory the epidemiology (Scandinavian heritage) and common symptoms (abdominal pain, autonomic disease)
Teacher’s Guide:
1. Solicit take-home points from members the group – it can be helpful to ask for take-homes in the categories of medical knowledge and in the area of clinical reasoning/problem-solving (i.e. will anything they’ve learned help them approach cases differently in the future?); also it can be helpful to start with the more junior learners and work up toward more senior trainees.
2. Given the dramatic nature of this case (young woman who has now had several likely unnecessary surgeries including a hysterectomy), may want to provide space for students/trainees to de-brief or comment on how this case in particular lands on them.
3. This can be a good time to touch on diagnostic error (unnecessary past surgeries) from the perspective of quality and safety; could consider discussion of why her abdominal pain was so difficult to diagnose, and how this fact may have led previous providers down the wrong path (i.e. providers’ discomfort when we do not have an answer, our tendency for action rather than inaction even in the face of uncertainty)
Teacher’s Guide:
For additional references related to illness scripts, please see linked Illness Script overview
The next slides contain the illness script hyperlinked from the slide 12 - “the approach to CT negative abdominal pain”
