illness script case teaching guide

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.

http://creativecommons.org/licenses/by-nc-sa/4.0/



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



Illness Scripts

• Clinical characteristics contained in illness scripts often include:

‣ Time course‣ Characteristic Symptoms/Signs‣ Typical Clinical Course‣ Diagnostics‣ Treatment



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



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.



Outline your illness scripts for your top three diagnoses

Pause

Pathophysiology

Epidemiology

Symptoms/Signs

Diagnostics

Treatment



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



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



Pause

How does this information change your differential diagnosis?



Labs

132 102 22

0.9234.3

13

1647.910239

ALT 23AST 18Alk Phos 60PT 11.4Tbili 0.4

Protein 7.5Albumin 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



Imaging



Imaging

CT abdomen/pelvis with contrast

Surgically absent gallbladder, appendix, and uterus; otherwise normal.



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



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



Pause

What would you do next?



More Information

• Father was of Finnish descent

• Urine in collection bag was reddish-brown



Diagnostic Test Was Performed

Urine porphobilinogen

184 mg/L (normal: 0-4 mg/L)



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



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



Your Take-Homes?



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



• 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




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



Crohn’s Disease

Previous Slide

Pathophysiology

Epidemiology

Symptoms/Signs

Diagnostics

Treatment

Granulomatous transmural inflammatory disorder of the GI tract

Bimodal; peaks distribution: 20-40, 50-60Family history

Episodic abdominal pain, diarrhea, extra-intestinal manifestations

Colonoscopy: Skip lesionsPath: Inflammation. Granulomas in 30%

Immunosuppression



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



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



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


illness script case teaching guide

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