Er Episode Watch Again Abdominal Pain
J Gen Intern Med. 2014 Jul; 29(7): 1074–1078.
A 22-Year-Old Woman with Intestinal Pain
Benjamin Jones, Doctor, Walter A. Brzezinski, Doctor, Carlos A. Estrada, Md, MS, Martin Rodriguez, Physician, and Ryan R. Kraemer, Dr. 
Benjamin Jones
Tinsley Harrison Internal Medicine Residency Program, The University of Alabama at Birmingham, Birmingham, AL The states
Walter A. Brzezinski
Medical University of South Carolina, Charleston, SC USA
Carlos A. Estrada
Partitioning of General Internal Medicine, The University of Alabama at Birmingham, 720 Faculty Office Tower 510 20th Street South, Birmingham, AL 35294-3407 USA
Birmingham Veterans Affairs Medical Center, Birmingham, AL USA
Veterans Affairs National Quality Scholars Program, Birmingham, AL USA
Martin Rodriguez
University of Alabama at Birmingham, Birmingham, AL United states
Ryan R. Kraemer
Division of Full general Internal Medicine, The University of Alabama at Birmingham, 720 Kinesthesia Office Belfry 510 20th Street Southward, Birmingham, AL 35294-3407 USA
Birmingham Veterans Diplomacy Medical Center, Birmingham, AL USA
Received 2013 Aug 30; Revised 2013 November 19; Accepted 2013 Dec 10.
KEY WORDS: clinical reasoning, illness script, expert clinician, acute intermittent porphyria, intestinal pain
In this series, a clinician extemporaneously discusses the diagnostic arroyo (regular text) to sequentially presented clinical information (bold). Additional commentary on the diagnostic reasoning process (italics) is integrated throughout the word.
Clinical Information
A 22-year-sometime woman presents to the emergency section with abdominal hurting for the last 48 h. Her pain is diffuse in location, aching in nature, 9/10 in severity, and does non localize. She has no clear aggravating or alleviating factors.
Clinician
The importance of understanding the reason for presentation cannot be overstated, as the patient's primary complaint is oftentimes critical to determining the final diagnosis. In a immature woman with abdominal pain, common maladies must be considered first: cholecystitis, appendicitis, and gynecologic sources—including complications of pregnancy. The young age of the patient effectively excludes diagnoses ordinarily seen in an older population, such as ischemic bowel, diverticulitis, and bowel obstruction.
Diagnostic Reasoning
Skillful clinicians commencement collecting important information every bit soon equally the patient come across begins. Clinicians compare the data obtained about their patient to their illness scripts for various disorders. Illness scripts are collections of information, such as characteristic symptoms, epidemiologic factors, risk factors, exam findings, or test results that summarize a clinician'southward knowledge well-nigh a disorder—similar a small-scale chapter about a disorder. ane Clinicians create a differential diagnosis past including disorders that lucifer the patient presentation and excluding disorders that exercise not.
While this mental exercise is helpful to exclude some diagnoses, clinicians should go on in mind that patients "don't always read the textbook" and atypical presentations can be seen. Another possibility is that the clinician's illness script may be incomplete (for example, due to lack of experience) or may even be inaccurate (for example, caring for unique patient populations). Even though information technology is highly unlikely that the described patient volition have diseases commonly seen in older adults, occasionally younger patients can nowadays with these disorders (i.e. young man with ischemic bowel later using a vasoactive substance such as cocaine). It is helpful to continue to reevaluate the diagnostic possibilities as new data becomes available, and sometimes that includes reconsidering possibilities that we initially thought were highly unlikely.
Clinical Information
She was diagnosed with major depressive disorder 3 years prior and takes no medications. In the past 2 years, she reports recurrent episodes of astringent abdominal pain. Elsewhere, she has undergone cholecystectomy, appendectomy, and total intestinal hysterectomy (without salping-oophorectomy); all in an attempt to localize and eliminate her recurrent intestinal pain (records and pathological diagnosis were not available). She had unproblematic cystitis i week prior and is now completing a grade of trimethoprim-sulfamethoxazole. She takes no other medications, herbal supplements, or over-the-counter medications. She has received analgesics and opioid medications from multiple providers for the past 3 years.
Clinician
Although she may non get regular medical care, information technology seems that this patient has interfaced with the healthcare organization oft over a relatively short period of fourth dimension. Her pain is significant enough to require opioids, just she does non have a articulate diagnosis. The history of cryptic abdominal pain leading to multiple surgeries in a young patient may fit the illness script of acute intermittent porphyria or familial Mediterranean fever. Nevertheless, both are rare disorders, and nosotros should not spring to these entities without more information and without considering more common illnesses. Given her history of mood disorder, ane may also consider somatoform disorder, or other illnesses with psychiatric overtones. It is as well important to consider domestic corruption in a immature woman with non-specific complaints who recurrently presents to the emergency department.
Diagnostic Reasoning
Sir Arthur Conan Doyle'southward fictional detective Sherlock Holmes compared the human brain to an attic. He described the brain as a location where we proceed information that we have learned in the past and may employ in the futurity. 2 Since in that location is a finite corporeality of space in our "encephalon attic," we must determine what information to keep and what to discard. While in schoolhouse, postgraduate grooming, and as well in everyday practice, nosotros learn or hear about a myriad of atmospheric condition. Some are common and we develop robust illness scripts for these atmospheric condition. Many are uncommon and without frequent employ, our illness scripts of these diseases dwindle with time.
The clinician is able to recognize a pattern of symptoms and pieces of data that may be consistent with 2 uncommon diseases, familial Mediterranean fever and acute intermittent porphyria. The clinician likely has limited experience with these disorders, but he used the information available in his brain attic and compared the affliction scripts he remembers for these two conditions with the data that is being presented about this patient. Fifty-fifty when he recognizes that the presentation may exist consistent with these diagnoses, he takes a footstep back and analyzes the probability of seeing these disorders. He recognizes that he is more likely to encounter a common disorder or an uncommon presentation of a mutual disorder than 1 of these rare illnesses.
The clinician mentions several diagnostic possibilities, but does not mention others. Inflammatory bowel disease, irritable bowel syndrome, serositis, vasculitis, and recurrent partial bowel obstructions induced past adhesions from previous surgeries are a few other diagnostic possibilities. The clinician seems to be waiting for more than information instead of generating a more comprehensive differential diagnosis.
Clinical Data
She lives with her boyfriend and has been in a monogamous relationship for 3 years. She is unemployed, has one–2 alcoholic beverages weekly, and has smoked a half pack of cigarettes per day for the last vii years. She reports no illicit drug use. She achieved menarche at age 13, has never been pregnant, and has never been treated for a sexually transmitted infection. As she is adopted, her family history is unknown. On review of systems, she has had no menses or vaginal complaints since her hysterectomy. She reports decreased appetite during episodes of abdominal pain and nausea without vomiting. She denies fever, chills, diarrhea, or other systemic symptoms.
On physical test, her blood pressure level was 112/76 mmHg, heart rate was 114 beats per minute, respiratory rate was 16 breaths per minute, and her temperature was 98.4 °F (36.8° Celsius). She was in moderate distress due to abdominal pain. Her abdomen was soft and non-distended, simply moderately tender throughout. She had no succussion splash. Bowel sounds were present but hypoactive. No rebound tenderness or guarding was nowadays. Scars from the hysterectomy (transverse incision) and laparoscopic interventions were well healed.
Clinician
The clarification of bowel sounds every bit hypoactive is generally unhelpful, since the frequency and volume of bowel sounds may be a function of when the patient terminal ate. More helpful is the distinction between bowel sounds that are absent versus aberrant bowel sounds (e.g. tinkles and rushes). Absent-minded bowel sounds may imply ileus, constipation, or bowel rupture. Abnormal sounds may imply intestinal obstruction, colitis, or irritable bowel syndrome.
Diagnostic Reasoning
Agreement the significance of physical exam findings can exist challenging, since many of the maneuvers or findings accept limited sensitivity and specificity. Here the clinician tries to put into context which findings are more likely to be helpful in determining the diagnosis in this patient.
Clinical Information
Initial laboratory values include sodium 132 mmol/L, potassium 4.3 mmol/L, chloride 102 mmol/Fifty, bicarbonate 23 mmol/50, urea nitrogen 22 mg/dL, creatinine 0.9 mg/dL. White Blood Count 7,900 cells/cm, hemoglobin 13 g/dL, platelets 164,000 per cm.
Total protein vii.five g/dL, albumin 3.9 k/dL, total bilirubin 0.4 mg/dL, aspartate aminotransferase 18 /L, alanine aminotransferase 23
/50, alkaline phosphatase lx
/L. The prothrombin and activated partial thromboplastin times were within normal limits. Amylase, lipase, and lactic acrid were within normal limits. Urinalysis: specific gravity i.030, pH 6.5, 1+ claret, 1+ leukocyte esterase, 1+ nitrite, 10-twenty WBC per HPF, 0-ii RBC per HPF, trace leaner.
An upright abdominal x-ray showed a normal bowel gas pattern. A contrast-enhanced computed tomographic exam of the abdomen and pelvis showed no acute procedure (gallbladder, appendix, and uterus were absent-minded).
Clinician
The initial laboratory results appear fairly nonspecific. A young adult female with serum sodium of 132 mmol/L is unusual, but the significance in this patient is unclear. Her urine appears full-bodied and urinalysis is consistent with possible urinary tract infection, for which she is in the midst of treatment.
Infection may be less likely, given her normal white claret prison cell count. While nosotros would ideally like to make a diagnosis based on history, concrete exam and laboratory assay, often imaging is necessary. Hither, the imaging is also nonspecific, which should alert the states that perhaps boosted evaluation and testing may exist needed.
Chronic adrenal insufficiency tin often nowadays with singular abdominal hurting and hyponatremia, although typically with hyperkalemia and hypoglycemia, which are not seen here. Astute intermittent porphyria remains high on the differential, given patient's demographics, intestinal pain, and lack of specific laboratory or radiographic findings. At this point, I might review the medications that traditionally precipitate porphyric attacks to come across if trimethoprim/ sulfamethoxazole is on that list. I mention trimethoprim/ sulfamethoxazole because she was simply recently taking this medication for a presumed urinary tract infection (UTI). With rare disorders, I always recommend reviewing lists of medications that may cause relapse, as about providers do non see these disorders often enough to remember all of them.
Diagnostic Reasoning
The clinician recognizes some mild abnormalities in the claret tests and urinalysis, yet is not ready to make a diagnosis based on this data since the presentation is not explained by these findings. Although it could be tempting to diagnose this patient with a UTI, the clinician recognizes that the patient's electric current symptoms are not consistent with his illness script for a UTI. The nonspecific imaging findings alert him to move from common illness scripts to a more than rare set of disorders. He realizes that further specialized testing will likely be needed to make the diagnosis. He uses the low sodium as an boosted clue that may assistance in the diagnostic evaluation, and includes adrenal insufficiency every bit an boosted diagnostic possibility.
He goes dorsum to his brain attic and contrasts the available information (symptoms, multiple surgeries for recurrent abdominal pain, nonspecific findings on exam and routine tests), with the disease script he has for acute intermittent porphyria. He remembers that at that place are medications that can precipitate a crunch. Because he does not frequently see patients with acute intermittent porphyria, he does not remember the list of medications that can cause a crisis. That would occupy besides much space in his brain attic—space that could be used to tape other key information on many other disorders or other useful information that is pertinent for his work or life; even so, he does retrieve that there is a listing of medications and appropriately asks for that data.
Clinical Information
Due to the severity of her unrelenting abdominal pain, she was hospitalized. A urinary catheter was inserted. Given the extensive workup and surgeries without elimination of her symptoms, the clinician caring for this patient revisited her room after the initial encounter. The urine in the collecting bag appeared crimson-brown. Upon farther questioning, the patient is aware her father is a kickoff-generation Finnish immigrant, but does not know any further family unit history.
Clinician
We did something wrong, merely it gave usa the right reply. Placing a urinary catheter in this patient was probably inappropriate. A simple UTI is not a reason for a catheter and could very well have made things worse. If she did not have a UTI, placing a Foley might cause i. Even so, it did give a great clue in solving this mystery. At this point, the differential diagnosis is broad and includes somatoform disorder, domestic abuse, Addison's disease, and acute intermittent porphyria (AIP). The discolored urine and northern European heritage necessitate that we rule out AIP.
Diagnostic Reasoning
The suspicion of acute intermittent porphyria as the underlying diagnosis is now even higher; nevertheless, the clinician accordingly keeps a cautious approach to this diagnosis. He recognizes the patient's discolored urine and northern European heritage are consistent with AIP, only he avoids premature closure by keeping other disorders on his differential diagnosis.
Clinical Information
Her loftier levels of urine porphobilinogen (184 mg/Fifty; normal 0-4 mg/Fifty) confirmed the diagnosis of an astute porphyria. She received hemin with complete resolution of her symptoms. Iv months afterward the initial presentation, she was doing well without further attacks of abdominal pain. Although confirmatory testing was non performed, AIP is the virtually likely final diagnosis, given the patient'southward heritage and the increased prevalence of AIP compared to the other astute porphyrias (variegate porphyria and hereditary coproporphyria).
Discussion
Medicine is a discipline of lifelong learning. As clinicians, nosotros are exposed to massive amounts of information, some old and some new. The number of existing medical disorders and the complexities of the evaluation, diagnosis, and management of these illnesses, threatens our ability to go along upward with knowledge even in our areas of expertise.3
Over the years, from our educational and clinical experiences, we develop disease scripts: descriptions of symptoms, take a chance factors and epidemiology, exam findings, and test abnormalities that give us a summary of a disease presentation. Our illness scripts evolve over time, existence modified as we learn new things about a disease (east.g. singular presentations, new risk factors, new tests).4 For obvious reasons, the affliction scripts nosotros have for mutual disorders in our areas of practice will include much more information than those for illnesses we do non routinely see. Since our brains have a finite corporeality of storage space, nosotros cannot proceed complete illness scripts well-nigh all diseases we encounter.5
However, clinicians who are experts in diagnosing challenging cases will often accept a brain cranium that keeps information on the affliction scripts of a large number of entities.6 The amount of data for each affliction may not be exhaustive, but often includes key pieces of data that tin help suggest a diagnostic possibility. For example, key pieces of information about AIP might include young person, recurrent abdominal hurting, nondiagnostic laparotomies, hyponatremia, night urine, and attacks that can be triggered by medications. The clinician does not need to be an proficient in this area, but having plenty data in his brain attic to suggest this diagnosis can trigger further reading and appropriate consultation with a specialist or further testing. With uncommon disorders many times patients remain undiagnosed for long periods of fourth dimension until the disease "self-declares" with worsening symptoms, or until a clinician recognizes that some of the features could be explained by a rare disorder after comparing with an illness script he/she may have heard near years ago.
The concept of a brain attic is extensively discussed in the volume "Mastermind: how to think similar Sherlock Holmes" by Maria Konnikova.vii The author makes the bespeak that Sherlock Holmes maintains a brain cranium full of well-organized and helpful pieces of information that he utilizes when solving cases; however he does not apply valuable space in this attic to record information that he finds not useful in his investigations. In "A Study in Carmine" Holmes tells Watson:
"I consider that a man's brain originally is like a little empty attic, and y'all have to stock it with such piece of furniture every bit you cull. A fool takes in all the lumber of every sort that he comes across, so that the noesis which might be useful to him gets crowded out, or at best is jumbled up with a lot of other things, so that he has a difficulty in laying his easily upon it. At present the skillful workman is very careful indeed as to what he takes into his brain-attic"2
A hallmark of the chief diagnostician is familiarity with a large number of disorders, simply extensive noesis most every medical disorder is not possible or practical. These minutiae would clutter our brain attics and make useful information less easily retrievable. Instead, clinicians should develop detailed affliction scripts for common conditions in their practice and maintain small-scale illness scripts for disorders that, although uncommon, may withal exist encountered in their scope of exercise—keeping this information in their brain attics for time to come utilize. A well-organized illness-script repertoire can allow a clinician to brand a diagnosis that has gone unrecognized past others—a true authentication of the master diagnostician.
Clinical Educational activity Points
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Eight enzymes catalyze the conversion of glycine and succinyl-CoA to heme in humans. A deficiency or inhibition in any of these enzymes leads to systemic syndromes called porphyrias which manifest with either acute neurovisceral attacks, pare lesions, or both. Acute neurovisceral attacks are caused primarily past three porphyrias: acute intermittent porphyria, variegate porphyria and hereditary coproporphyria.8
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Attacks of acute porphyria normally cause severe abdominal pain. Other manifestations include: psychiatric symptoms ranging from depressed mood to frank psychosis; nausea, airsickness, and constipation; dark urine; and signs of increased sympathetic action, including tachycardia, sweating, and hypertension.viii Autonomic instability secondary to neurotoxic injury results in up to thirty % bloodshed of each attack that requires hospitalization, making early on recognition and diagnosis critical.9
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Acute intermittent porphyria is the most common porphyria in adults and results from a deficiency in porphobilinogen deaminase, the third enzyme in the heme biosynthesis cascade. AIP classically presents in immature women of Scandinavian or northern European descent. During times of increased heme synthesis, the biosynthetic pathway may bottle-cervix at the third enzyme, resulting in accumulation of both porphobilinogen and aminolevulinic acid. These heme precursors induce axonal injury to visceral nerves, leading to the characteristic abdominal hurting and autonomic instability seen in an AIP set on. Attacks tin be precipitated by systemic hypoglycemia or medications (glucocorticoids, sulfa drugs, anti-epileptics).10
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The goal of acute porphyria management is reversing the heme biosynthesis pathway past downregulating ALA-synthase. Since hypoglycemia induces ALA-synthase, large doses of IV dextrose (300–500 yard per day) accept been used. More than recently, a heme analog, hemin, has been adult to replete the regulatory heme pool and thereby downregulate ALA-synthase. The standard dose for Iv hemin is 3-4 mg/kg per day, given for three–iv days. The loftier bloodshed charge per unit in the astute setting necessitates immediate handling, but long-term sequelae of untreated AIP can include chronic kidney affliction, hypertension, and hepatocellular carcinoma.ten
Acknowledgements
Contributor
Dr. Yvette Cua-Ramirez for providing the video of the live session.
Prior Presentations
The case presented here was presented as a Clinical Vignette Unknown at the Southern Social club of General Internal Medicine, New Orleans, 21–23 February 2013. The clinical information and example discussion closely reverberate the topics discussed.
Conflict of Involvement
The authors declare that they exercise not have a conflict of interest.
Disclosures
The opinions expressed in this article are those of the authors alone and do not reflect the views of the Department of Veterans Diplomacy.
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Articles from Journal of General Internal Medicine are provided hither courtesy of Social club of General Internal Medicine
Source: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4061356/
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