Medical Mystery Solved — A Swell Diagnosis | NEJM

Summary

A 19-year-old patient presents with recurrent episodes of severe abdominal pain, initially puzzling to doctors. After extensive testing and negative results for common conditions like appendicitis, pancreatitis, and inflammatory bowel disease, the case points toward a rare diagnosis: hereditary angioedema. This condition, marked by swelling and inflammation due to a deficiency in C1 esterase inhibitor, causes episodic pain. Ultimately, a combination of imaging, lab tests, and the patient's family history leads to the diagnosis, and after treatment with danazol, the patient’s symptoms resolve. This case highlights the complexities of diagnosing rare diseases with atypical symptoms.

Takeaways

• 😀 Abdominal pain is a common complaint with a broad differential diagnosis, making it challenging to identify the cause in many cases.
• 😀 A 19-year-old male presented to the emergency department with sudden, severe, diffuse abdominal pain, without fever or diarrhea, and vomiting clear fluid.
• 😀 The differential diagnosis for acute abdominal pain includes conditions like appendicitis, pancreatitis, nephrolithiasis, and bowel obstruction, among others.
• 😀 The patient’s medical history, including a similar previous episode of abdominal pain, helped rule out several conditions, including infectious gastroenteritis.
• 😀 Negative physical exam findings such as absence of McBurney’s sign and Carnett’s sign decreased the likelihood of appendicitis and abdominal wall pathologies.
• 😀 Normal lab results (CBC, liver enzymes, lipase, and CRP) ruled out common conditions like pancreatic diseases, infection, and autoimmune disorders.
• 😀 Despite normal test results, the patient continued experiencing recurrent, episodic abdominal pain over several years, often with temporary inability to defecate post-attack.
• 😀 Rare diseases such as familial Mediterranean fever, acute intermittent porphyria, and mastocytosis were considered but ruled out based on the patient’s symptoms and test results.
• 😀 Multiple gastrointestinal endoscopies, colonoscopies, and imaging tests (MRCP, abdominal ultrasound, CT) were performed, all showing normal results and excluding conditions like IBD, celiac disease, and parasites.
• 😀 A CT scan revealing circumferential wall thickening of the jejunum and a family history of recurrent abdominal pain pointed towards a diagnosis of hereditary angioedema (HAE).
• 😀 Hereditary angioedema was confirmed with low C4 complement and C1 esterase inhibitor activity levels, and the patient responded well to treatment with danazol, a prophylactic therapy.

Q & A

What is the main medical challenge illustrated in this case?

The main challenge is diagnosing the cause of severe, recurrent abdominal pain with a broad differential diagnosis, requiring extensive tests and evaluations.

What are some common causes of acute abdominal pain that the physician considered in this case?

Common causes included appendicitis, pancreatitis, peptic ulcer disease, nephrolithiasis, bowel obstruction, perforation, ischemia, and myocardial infarction.

Why were myocardial infarction and bowel ischemia ruled out in this case?

They were considered unlikely due to the patient's young age and absence of risk factors such as anabolic steroid or cocaine use.

What signs and symptoms led to the consideration of a diagnosis of irritable bowel syndrome (IBS)?

The patient experienced recurrent abdominal pain, sometimes associated with temporary inability to defecate, suggesting dysmotility, which could indicate IBS.

What diagnostic tests were performed to rule out common gastrointestinal conditions?

Tests included a complete blood count, basic metabolic panel, lipase, liver enzymes, thyroid-stimulating hormone (TSH), CRP levels, erythrocyte sedimentation rate (ESR), urinalysis, upper gastrointestinal endoscopies, colonoscopies, and MRCP.

Why were tests for celiac disease and eosinophilic gastroenteritis ruled out?

Celiac disease was ruled out due to normal intestinal biopsies with no villous atrophy, and eosinophilic gastroenteritis was excluded due to normal eosinophil levels.

What condition was suspected after the patient’s recurring symptoms and a CT scan showing abnormal findings?

Hereditary angioedema was suspected after the CT scan showed circumferential wall thickening of the proximal jejunum, along with the patient's family history of similar symptoms.

How did the patient’s family history contribute to the diagnosis?

The patient’s family history of recurrent episodes of abdominal pain, particularly in an uncle, raised suspicion for hereditary angioedema.

What were the key laboratory findings that led to the diagnosis of hereditary angioedema?

Key findings included low C4 complement levels and low C1 esterase inhibitor activity, which are consistent with hereditary angioedema.

What treatments were used to manage the patient's condition after the diagnosis of hereditary angioedema?

The patient was treated with danazol, an attenuated androgen, for prophylaxis and to manage acute attacks. Other treatments, such as C1 esterase inhibitors, were considered but not used due to cost.