2 Difficult Cases to Swallow

A fairly frequent presentation to the ED is that of difficulty swallowing. By true definition this is “dysphagia” although commonly physicians and physicians-in-training use this word interchangeably with “odynophagia” (painful swallowing). Here are two interesting and unusual cases of dysphagia seen in the ED.

Case #1:

A healthy man is his early 30’s presented to the ED with a complaint of dysphagia. Initially his symptoms were limited to significant heartburn, sour taste and occasional heartburn. A trial of a PPI gave no relief. He re-presented to his primary physician and was referred to a gastroenterologist. That appointment was 6 weeks away. When he presented to the ED, he described the dysphagia as a sensation of solids and now liquids feeling stuck in his restrosternal area – a description consistent with of transport dysphagia. He was now regurgitating every meal within seconds of ingesting food, and had an estimated weight loss of 30 lbs over a total of 6-8 weeks. Occasionally, he felt short of breath when supine.

On exam, he looks well although clearly has lost weight recently. Vitals were all within normal limits. He did appear anxious around the uncertainty of his condition. HEENT exam was completely normal, as were CVS and Resp. His abdomen was soft, nontender and free of palpable masses.

What’s your provisional diagnosis?

What are the red flags here?

A set of basic labs were sent, including CBC, lytes, liver and renal function. The ECG and CXR were normal.

Given the rapid progression of his illness it was felt that outpatient follow up weeks away was inappropriate. GI was consulted to consider urgent scope for a provisional diagnosis of ACHALASIA.

Indeed he was seen and scoped the next day. There were no suspicious masses, and distal portion of the esophagus was dilated. Biopsies were normal. A barium swallow done shortly thereafter showed the following:

   

Report: "The esophagus is dilated…. a high grade stricture seen in the distal thoracic esophagus at the GE junction… there is definitely significantly delayed passage of contrast… is consistent with a clinical history of achalasia."

A bit on achalasia: (References - Tintinalli 7th Edand Emedicine Review)

• A dysmotility disorder of unknown cause characterized by transport dysphagia
• Thought to be secondary to impaired neurotransmitter release and subsequent hypertonicity of the lower esophageal sphincter +/- impaired peristalsis
• Onset usually between 20-40 years
• Symptoms: dysphagia, odynophagia, wt loss, chest pain, regurgitation
• Often initially misdiagnosed as GERD
• In severe cases, dilated/impacted esophagus can cause airway compromise
• Workup – CXR may show dilated esophagus; often scoped to rule out mass followed by barium swallow and manometry
• Treatment – CCB meds, pneumatic dilatation, botox injections, surgery

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Case #2:

A woman in her 70’s with a history of T2DM and HTN presented to the ED with a chief complaint of dysphagia. She came to the ED accompanied by family with a list of investigations done over the past 4 months: normal upper endoscopy, normal CT scan, normal abdominal ultrasound. Four months into her symptom onset, she says the dysphagia is worse. Upon careful questioning, the patient reports difficulty getting chewed food into her esophagus, initially with solids and now with solids and liquids. She is describing transfer dysphagia. Further history obtained reveals that patient is feeling more generally weak with time and now has become bothered by her inability to keep her eyes open. Her vocal quality has also changed, and seems to change over the course of the day.

On exam, she appears well. There is obvious bilateral ptosis that is fatiguable. Her has a nasal dysphonic quality to her voice. Her neck is slumped a little forward in flexion. You ask to see her teeth and what you see is a sneer. The remainder of her exam is non-contributory.

Have you got the diagnosis?

On the provisional diagnosis of new onset Myasthenia Gravis, anti-AChR and Anti-MusK antibodies were ordered and medicine consulted. She was admitted to hospital, and in fact was given a test dose of neostigmine while still in the ED. Her eyes opened up. A few days later, after being started on pyridostigmine (Mestinon), repetitive nerve stimulation and single-fibre EMG confirmed the diagnosis.

Image from http://www.myasthenia.org.au/html/symptoms.htm

A bit on Myasthenia Gravis:

• A neuromuscular disorder caused by autoimmune destruction of the NMJ/endplate
• Major forms: ocular and generalized
• Most commonly due to antibodies to ACh receptor
• Weakness: ocular (diplopia, ptosis)/facial (sneering)/bulbar muscles (dysphonia, dysphagia) then proximal truncal muscles; progressively worse over course of day
• May be exacerbated by new meds, stress, concurrent illness
• Occasionally presents initially as a myasthenic crisis in severe respiratory distress due to weak respiratory muscles
• DDx includes botulism, ALS, Lambert-Eaton syndrome and polymyositis
• Diagnosis: Anti-AchR, anti-MuSK; EMG/nerve stimulation, acetylcholinesterase test, ice test
• Treatment: anticholinesterases, immune suppression with cortisteroids (eg Prednisone) and/or azathioprine, IVIG/plasmapheresis; for some, thymectomy.
• Myasthenic crises often require intubation and ventilatory support.

Here's a video from Youtube demonstrating fatigability of the ocular muscles:

 

I planned on summarizing the excellent JAMA article from 2005 “Does this patient have myasthenia gravis?” but the brilliant folks at the NNT (www.thennt.com) did this just recently, so here’s the link: http://www.thennt.com/lr/myasthenia-gravis/

Bottom line from the JAMA article:

• The symptoms/signs with a strong +ve LR are: unintelligible speech after prolonged speaking; +ve sleep test, ice test or acetylcholinesterase tests
• Signs with a strong –ve LR are: -ve results on sleep test, ice test or acetylcholinesterase tests

Additional learning points on dysphagia (generally derived from Tintinalli 7^th Ed - Ch 80):

• The most useful information from evaluating a patient with dysphagia is the history, history, history
• Determine if a patient has transfer dysphagia (cannot move food bolus into esophagus) or transport dysphagia (food bolus feels “stuck in esophagus”)
• The majority of transfer dysphagia is neuromuscular
• Most transport dysphagia is obstructive (eg tumour), leaving the remainder mostly motor (eg achalasia)
• Look for red flags (eg weight loss) and do a good neurologic exam

References:

1. Emedicine review of Achalasia. http://emedicine.medscape.com/article/169974-overview
2. Miyamoto et al. (2011) Acute airway obstruction in a patient with achalasia. Intern Med. 50(20):2333-6 http://www.ncbi.nlm.nih.gov/pubmed/22001460
3. Emedicine review of Myasthenia Gravis: http://emedicine.medscape.com/article/1171206-overview
4. Scherer K et al. (2005) Does this patient have myasthenia gravis? JAMA. 293(15):1906-14. http://jama.jamanetwork.com/article.aspx?articleid=200737
5. The NNT’s breakdown of the above study: http://www.thennt.com/lr/myasthenia-gravis/
6. Tintinalli’s Emergency Medicine 7^th Ed. Chapter 80. Esophageal emergencies, gastroesophageal reflux disease and swallowed foreign bodies.