Achondroplasia and the ICU, a combination fraught with ERROR

You are working a typical night shift in the MICU when you hear word of a patient coming up from the ED who is impending respiratory distress. All you know is that she is a renal failure patient who has recently missed dialysis. She also had a fever on arrival that was thought to be due to a pneumonia, so broad spectrum antibiotics were started. Finally, the ED attending mentions that she has achondroplasia and “has all the typically associated characteristics affecting her airway and breathing“…..

You hang up the phone and focus on that statement. What characteristics is he speaking of?

  • Achondroplasia is the most frequent cause of dwarfism
    • Population incidence: 0.5-1.5:10,000, with 80% due to spontaneous mutations
  • A disorder of fibroblast growth factors learning to: inhibition of cartilage production and premature ossification of cartilage leading to:
    1. Relatively large head
    2. midfacial hypoplasia
    3. spine deformations: severe scoliosis and rib cage deformities
    4. leg axis deviation
    5. “trident hand” 
  • Compared to general population:
    • 8X risk for obesity and OSA
    • 10X risk of CV disease (max btw 25-35yo)
    • Difficult IV access (10-50%)

You hear overhead that she has arrived on the unit. You do a quick search of the eMAR and realize she has never been to your hospital before. You manage to intercept her chart from the transport team and scan through the folder looking for any information about her. Unfortunately you find only nursing notes and a very brief cover sheet from EMS. As you prepare to go back to her room you hear that she is already in acute distress. You stop briefly to gather your gear for her immediate medical care, including airway supplies, and rush off to her bedside.

Based on what you know about her disease, what should you be prepared for?

1) Certain medical anomalies are pathognomonic:

  • Chronic infections: Otitis media, chronic respiratory infections (hypoglossal canal stenosis)
  • Severe scoliosis/rib cage deformities: Restrictive lung disease
  • Neurological symptoms: hydrocephalus, cervicomedullary compression, spinal canal stenosis
  • Cardiopulmonary problems: pulmonary hypertension, cor pulmonale, CAD

2) Additionally, It is imperative to also be prepared for a very difficult airway!

  • Difficulties with BVM: midface hypoplasia, large tongue, pronounced adenoid vegatations
  • Limited atlanto-occipital jt flexibility complicates intubation
  • Foramen magnum stenosis and cervical instability can also lead to medullary compression!!

Preferred method: Awake, fiberoptic intubation with an ETT chosen based on wt (not age)

3) Finally, shortened extremities, laxity and excess of skin as well as flexion deformities can complicate venous access, it is recommended to seek central access EARLY (femoral in an emergency due to a shortened neck)

References

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