FAI November 2024 Podcast: Outcomes of Charcot-Marie-Tooth Disease Cavovarus Surgical Reconstruction

Podcast: Foot & Ankle International
Date: November 6, 2024
Host: Mark Easley (FAI Podcast Editor)
Guests: Dr. Glenn Pfeffer (Cedars-Sinai Medical Center), Dr. Edward Haupt (Mayo Clinic, Jacksonville)

Episode Overview

This episode centers on surgical management and outcomes for Charcot-Marie-Tooth (CMT) disease patients with cavovarus foot deformity. Host Mark Easley discusses the featured FAI article with authors Dr. Glenn Pfeffer and Dr. Edward Haupt, focusing on patient-reported outcomes, surgical indications, operative technique nuances, controversy regarding surgical versus conservative management, and the evolving role of patient engagement—including through social media.

Major Discussion Points and Insights

1. Background on Charcot-Marie-Tooth Disease and Study Purpose

[02:55] Dr. Edward Haupt

• Definition and Clinical Spectrum:

  • CMT is "a family of diseases," specifically hereditary motor and sensory neuropathies with variable genetic expression.
  • Classic manifestations: intrinsic muscle wasting, contracture, muscle imbalance, cavovarus foot deformity, claw toes, gait disturbances due to foot drop and evertor paralysis.
  • Deformity and weakness can progress, leading to significant disability.

• Traditional Treatment & Rationale for Surgery:

  • Orthopedic bracing has been the historical standard. Surgery’s necessity is debated, often opposed due to the progressive genetic nature of CMT.
  • The study investigates whether surgery can improve quality of life by achieving a brace-free, stable foot.

• Study Design & Outcomes:

  • Largest CMT surgical cohort to date.
  • Measured patient-reported outcomes before and after surgery—including bilateral reconstructions.
  • Key finding: "Significant improvements in physical function and reduction in pain result from surgical treatment...with a minimum of one year follow-up."
  • Even the most severely affected patients "experienced benefit," though starting at lower baseline scores.

2. Surgical Indications, Algorithm, and Technique

[06:47] Dr. Glenn Pfeffer

• Management Objectives:

  • Create a well-balanced, plantigrade foot.
  • Achieve stable hindfoot alignment.
  • Eliminate or reduce brace dependence.

• Preoperative Evaluation:

  • Stress examination under anesthesia; focus on Achilles contracture—which must be addressed early.
  • Emphasis on releasing all soft tissue contractures before osteotomies: “It's absolutely impossible to know what to do with the bones until the soft tissues are released.”

• Technical Highlights & Pearls:

  • Extended dissection and lengthening of the posterior tibial tendon (PT) for effective tendon transfer: “This technique…adds a centimeter and a half, 2 centimeters of length to the PT, which is absolutely critical.” [09:24]
  • Prioritize soft tissue balancing, including multiple releases: talonavicular capsule, spring ligament, peroneus longus, and plantar fascia.
  • Bony work (e.g., Dwyer osteotomy) to address persistent hindfoot varus.
  • Avoidance of routine arthrodesis: "Only in extremely rare cases will I do a TN or CC fusion to hold the correction…" [12:10]
  • Tendon transfers individualized (preferring whole transfers over splits); peroneus longus is first-line unless very weak.
  • “If the peroneus longus is weak...transfer the FHL. If the FHL is too weak, I typically fuse the subtalar joint to create hindfoot stability.”
  • Correction of forefoot valgus in adults with closing wedge osteotomy; in children, opening wedge cuneiform osteotomy.

• Strategic Insight:

  • "Joints that seem fixed and irreducible preoperatively usually are not in the foot" after appropriate soft tissue release. [08:37]
  • The goal is maximizing function while minimizing invasiveness (“3/4 tightness” on tendon transfers to balance strength with range).

3. Controversies & Surgical Biases

[15:13] Dr. Glenn Pfeffer

• Patient Selection:
  • Willingness to operate on patients averse to lifelong bracing, even in absence of severe deformity.
  • “I don't think anyone with a crooked callused Cavovarus foot should live in a painful brace, although I see many neurologists that disagree and some surgeons.”
• Prefers full tendon transfers (“tendon works best when it does one thing”)—as opposed to split transfers or the bridle procedure.

4. Study Strengths and Clinical Implications

[16:58] Dr. Edward Haupt

• Evidence for Surgery:
  • “The major strength [of this study] is that there's objective evidence using patient reported outcomes that surgical treatment is beneficial to improve physical function and reduce pain.”
  • Even severely affected patients (e.g., only one muscle suitable for transfer) show measurable improvement.
  • Arthrodesis was used for muscle weakness, not just arthritis, which is “news to many people.”

5. Concerns About Regional Anesthesia in Neurologic Disease

[19:42] Dr. Glenn Pfeffer

• Many centers are hesitant to use regional blocks in CMT patients for fear of worsening neuropathy.
• “Over the years, I've had patients who've had prolonged numbness. It's worrisome. Most resolve, but not all.”
• However: “There are multiple papers…that talk about the safety and efficacy of blocks in CMT patients…we found no significant problems.”
• Postoperative regional catheter is essential for successful outpatient management.

6. Limitations: Outcome Measures and Long-term Data

[22:03] Dr. Edward Haupt, [24:43] Dr. Glenn Pfeffer

• Clinical/Radiographic Data:

  • Acknowledged lack of standardized post-op ROM and motor strength evaluations due to geographic/logistical barriers.
  • Gait analysis is “the holy grail that we're all chasing,” but was not feasible for this study.
  • Reference to Dr. Song’s study: pre- and postoperative weight-bearing CTs on a subset of patients showed near normalization of many foot measurements after surgery.

• Patient-reported outcomes: Main standardized metric; authors believe these sufficiently reflect surgical benefit for this population.

• Long-term Outcomes:

  • Referenced Iowa study (Reginald Cooper): 26-year follow-up with sustained benefits.
  • Dr. Pfeffer: “even if the disease progresses, even if they have progressive weakness, we've created a plantigrade foot which will always be more braceable.”
  • “No one in 2024 should live with a calloused, cavalierous, painful foot. We need to help these people.” [27:37]

7. Impact & Role of Social Media

[29:48] Dr. Glenn Pfeffer

• Patients feel less alone and more empowered via social media outreach.
• “It's just wonderful for patients. They feel less alone…patients, people with CMT, they're direct messaging me all the time and I spend an hour, hour and a half every Sunday talking to them on the phone, whether they can come here to Cedars or not.”
• Encouraged by the CMT Association and Hereditary Neuropathy Foundation to increase outreach and share patient stories.

Notable Quotes & Memorable Moments

• Dr. Haupt (on surgery’s role):

  “Significant improvements in physical function and reduction in pain result from surgical treatment in patients with CMT...” [04:15]

• Dr. Pfeffer (on key surgical principles):

  “The most important surgical principle is to release all the soft tissue contractures before any osteotomies are done. It's absolutely impossible to know what to do with the bones until the soft tissues are released.” [08:06]

• Dr. Pfeffer (on patient advocacy):

  “No one...should live with a calloused, cavalierous, painful foot. We need to help these people.” [27:37]

• Dr. Pfeffer (on social media):

  “It's just wonderful for patients...They feel less alone. ...Many of them [patients who reach out] do [seek care]. Otherwise they’d be living with their continued symptoms and pain.” [30:16]

Timestamps for Key Segments

• Episode & Guest Introduction: [00:00–02:55]
• CMT Overview & Study Summary (Haupt): [02:55–05:25]
• Surgical Indications & Technical Details (Pfeffer): [06:47–14:30]
• Controlling Surgeon Bias & Patient Selection (Pfeffer): [15:13–16:08]
• Major Study Strengths and Clinical Implications (Haupt): [16:58–18:38]
• Regional Anesthesia Concerns (Pfeffer): [19:42–21:20]
• Discussion on Study Limitations, Radiographic, & Gait Analysis (Haupt, Pfeffer): [22:03–25:28]
• Long-Term Outcomes & Literature Perspective (Pfeffer): [26:23–27:48]
• Final Thoughts, Social Media Impact (Pfeffer): [29:48–30:59]

Closing Thoughts

The episode underscores a paradigm shift in managing CMT cavovarus deformity from bracing alone to proactive, algorithm-driven reconstruction with proven physical and quality-of-life benefits. It highlights overcoming longstanding skepticism about surgery’s value, the importance of informed and compassionate patient selection, and the empowering effect of both rigorous patient-reported data and direct patient engagement (including social media).

The surgical community is encouraged to reconsider assumptions, apply structured algorithms, and leverage both outcome data and shared patient experiences to optimize care for this challenging population.