What Are the Risks and Functional Outcomes Associated With Bilateral Humeral Lengthening Using a Monolateral External Fixator in Patients With Achondroplasia?

Background: Many patients with achondroplasia experience functional impairments because of rhizomelic upper extremities (proximal limb shortening). Bilateral humeral lengthening may overcome these functional limitations, but it is associated with several risks, such as radial nerve palsy and insufficient bone regeneration. Only a few studies have reported on patient satisfaction and functional outcome after humeral lengthening in patients with achondroplasia. Furthermore, the reported numbers of adverse events associated with lengthening procedures using external fixators vary widely.

Questions/purposes: (1) Does bilateral humeral lengthening with a monolateral external fixator in patients with achondroplasia reliably improve patient function and autonomy, and what proportion of patients achieved at least 8 cm of humeral lengthening? (2) What adverse events occur after bilateral humeral lengthening with monolateral external fixators?

Methods: Between 2011 and 2019, 44 patients underwent humeral lengthening at our institution. Humeral lengthening was performed in patients with severe shortening of the upper extremities and functional impairments. In humeri in which intramedullary devices were not applicable, lengthening was performed with monolateral external fixators in 40 patients. Eight patients were excluded because they underwent unilateral lengthening for etiologies other than achondroplasia, and another four patients did not fulfill the minimum study follow-up period of 2 years, leaving 28 patients with bilateral humeral lengthening to treat achondroplasia available for analysis in this retrospective study. The patients had a median (interquartile range) age of 8 years (8 to 10), and 50% (14 of 28) were girls. The median follow-up time was 6 years (4 to 8). The median humeral lengthening was 9 cm (9 to 10) with a median elongation of 73% (67% to 78%) from an initial median length of 12 cm (11 to 13). To determine whether this treatment reliably improved patient function and autonomy, surgeons retrospectively evaluated patient charts. An unvalidated retrospective patient-reported outcome measure questionnaire consisting of nine items (with answers of "yes" or "no" or a 5-point Likert scale) was administered to assess the patient's functional improvement in activities of daily living, physical appearance, and overall satisfaction, such that 45 points was the highest possible score. The radiographic outcome was assessed on calibrated radiographs of the humerus. To ascertain the proportion of adverse events, study surgeons performed a chart review and telephone interviews. Major complications were defined as events that resulted in unplanned revision surgery, nerve injury (either temporary or permanent), refracture of the bone regenerate, or permanent functional sequelae. Minor complications were characterized as events that resolved without further surgical interventions.

Results: On our unvalidated assessment of patient function and independence, all patients reported improvement at their most recent follow-up compared with scores obtained before treatment (median [IQR] 24 [16 to 28] before surgery versus 44 [42 to 45] at latest follow-up, difference of medians 20 points, p < 0.001). A total of 89% (25 of 28) of patients achieved the desired 8 cm of lengthening in both arms. A total of 50% (14 of 28) of our patients experienced a major complication. Specifically, 39% (11 of 28) had an unplanned reoperation, 39% (11 of 28) had a radial nerve palsy, 18% (5 of 28) had a refracture of the regenerate, and 4% (1 of 28) concluded treatment with a severe limb length discrepancy. In addition, 82% (23 of 28) of our patients experienced minor complications that resolved without further surgery and did not involve radial nerve symptoms. Radial nerve palsy was observed immediately postoperatively in eight of 13 segments, and 1 to 7 days postoperatively in five of 13 segments. The treatment goal was not achieved because of radial nerve palsy in 5% (3 of 56) of lengthened segments, which occurred in 7% (2 of 28) of patients. Full functional recovery of the radial nerve was observed in all patients after a median (IQR) of 3 months (2 to 5). Refractures of bone regenerates were observed in 11% (6 of 56) of humeri in 18% (5 of 28) of patients. Of those refractures, 1 of 6 patients was treated nonsurgically with a hanging cast, while 5 of 6 patients underwent revision surgery with intramedullary rodding.

Conclusion: Most patients with achondroplasia who underwent humeral lengthening achieved the treatment goal without permanent sequelae; nonetheless, complications of treatment were common, and the road to recovery was long and often complicated, with many patients experiencing problems that were either painful (such as refracture) or bothersome (such as temporary radial nerve palsy). However, using a subjective scale, patients seemed improved after treatment; nevertheless, robust outcomes tools are not available for this condition, and so we must interpret that finding with caution. Considering our discoveries, bilateral humeral lengthening with a monolateral external fixator should only be considered in patients with severe functional impairments because of rhizomelic shortening of the upper extremities. If feasible, internal lengthening devices might be preferable, as these are generally associated with higher patient comfort and decreased complication rates compared with external fixators.

Level Of Evidence: Level IV, therapeutic study.