Abstract
Background: Familial carpal tunnel syndrome is a rare hereditary disorder characterized by early onset bilateral carpal tunnel syndrome. A lack of long-term outcome data exists for patients afflicted by this condition. This study examines the long-term subjective outcomes of patients managed with open carpal tunnel release for the diagnosis of familial carpal tunnel syndrome. Methods and findings: Three patients were diagnosed with familial carpal tunnel syndrome: a 13 y old girl whose maternal family has three consecutive generations of carpal tunnel syndrome, and a 16 y old boy and his 47 y old father whose family has four consecutive generations of carpal tunnel syndrome. All patients completed the Boston Carpal Tunnel Questionnaire at an average of 13.5 y following their initial surgical treatment. Responses revealed onset of new symptoms in the 13 y old girl’s contralateral wrist and symptom recurrence in the 16 y old boy and his 47 y old father. Following carpal tunnel release, the 13 y old girl is now asymptomatic. The 16 y old boy and his father, despite carpal tunnel release, still suffer from moderate and mild functional impairment. The conclusions of our study, along with those of other studies that detail the nature of this syndrome, are limited by the small number of familial carpal tunnel syndrome patients. Conclusion: In cases of early onset familial carpal tunnel syndrome, carpal tunnel release may prove only partially effective in resolving symptoms. Patients should be counseled that recurrent symptoms may develop despite successful initial carpal tunnel release.
Highlights
Carpal tunnel syndrome (CTS) is the most common neuropathy of the upper extremity [1, 2]
Zabriskie et al unintentionally reported the first series of patients with familial carpal tunnel syndrome (FCTS) when they documented the symptoms of three sisters in 1935 [6]
A small fraction of the less than 1% of CTS patients who present with symptoms prior to age 20 have been diagnosed with FCTS [13]
Summary
Carpal tunnel syndrome (CTS) is the most common neuropathy of the upper extremity [1, 2]. When disease is bilateral and family history is positive, one should rule out hereditary neuropathies, inborn errors of metabolism such as mucopolysaccharidosis, and underlying systemic disorders such as endocrinopathies, renal disease, and amyloidosis (Table 1) [1,2,3,4,5]. The absence of more common etiologies should lead one to consider the primary inherited form of the disease: familial carpal tunnel syndrome (FCTS). Familial carpal tunnel syndrome is a rare hereditary disorder characterized by early onset bilateral carpal tunnel syndrome. A lack of long-term outcome data exists for patients afflicted by this condition. This study examines the long-term subjective outcomes of patients managed with open carpal tunnel release for the diagnosis of familial carpal tunnel syndrome
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