Is there a familial carpal tunnel syndrome? An evaluation and literature review

Primary Familial Carpal Tunnel Syndrome with Long-term Followup: A Study of Two Families and Review of the Literature

“…However, when onset of disease occurs at an early age in a patient with a strongly positive family history and/or bilateral symptoms, a hereditary condition such as FCTS should be excluded [1][2][3][4]13]. FCTS is a rare disorder characterized by early onset CTS, presenting at an average age of 27 [1-3, 8, 13, 18] Symptoms typically begin on one side, but ultimately progress to bilateral involvement in 96% of patients [13]. Clinical features are those of classic CTS: numbness and tingling in the radial three and a half digits, clumsiness of the affected hand, and pain, frequently disruptive of sleep [1][2][3][4]13].…”

“…FCTS is a rare disorder characterized by early onset CTS, presenting at an average age of 27 [1-3, 8, 13, 18] Symptoms typically begin on one side, but ultimately progress to bilateral involvement in 96% of patients [13]. Clinical features are those of classic CTS: numbness and tingling in the radial three and a half digits, clumsiness of the affected hand, and pain, frequently disruptive of sleep [1][2][3][4]13]. The diagnosis of FCTS is by exclusion and requires that other, more common causes of bilateral CTS be ruled out (Table 1) [4].…”

“…The diagnosis of FCTS is by exclusion and requires that other, more common causes of bilateral CTS be ruled out (Table 1) [4]. Laboratory studies, including thyroid stimulating hormone, creatinine, glucose, and growth hormone assays are normal, as are genetic studies [1][2][3][4]13]. Electrodiagnostic testing reveals the typical median nerve neuropathy [1,2,19].…”

“…In conjunction with the higher incidence of thickened transverse carpal ligaments among FCTS patients, these findings have been used to suggest that the disease may represent an inherited connective tissue diathesis [13,20]. The pathophysiology underlying FCTS remains unknown, but a connective tissue etiology would account for many of the similarities between the presentations of FCTS and CTS due to storage diseases known to affect connective tissue structures [1].…”

“…In addition, there are few reports noting outcomes in children afflicted with this condition. Only 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]. Longitudinal outcome measures have never been reported for pediatric FCTS patients.…”