Rare Diseases Symptoms Automatic Extraction

A hand surgeon's advanced experience with thoracic outlet compression syndrome.

[thoracic outlet syndrome]

Although hand surgeons may often see patients with arm and hand pain, numbness and tingling in their practice, the possibility of the presence of thoracic outlet compression syndrome (TOCS) is not often considered. In our practice almost half of newly referred patients have the complaint of upper extremity pain, numbness and tingling. In approximately 50% of these patients detailed history and physical examination are suggestive of TOCS. For this reason it is quite important to recognize the possibility of the existence of this condition. Very often in the past, and occasionally today, this condition has been considered a controversial subject by numerous physicians because of the absence of objective findings in many patients. For several years it has been very well known that the objective findings are present in about 10% of patients and the remaining 90% of patients have subjective complaints. For this reason it has been one of the most commonly underrated, overlooked, and misdiagnosed conditions. During the last 22 years our experience with combined surgical approach for this condition (transaxillary first rib resection with immediate transcervical anterior and middle scalenectomy) has been quite satisfactory. During these years over 850 of these procedures were performed. Between 1989 and 2002 (13 years) 532 patients from a wide geographic area had this combined approach procedure. We were able to locate 358 of these patients for follow-up and of those only 102 responded to our questionnaire. Of the 102 who responded, 95 reported improvement of their symptoms. From 2003 to the middle of 2012, 350 patients from a wide region had this combined procedure. We sent a questionnaire to these patients and had only 57 to respond. Of those who responded, there were 19 bilateral interventions performed a few months apart, with a total of 76 procedures performed. Results based on these 76 procedures revealed 95% improvement of their symptoms. This combined approach for TOCS is the most complete intervention with high rate of improvement and low rate of recurrences.

Diseases presenting "low rate" symptom

  • 22q11.2 deletion syndrome
  • erythropoietic protoporphyria
  • junctional epidermolysis bullosa
  • thoracic outlet syndrome
  • trochlear dysplasia

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