Abstract
SUMMARY Discussion of the pathophysiology and the treatment with nifedipine of the second familiy in literature with hereditary proctalgia fugax, internal anal sphincter hypertrophy and constipation. A second family with hereditaray proctalgia fugax and internal anal sphincter hypertrophy associated with constipation is described. Anorectal ultrasonography, manometry, and sensory tests were conducted in two symptomatic and one asymptomatic subjects within the same family and further clinical information was obtained from other family members. The inheritance would correspond to an autosomal dominant condition which incomplete penetration, presenting after the second decade of life. Physiological studies showed deep, ultraslow waves and an absence of internal anal sphincter relaxation on rectal distension in the two most severly affected family members, suggesting the possibility of a neuropathic origin. Both of these patients had an abnormaly high blood pressure. After treatment with a sustained release formulation of the calcium antagonist, nifedipine, their blood pressure returned to normal, anal tone was reduced, and the frequency and intensity of anal pain was suppressed. Thease together improved the quality of the patients' sleep, which had previously been very troubled because of night time attacks of pain.
