Silent Suffering: Congenital Insensitivity to Pain With Anhidrosis in a Single Family
Abstract
Hereditary sensory and autonomic neuropathy type IV, commonly known as congenital insensitivity to pain with anhidrosis (CIPA), is a rare autosomal recessive disorder. It is characterized by a profound dysfunction of the sensory and autonomic nervous systems, leading to a global inability to perceive pain or temperature alongside a complete absence of sweating. Clinically, affected individuals typically present with a classic triad of symptoms: severe analgesia, a total lack of pain perception that frequently results in self-mutilation (such as biting the tongue, lips, and fingertips), recurrent fractures, and joint deformities; anhidrosis, which impairs body temperature regulation and often triggers life-threatening hyperpyrexia; and varying degrees of neurological involvement, including intellectual disability and behavioral challenges. This report details a case series within a single extended family involving two sisters and two of their paternal cousins (a brother and sister). All four patients presented with classic clinical hallmarks of CIPA, which were subsequently confirmed through genetic analysis. The patients exhibited multiple complications, including chronic infections and orthopedic injuries resulting from their lack of protective pain sensation. Managing CIPA requires a highly specialized, multidisciplinary approach to mitigate self-injury and manage febrile episodes.
How strong is the evidence?
Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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