Pseudoachondroplasia (
PSACH) is a well-described autosomal dominant short limb dwarfing condition caused by mutations in the
cartilage oligomeric matrix protein gene (COMP). The most debilitating complication of the disorder is
joint pain starting in childhood, the extent and severity of which is poorly defined. The aim of this study was to fully assess the
pain and identify additional clinical complications affecting those with
PSACH. An online survey was distributed to individuals with
PSACH. Of the 77 surveys analyzed, 83% reported
chronic pain starting as early as the newborn period.
Pain was most frequently reported in weight bearing joints including the knees, hips, and back, and significantly interfered with their overall quality of life. For
pain relief, patients with
PSACH used a wide variety of treatments. However, patients reported only a 60% resolution of
pain with their current treatments. An increase in other comorbidities was not found, specifically
osteoporosis was not increased. This study documents for the first time that
pain is the most common presenting symptom in
PSACH and is often overlooked until short stature becomes obvious. The recognition of
chronic pain as one of the earliest manifestations of
PSACH is important to allow for prompt diagnosis.