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Pseudoachondroplasia and painful sequelae.
Candace Gamble1, Joanne Nguyen1,2, S Shahrukh Hashmi1,2
1Medical School, University of Texas Health Science Center at Houston, Texas.
American Journal of Medical Genetics. Part A
|July 17, 2015
Summary
Chronic pain is the most common symptom of Pseudoachondroplasia (PSACH), often starting in infancy and significantly impacting quality of life. Early recognition of this pain is crucial for prompt diagnosis of PSACH.
Area of Science:
- Genetics and Skeletal Dysplasias
- Rheumatology and Pain Management
Background:
- Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia caused by mutations in the cartilage oligomeric matrix protein (COMP) gene.
- Joint pain is a primary complication of PSACH, beginning in childhood, but its prevalence and severity are not well-defined.
Purpose of the Study:
- To comprehensively assess the extent and severity of chronic pain in individuals with PSACH.
- To identify other clinical complications associated with PSACH.
- To evaluate the effectiveness of current pain management strategies.
Main Methods:
- An online survey was distributed to individuals diagnosed with PSACH.
- Data from 77 completed surveys were analyzed to determine pain characteristics, affected joints, quality of life impact, and treatment outcomes.
Main Results:
- 83% of participants reported chronic pain, often beginning in the newborn period.
- Weight-bearing joints (knees, hips, back) were most commonly affected, significantly impacting quality of life.
- Current treatments provided only a 60% pain resolution; no increased incidence of comorbidities like osteoporosis was observed.
Conclusions:
- Chronic pain is the most frequent presenting symptom of PSACH, frequently preceding the recognition of short stature.
- Recognizing pain as an early manifestation aids in earlier diagnosis and management of PSACH.
- Further research into effective pain management for PSACH is warranted.
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