Knee pain: an unanticipated finding related to a rare genetic disorder--abetalipoproteinemia

Purpose: The purpose of this case study is to raise awareness about an uncommon cause of knee pain.

Data sources: Review of literature was done using PubMed, CINAHL, and Medline. There was no limitation placed on the publication year. Only articles written in English were included.

Conclusion: Knee pain is a common diagnosis that many healthcare providers see on a daily basis in their practice. Musculoskeletal injury or trauma is most commonly identified as the cause of this symptom. However, there are rare instances in which an unexpected finding in a client's history and physical exam lead us to an unexpected cause, such as abetalipoproteinemia. Abetalipoproteinemia is a rare autosomal recessive disorder in which an affected individual does not absorb lipids or the lipid-soluble vitamins A, D, E, and K. Multiple body systems are impacted by this fat malabsorption and resultant vitamin deficiencies. Without corrective supplementation, clinical manifestations which are directly related to the vitamin deficiencies will appear as presented in this case study-knee pain.

Implications for practice: This case study emphasizes the need for nurse practitioners to seek out opportunities to further our knowledge which will enhance our clinical expertise as well as the quality of the health care we provide to our clients.