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Alkaptonuria: Spontaneous Achilles tendon rupture: Case report
Emre Baca1, Alev Kural, Nezih Ziroglu
1Department of Orthopedics and Traumatology, Bakırköy Dr. Sadi Konuk Training and Research Hospital, 34147 Bakırköy, İstanbul, Turkey.
Eklem Hastaliklari Ve Cerrahisi = Joint Diseases & Related Surgery
|October 26, 2019
Summary
Alkaptonuria, a rare genetic disorder, was diagnosed in a 61-year-old male presenting with Achilles tendon rupture. Intraoperative findings revealed characteristic tissue discoloration, confirming the diagnosis of homogentisic acid accumulation.
Area of Science:
- Biochemistry
- Genetics
- Orthopedics
Background:
- Alkaptonuria is an autosomal recessive metabolic disorder.
- It results from a deficiency in the HGA oxidase enzyme, leading to homogentisic acid accumulation.
- This accumulation affects connective tissues, causing characteristic discoloration and degeneration.
Observation:
- A 61-year-old male patient underwent surgery for a spontaneous Achilles tendon rupture.
- Intraoperative examination revealed unusual dark pigmentation of the tendon and surrounding tissues.
- Subsequent investigations confirmed the presence of alkaptonuria.
Findings:
- The patient's presentation with Achilles tendon rupture was attributed to underlying alkaptonuria.
- Histopathological examination confirmed homogentisic acid deposition in the affected tissues.
- Literature review highlights the association between alkaptonuria and connective tissue pathologies.
Implications:
- This case underscores the importance of recognizing rare metabolic disorders in orthopedic presentations.
- Early diagnosis of alkaptonuria can guide management and prevent complications.
- Further research into HGA oxidase enzyme function and therapeutic strategies is warranted.
