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Fırat Tıp Dergisi
2018, Cilt 23, Sayı 2, Sayfa(lar) 100-102
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Alkaptonuric Ochronosis; Hip Arthropathy - A Rare Case Treated with Total Hip Replacement
Mehmet YETİŞ1, Zafer ÜNVEREN1, Erdal UZUN2, Mustafa ÖZÇAMDALLI1, Turan Bilge KIZKAPAN3, Abdülhamit MISIR3
1Ahi Evran Üniversitesi Eğitim ve Araştırma Hastanesi, Ortopedi ve Travmatoloji Anabilim Dalı, Kırşehir, Türkiye
2Kayseri Eğitim ve Araştırma Hastanesi, Ortopedi ve Travmatoloji Kliniği, Kayseri, Türkiye
3Baltalimanı Metin Sabancı Eğitim ve Araştırma Hastanesi, Ortopedi ve Travmatoloji Kliniği, İstanbul, Türkiye
Keywords: Alkaptonüri, Okronozis, Eklem, Artroplasti, Kalça, Alkaptonuria, Ochronosis, Joint, Arthroplasty, Hip
Summary
Alkaptonuria is a rare autosomal-recessive metabolic disease caused by congenital homogentisic acid (HGA) oxidase enzyme deficiency which affects one in 100,000 to 250,000 individuals. Circulating HGA pass into various tissues through-out the body, mainly in cartilage and connective tissues, where its oxidation products polymerize and deposit as a melanin-like pigment. Currently, there is no specific treatment for alkaptonuria. A 63-year-old male patient presented to our clinic, complaining of chronic hip pain that had worsened over the previous 3 years. The patient also had darkly stained sclera and pinnae characteristic of ochronosis. A cementless right total hip replacement was performed. At the 5-year follow-up, the patient had returned to full activities, reported no hip pain, and was very satisfied with the outcome.
  • Top
  • Summary
  • Introduction
  • Case Presentation
  • Disscussion
  • References
    • Introduction
    Alkaptonuri is a rare metabolic disease caused by the lack of hemoglobinic acid oxidase (HGO) (homogentisic acid 1, 2 dioxygenase) enzyme which plays a role in the metabolism of tyrosine and phenylalanine. An autosomal recessive mutation of the HGO gene on chromosome 3 causes the the disease 1. It affects one in 100,000 to 250,000 individuals 1,2. As a result of this deficiency, clinically, homogentisic acid and its oxidation products accumulate in the connective tissue, associated with an increased pigmentation and the attenuation of the connective tissue. As the disease progresses, the chronic inflammation in the damaged tissue can cause degeneration and osteoarthritis 3. A blue-black colour change in tissue and the urine together with degenerative arthritis is known as ochronosis 4. In this report we present an excellent outcome with total hip replacement in a patient with significant degenerative arthritis secondary to ochronotic arthritis.
  • Top
  • Summary
  • Introduction
  • Case Presentation
  • Disscussion
  • References
    • Case Presentation
    A 63-year-old male patient presented to our clinic, complaining of chronic hip pain that had worsened over the previous 3 years. On physical examination, the right hip was neutrally aligned. There was a mild effusion, with tenderness over joint lines. The range of movement was limited and painful (extension was 0 degrees, flexion was 80 degrees, internal rotation was 10 degrees and external rotation was 30 degrees). Radiographically, the right hip showed degenerative osteophytic changes and osteophytes with narrowing and sclerosis of the joint space (Figure 1). The patient also had darkly stained sclera, pinnae and darkening of the urine characteristic of ochronosis (Figure 2). There was also blue-dark pigmentation of the hip joint (Figure 3). There was no pathology in biochemical parameters or urinalysis. The patient had no history of continuous drug use and no chronic disease history.


    Click Here to Zoom    		 Figure 1: XRay rontgenogram showing degenerative osteophytic changes and osteophytes of the right hip and sclerosis of the joint space.


    Click Here to Zoom    		 Figure 2: Patient’s darkly stained sclera and pinnae and darkening of the urine; characteristic of ochronosis.


    Click Here to Zoom    		 Figure 3: Blue-dark pigmentation of the hip joint.

    No other family members had similar complaints. Total hip replacement was decided to be performed due to the degenerative osteoartritis. Informed consent was obtained from the patient.

    Positioned in supin position, the right hip was reached via the anterior approach with standard Watson-jones incision. After the skin insicion and reaching the hip joint extreme black pigmentation was seen in the capsule, femoral head and acetabulum (Figure 3).

    Femoral head was sent to pathology for examination. Cementless right total hip replacement was performed (Figure 4). No complications were encountered peri or postoperatively.


    Click Here to Zoom    		 Figure 4: XRay rontgenogram showing cementless right total hip replacement.

    The patient progressed well postoperatively, maintaining a good range of motion and achieving independent ambulation 4 weeks after surgery. At the 5-year follow-up, the patient had returned to full activities, reported no hip pain, and was very satisfied with the outcome.
  • Top
  • Summary
  • Introduction
  • Case Presentation
  • Disscussion
  • References
    • Discussion
    Alkaptonuria is an autosomal recessive metabolic disorder characterized by joints and spine involvement, ochronosis and presence of homogentisic acid (HGA) in urine and its deposition in cartilage, and other connective tissues, leading to disabling arthritis in elderly individual (5). It affects one in 100,000 to 250,000 individuals 1,2. It is caused by the lack of HGO enzyme deficiency due to an autosomal recessive mutation of the HGO gene on chromosome 3 which plays a role in the metabolism of tyrosine and phenylalanine. The defective enzyme leads to an accumulation of HGA in tissues and blood over the years, and polymers of HGA are deposited in the tissues, causing the dark pigmentation encountered in these patients 6,7. The first finding is a colour change in the urine 4. Ochronotic arthropathy is seen most between the ages of 40-60 years and in weight-bearing joints which is a particularly troublesome feature 8. Typically, involvement of the large peripheral joints occurs several years after spinal involvement 9. Usually, involvement of these joints is severe and often requires joint replacement 4,9 .

    In the current case who was aged 63 years, there was right hip joint involvement. Apart from colour changes associated with joint involvement, the characteristics resemble primary osteoarthritis 10. The intraoperative visualisation of the blue-black colour change in the joint tissue of the current case is typical.

    In the literature the treatment regimes were described due to the complaints of degeneration of especially hip and knee joints 11,12. In the late stages of arthritis, orthopedic surgery is prominent. In our case, hip arthroplasty were performed after the failure of conservative treatment modalities. We could obtain extremely good results with arthroplasty after 5 year follow up. Arthroplasty is effective for treating severe arthritis of the knee ascribable to ochronosis. We report an excellent outcome with total hip replacement in a patient with significant degenerative arthritis secondary to ochronotic arthritis. Alkaptonuria is an inherited disease which can lead to severe consequences. Early diagnosis and new treatments can enhance the quality of life of patients suffering from this disease.
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  • Summary
  • Introduction
  • Case Presentation
  • Discussion
  • References
    • References

    1) Keller JM, Macaulay W, Nercessian OA, Jaffe IA. New developments in ochronosis: review of the literature. Rheumatol Int 2005; 25: 81-5.

    2) Forslind K, Wollheim FA, Akesson B, Rydholm U. Alkaptonuria and ochronosis in three siblings. Ascorbic acid treatment monitored by urinary HGA excretion. Clin Exp Rheumatol 1988; 6: 289-92.

    3) Mohapatra S, Biswas T, Das S, Saxena A. Ochronosis of the hip joint: differential diagnosis of inflammatory arthropathy with lytic lesion. Indian J Clin Biochem 2014; 29: 112-3.

    4) Kefeli M, Tomak Y, Can B, Baris S. Arthroplasty for the treatment of joint degeneration caused by ochronosis in two cases. Acta Orthop Traumatol Turc 2008; 42: 139-44.

    5) Saigal R, Tank ML, Pathak P, Choudhary A, Saigal S. Alkaptonuric ochronosis. Assoc Physicians India 2016; 64: 79-80.

    6) Gaines JJJ. The pathology of alkaptonuric ochronosis. Hum Pathol 1989; 20: 40-6.

    7) Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, et al. The molecular basis of alkaptonuria. Nat Genet 1996; 14: 19-24.

    8) Bezer M, Kocaoglu B, Guven O. Ankylosis of the spine in a case with ochronosis. Acta Orthop Traumatol Turc 2003; 37: 344-7.

    9) Fisher AA, Davis MW. Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review. Clin Med Res 2004; 2: 209-15.

    10) Kocyigit H, Gurgan A, Terzioglu R, Gurgan U. Clinical, radiographic and echocardiographic findings in a patient with ochronosis. Clin Rheumatol 1998; 17: 403-6.

    11) Aydogdu S, Cullu E, Ozsoy MH, Sur H. Cementless total knee arthroplasty in ochronotic arthropathy: a case report with a 4-year follow-up. J Arthroplasty 2000; 15: 539-43.

    12) Jahan F, Nanji K, Qidwai W, Qasim R. Fibromyalgia syndrome: an overview of pathophysiology, diagnosis and management. Oman Med J 2012; 27: 192-5.
  • Top
  • Summary
  • Introduction
  • Case Presentation
  • Discussion
  • References
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