Ochronosis of hip joint; a case report
© Siavashi et al; licensee BioMed Central Ltd. 2009
Received: 6 November 2009
Accepted: 16 December 2009
Published: 16 December 2009
Ochronosis is connective tissue manifestation of Alkaptonuria. Joint involvement specially hip and knee destruction is seen. The cartilage is pigmented and destroyed. It is interested for both pathologists and orthopedic surgeons.
A 54 years old woman with hip fracture after simple falling is candidate for surgery, but, after skin and subcutaneous incision over deep fascia there was dark blue pigmentation which continues toward hip joint. After biopsy of soft tissues and bone, in another operation, we replace hip joint.
In this case, besides of cartilage destruction of hip joint, there was a lythic lesion of neck of femur which causes pathologic fracture of hip joint. We planned Total hip replacement instead of bipolar for her because of cartilage damage of acetabulum.
Ochronosis is the connective tissue manifestation of alkaptonuria, a defect in the metabolism of homogentisic acid (HGA) caused by autosomal recessive mutations of the HGO gene on chromosome 3q .
Homogentisic acid oxidase is responsible for the turnover of homogentisic acid (HGA) during the course of phenylalanine and tyrosine catabolism . HGA accumulates and is polymerized into a blue-black pigment that ultimately is deposited in the skin, cartilage, and collagenous tissues. Specifically, pigment deposition can be seen in skin, bones, articular cartilages, synovial membranes, lungs, heart endocardium and valves, and kidneys . The accumulation eventually causes severe degeneration of the spine and peripheral joints which may clinically simulate common arthritic disorders . Alkaptonuria is a rare disease affecting one in 250,000-1 million people [5, 6].
The most common clinical feature of ochronosis is ochronotic arthritis. Other common presentations of ochronosis are:
Darkening of urine with exposure to air or reducing agents.
Renal and prostatic stones .
Ochronosis has a classic triad: 1) degenerative arthritis; 2) ochronotic pigmentation; and 3) urine that turns black upon alkalinization. Confirmatory tests for diagnosis are chromatographic, enzymatic, or spectrophotometric determinations of HGA.
Currently, symptomatic treatment of the complications of alkaptonuria is the only option . A symptomatic approach including treatment of pain, physiotherapy, chiropractic care, and education of the patient for a home exercise program is the treatment of choice.
Alleviation of pain and significant increases in activity has been achieved with total joint replacement of the hips, knees, elbows and shoulders. A successful treatment for tendon ruptures due to ochronosis is primary repair. High-dose vitamin C decreases urinary benzoquinone acetic acid, but has no effect on HGA excretion and, moreover, no credible studies have shown that treatment with vitamin C is clinically effective. Nitisinone, a potent inhibitor of 4-hydroxyphenylpyruvate dioxygenase, dramatically reduces production and urinary excretion of homogentisic acid; however, the effectiveness of Nitisinone in treating ochronosis remains unknown.
We took a sample of the black tissue for pathologic exam and also another sample of the base of greater trochanteric region, which had a lytic appearance in x-ray of hip. The result of pathologic exam of these samples had shown nothing but ochronosis. In another operation, after about 2 weeks, we replaced the fractured hip with cemented hip prosthesis.
Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.
With a great thanks to the patient who let us publish her pictures as this paper.
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