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Acta Bio-medica : Atenei Parmensis Jun 2022Alkaptonuria is a rare disease characterized by the accumulation of homogentisic acid (HGA). Over time, these patients may develop disabling ochronotic arthropathy. We...
BACKGROUND AND OBJECTIVE
Alkaptonuria is a rare disease characterized by the accumulation of homogentisic acid (HGA). Over time, these patients may develop disabling ochronotic arthropathy. We present 2 cases of patients with end-stage arthropathy treated with total knee arthroplasty (TKA).
METHODS
Both patients complained of disabling knee pain and reported limited walking distance (200-300 m). One had a history of osteotomy for medial knee arthtritis and ignored his underlying condition. The other presented with valgus gonoarthrosis and diagnosis of alkaptonuria.
RESULTS
Intraoperatively, the characteristic dark-blue color in the joint was observed. Both patients evolved favorably after TKA with excellent results according to the Knee Society Scores (KSS) at three years of follow-up.
CONCLUSION
We believe TKA is the right treatment for patients with end-stage disease because it offers considerable relief from pain and allows patients to recover function.
Topics: Alkaptonuria; Arthroplasty, Replacement, Knee; Humans; Joint Diseases; Ochronosis; Pain
PubMed: 35671127
DOI: 10.23750/abm.v92iS1.10439 -
Turk Gogus Kalp Damar Cerrahisi Dergisi Jan 2022Alkaptonuria is a rare inherited metabolic disease caused by homogentisic acid oxidase enzyme deficiency. Homogentisic acid formed during phenylalanine and tyrosine...
Alkaptonuria is a rare inherited metabolic disease caused by homogentisic acid oxidase enzyme deficiency. Homogentisic acid formed during phenylalanine and tyrosine metabolism cannot be further metabolized and accumulates due to this enzyme deficiency. Some of the homogentisic acid that cannot be removed by metabolism is excreted with urine, some of it causes this accumulation known as ochronosis, which is characterized by dark pigmented color change in tissues. The classic clinical triad of the disease is darkening of the urine color, degenerative arthritis in the joints and dark colored pigmentation in the connective tissue. Herein, we present a case of ochronosis detected incidentally during aortic valve replacement with the diagnosis of aortic insufficiency.
PubMed: 35444851
DOI: 10.5606/tgkdc.dergisi.2022.20909 -
Clinical Case Reports Apr 2022Blue discoloration of the skin and cartilage, or ochronosis, is a rare physical examination finding. We present two cases of childhood onset ochronosis, one exogenous...
Blue discoloration of the skin and cartilage, or ochronosis, is a rare physical examination finding. We present two cases of childhood onset ochronosis, one exogenous and one endogenous in etiology. The first was caused by minocycline use for severe acne, and the second was caused by congenital alkaptonuria.
PubMed: 35441025
DOI: 10.1002/ccr3.5717 -
Journal of Orthopaedic Case Reports Dec 2021Ochronotic arthropathy (OcA) is a consequence of alkaptonuria, a rare systemic-inherited metabolic disorder leading to accumulation of homogentisic acid in articular...
INTRODUCTION
Ochronotic arthropathy (OcA) is a consequence of alkaptonuria, a rare systemic-inherited metabolic disorder leading to accumulation of homogentisic acid in articular cartilage and subsequent early degeneration of the joints. Only few cases of OcA managed with bilateral total knee arthroplasty (TKA) has been described in the literature so far. We aim to discuss surgical pearls, pitfalls, and clinical outcome of OcA of knees managed with simultaneous bilateral TKA.
CASE PRESENTATION
The patient was a 52-year-old female presented to outpatient facility with severe bilateral knee pain and difficult ambulation. After clinical and radiological diagnosis of osteoarthritis, she was posted for bilateral TKA. During arthrotomy, blackening of articular cartilage, quadriceps and patellar tendon, and synovium was noted. Subchondral bone was free of pigmentation though, seemed osteopenic while taking bone cuts. Right knee was implanted with cruciate retaining components with ultracongruent insert; while on the left side, posterior stabilized components were used. Diagnosis of ochronosis was made retrospectively with characteristic subtle pigmentation of nails, palms, pinnae, and urine homogentisic levels. Two years follow-up of the patient remained satisfactory without any major complications.
CONCLUSION
OcA may present with intra-operative surprise to the surgeon if not anticipated preoperatively. Simultaneous bilateral TKA is safe and effective treatment for end-stage arthritis. However, it is difficult to diagnose it preoperatively; a high clinical suspicion leads to meticulous assessment and counseling regarding potential anesthetic concerns, choice of implant, and possible intra-operative and post-operative complications reported sporadically though.
PubMed: 35415137
DOI: 10.13107/jocr.2021.v11.i12.2554 -
Journal of Orthopaedic Case Reports Oct 2021Alkaptonuria is a rare autosomal recessive metabolic disorder characterized by accumulation of homogentisic acid (HGA) due to an inherited deficiency of the enzyme HGA...
INTRODUCTION
Alkaptonuria is a rare autosomal recessive metabolic disorder characterized by accumulation of homogentisic acid (HGA) due to an inherited deficiency of the enzyme HGA oxidase. Unlike rheumatoid arthritis which affects the small joints of the hands and feet, ochronotic arthropathy predominantly involves the large weight-bearing joints such as hips, knees, and spine. The knee is the most common joint to be affected. Ochronotic arthropathy is usually managed conservatively, but for severely affected hip and knee joints, replacement is considered.
CASE REPORT
This report describes a case of 57-year-old male who presented with bilateral knee osteoarthritis who was incidentally diagnosed with ochronosis intraoperatively during total knee arthroplasty, its challenges faced and post-operative functional outcome after 18 months follow-up.
CONCLUSION
This case report highlights the need for high index of suspicion for preoperative diagnosis of ochronotic arthropathy. Difficult spinal anesthesia should be anticipated. Friable and stiff tendon due to ochronotic involvement can put the extensor tendon at risk of rupture during retraction of patella intraoperatively. Post-operative active quadriceps rehabilitation should be done with caution due to friable tendon.
PubMed: 35415103
DOI: 10.13107/jocr.2021.v11.i10.2464 -
Surgical Neurology International 2022Alkaptonuria (AKU) is a rare hereditary disorder in which excess homogentisic acid (HGA) deposits in connective tissues (ochronosis). Here, we report the unusual...
BACKGROUND
Alkaptonuria (AKU) is a rare hereditary disorder in which excess homogentisic acid (HGA) deposits in connective tissues (ochronosis). Here, we report the unusual presentation of a lumbar disc herniation occurring in a patient with AKU warranting surgical intervention.
CASE DESCRIPTION
A 28-year-old male presented with 1 year of low back pain. The lumbar magnetic resonance imaging showed an extruded disc at the L4-L5 level accompanied extensive disc space narrowing and osteophyte formation. At surgery, the interspinous ligaments, facet joints, and disc herniation were black. In addition, the postoperative re-examination revealed a black discoloration of the nasal and ear cartilage. Finally, the diagnosis of AKU was confirmed when the urine specimen was positive for HGA.
CONCLUSION
Rarely, younger patients with AKU who develop excess black deposits of HGA in connective tissues (i.e., ochronosis) may present with lumbar disc herniations and spondylosis.
PubMed: 35127215
DOI: 10.25259/SNI_1178_2021 -
JAAD Case Reports Jan 2022
PubMed: 34977311
DOI: 10.1016/j.jdcr.2021.10.037 -
Acta Orthopaedica Et Traumatologica... Dec 2021Alkaptonuria-related rapidly destructive arthropathy of the hip joint has not been reported in detail with both imaging and histopathological findings in the literature.... (Review)
Review
Alkaptonuria-related rapidly destructive arthropathy of the hip joint has not been reported in detail with both imaging and histopathological findings in the literature. We, herein, presented the case of a 79-year-old male patient who suddenly started experiencing marked right hip pain. Radiography showed that the femoral head was spherical; however, after 3 months, approximately half of the femoral head was destroyed despite there being almost no change in the acetabulum. Radiographs of the spine also showed fusion between multiple vertebrae. Significant osteoporosis was observed on roentgenography, together with decreased bone density. Urinary gas chromatography-mass spectrometry analysis revealed that a large amount of homogentisic acid was excreted. During total hip arthroplasty, gray and muddy contents were observed in the joint capsule, and the surface of the destroyed femoral head was black. Histopathologically, granulomatous foci containing fragmented bone and cartilage debris were found in the bone marrow space of the joint surface, and the cartilage tissue was pigmented brownish black. The patient was subsequently diagnosed with ochronotic hip joint destruction. The present case report is the first to demonstrate rapidly destructive coxopathy associated with alkaptonuria using both imaging and histopathological findings. These findings clearly show that severe hip joint destruction defined as rapidly destructive hip arthropathy can occur in a very short time period for patients with alkaptonuria.
Topics: Aged; Alkaptonuria; Femur Head; Hip Joint; Humans; Joint Diseases; Male; Ochronosis
PubMed: 34967747
DOI: 10.5152/j.aott.2021.21205 -
Medicine Dec 2021This study aimed to determine the patient characteristics and clinical presentation of Alkaptonuria cases reported by the Biochemical Genetics Lab.An observational study... (Observational Study)
Observational Study
This study aimed to determine the patient characteristics and clinical presentation of Alkaptonuria cases reported by the Biochemical Genetics Lab.An observational study was conducted at the Biochemical Genetics Lab. Alkaptonuria patients were diagnosed based on the homogentisic acid peak in urine and their demographics and clinical data collected from to 2013 to 2019. Clinical history related to joint diseases, ochronotic presentation, and urine darkening on standing was collected.During 7 years, 21 Alkaptonuria cases were reported from BGL; mean age 19.4 ± 24.5 years (range 0.2-66 years) and male to female ratio of 2:1. Of the total, only 9 were adults (mean age, 44 ± 12 years). Most adult patients had musculoskeletal involvement, with joint pain (n = 9) and ochronotic pigmentation (n = 6), whereas all patients presented with a history of urine darkening on standing (21/21 cases).The high prevalence of musculoskeletal involvement observed in patients with albuminuria is likely to be missed by physicians unless specifically tested for in such cases.
Topics: Adolescent; Adult; Aged; Alkaptonuria; Child; Child, Preschool; Cross-Sectional Studies; Female; Humans; Infant; Joint Diseases; Male; Middle Aged; Musculoskeletal System; Ochronosis; Pakistan; Young Adult
PubMed: 34941093
DOI: 10.1097/MD.0000000000028241 -
Bone Reports Dec 2021Two cases of advanced alkaptonuria (AKU) with co-existing osteoporosis are described. Case 1 developed multiple non-vertebral fragility fractures, while Case 2 developed...
Two cases of advanced alkaptonuria (AKU) with co-existing osteoporosis are described. Case 1 developed multiple non-vertebral fragility fractures, while Case 2 developed vertebral fragility fractures, both refractory to bisphosphonates. Difficulties in diagnosing osteoporosis in AKU complicated by extensive calcifying and ossifying spondylosis are discussed. Both patients continued to fracture despite nitisinone therapy for metabolic control of AKU, as well as bisphosphonate antiresorptive therapy for osteoporosis. Subsequently the patients were treated with teriparatide 20 μg subcutaneous injections daily for two years, leading to reduction in fractures soon after commencing therapy in both cases. Markers of bone remodelling P1NP and CTX were stimulated. No complications due hypercalcaemia or calcification were encountered in either case. We conclude that teriparatide is an effective adjunct in the treatment of AKU when bisphosphonates prove ineffective.
PubMed: 34926730
DOI: 10.1016/j.bonr.2021.101151