Skip to main content
Erschienen in: Clinical Rheumatology 5/2016

20.03.2014 | Case Based Review

Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review

verfasst von: L. Ventura-Ríos, C. Hernández-Díaz, L. Gutiérrez-Pérez, A. Bernal-González, R. Pichardo-Bahena, A. L. Cedeño-Garcidueñas, C. Pineda

Erschienen in: Clinical Rheumatology | Ausgabe 5/2016

Einloggen, um Zugang zu erhalten

Abstract

Alkaptonuria is a rare, hereditary metabolic disorder in which a deficiency in the homogentisate 1,2-dioxygenase enzyme results in an accumulation of homogentisic acid. Deposition of excess homogentisic acid in different intra- and extra-articular structures with high content of connective tissue causes brownish-black pigmentation and weakening, ultimately resulting in tissue degeneration and finally osteoarthritis. Ochronotic arthropathy is considered a rapidly progressive, disabling condition in which weight-bearing joints and the thoracolumbar spine are predominantly affected. Patients often require multiple joint replacements, such as in the case of the patient presented here. At present, there is no definitive cure for ochronosis, and management is predominantly symptomatic.
Literatur
1.
Zurück zum Zitat Ranganath L, Taylor AM, Shenkin A, Fraser WD, Jarvis J, Gallagher JA, Sireau N (2011) Identification of alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers. J Inherit Metab Dis 34(3):723–730CrossRefPubMed Ranganath L, Taylor AM, Shenkin A, Fraser WD, Jarvis J, Gallagher JA, Sireau N (2011) Identification of alkaptonuria in the general population: a United Kingdom experience describing the challenges, possible solutions and persistent barriers. J Inherit Metab Dis 34(3):723–730CrossRefPubMed
2.
Zurück zum Zitat Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphy M, Fitzpatrick D, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA (2002) Natural history of alkaptonuria. N Engl J Med 347:2111–2121CrossRefPubMed Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphy M, Fitzpatrick D, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA (2002) Natural history of alkaptonuria. N Engl J Med 347:2111–2121CrossRefPubMed
3.
Zurück zum Zitat Milch RA (1960) Studies of alkaptonuria: inheritance of 47 genes in highly inter-related Dominican kindreds. Am J Hum Genet 12:76–85PubMedPubMedCentral Milch RA (1960) Studies of alkaptonuria: inheritance of 47 genes in highly inter-related Dominican kindreds. Am J Hum Genet 12:76–85PubMedPubMedCentral
4.
Zurück zum Zitat Zatkova A (2011) An update on molecular genetics of Alkaptonuria (AKU). J Inherit Metab Dis 34:1127–1136CrossRefPubMed Zatkova A (2011) An update on molecular genetics of Alkaptonuria (AKU). J Inherit Metab Dis 34:1127–1136CrossRefPubMed
5.
Zurück zum Zitat Groseanu L, Marinescu R, Laptoiun D, Botezatu I, Staniceanu F, Zurac S, Ionescu R (2010) A late and difficult diagnosis of ochronosis. J Med Life 3:437–443PubMedPubMedCentral Groseanu L, Marinescu R, Laptoiun D, Botezatu I, Staniceanu F, Zurac S, Ionescu R (2010) A late and difficult diagnosis of ochronosis. J Med Life 3:437–443PubMedPubMedCentral
6.
Zurück zum Zitat Rovenský J, Urbánek T, Stančíková M (2012) The clinical picture of alkaptonuria and ochronosis. Reumatologia 4:324–335 Rovenský J, Urbánek T, Stančíková M (2012) The clinical picture of alkaptonuria and ochronosis. Reumatologia 4:324–335
7.
Zurück zum Zitat Helliwell TR, Gallagher JA, Ranganath L (2008) Alkaptonuria—a review of surgical and autopsy pathology. Histopathology 53:503–512PubMed Helliwell TR, Gallagher JA, Ranganath L (2008) Alkaptonuria—a review of surgical and autopsy pathology. Histopathology 53:503–512PubMed
8.
Zurück zum Zitat Ranganath R, Jarvis J, Gallagher J (2013) Recent advances in management of alkaptonuria. J Clin Pathol 66:367–373CrossRefPubMed Ranganath R, Jarvis J, Gallagher J (2013) Recent advances in management of alkaptonuria. J Clin Pathol 66:367–373CrossRefPubMed
9.
Zurück zum Zitat Toth K, Lenart E, Janositz G, Takacs K (2003) Ochronotic arthropathy. Scand J Rheumatol 32(5):315–317CrossRefPubMed Toth K, Lenart E, Janositz G, Takacs K (2003) Ochronotic arthropathy. Scand J Rheumatol 32(5):315–317CrossRefPubMed
10.
Zurück zum Zitat Laskar TH, Sarginson KD (1970) Ochronotic arthropathy—review of four cases. J Bone Joint Surg 52:653–655 Laskar TH, Sarginson KD (1970) Ochronotic arthropathy—review of four cases. J Bone Joint Surg 52:653–655
11.
Zurück zum Zitat Aliberti G, Pulignano I, Schiappoli A, Minisola S, Romagnoli E, Proietta M (2003) Bone metabolism in ochronotic patients. J Intern Med 254:296–300CrossRefPubMed Aliberti G, Pulignano I, Schiappoli A, Minisola S, Romagnoli E, Proietta M (2003) Bone metabolism in ochronotic patients. J Intern Med 254:296–300CrossRefPubMed
12.
Zurück zum Zitat Broman P, Bodur H, Ciliz D (2002) Ochronotic arthropathy. Rheumatol Int 21:205–209CrossRef Broman P, Bodur H, Ciliz D (2002) Ochronotic arthropathy. Rheumatol Int 21:205–209CrossRef
13.
Zurück zum Zitat La Du B (2002) Alkaptonuria. In: Royce RM, Steinman B (eds) Connective tissue and its heritable disorders: molecular, genetic and medical aspects. 2nd Ed. New York: Wiley-Liss, New York, pp 809–825 La Du B (2002) Alkaptonuria. In: Royce RM, Steinman B (eds) Connective tissue and its heritable disorders: molecular, genetic and medical aspects. 2nd Ed. New York: Wiley-Liss, New York, pp 809–825
14.
Zurück zum Zitat Ellaway CJ, Holme E, Standing S, Preece MA, Green A, Ploechl E, Ugarte M, Trefz FK, Leonard JV (2001) Outcome of tyrosinemia type III. J Inherit Metab Dis 24:824–832CrossRefPubMed Ellaway CJ, Holme E, Standing S, Preece MA, Green A, Ploechl E, Ugarte M, Trefz FK, Leonard JV (2001) Outcome of tyrosinemia type III. J Inherit Metab Dis 24:824–832CrossRefPubMed
15.
Zurück zum Zitat Gandhi R, Bahri N, Parekh S, Chudasama S, Shah C, Darnia B (2010) Literature and MR findings in ochronosis. Gujarat Med J 65(1):39–46 Gandhi R, Bahri N, Parekh S, Chudasama S, Shah C, Darnia B (2010) Literature and MR findings in ochronosis. Gujarat Med J 65(1):39–46
16.
Zurück zum Zitat Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airo P, Cammelli D, Andreotti L, Marcolongo R, Porfirio B (2004) Alkaptonuria, ochronosis, and ochronotic arthropathy. Semin Arthritis Rheum 33:239–248CrossRefPubMed Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airo P, Cammelli D, Andreotti L, Marcolongo R, Porfirio B (2004) Alkaptonuria, ochronosis, and ochronotic arthropathy. Semin Arthritis Rheum 33:239–248CrossRefPubMed
17.
Zurück zum Zitat O’Brien WM, La Du BN, Bunim JJ (1963) Biochemical, pathological and clinical aspects of alkaptonuria, ochronosis and ochronotic arthropathy. Review of the world literature (1584–1962). Am J Med 34:813–838CrossRef O’Brien WM, La Du BN, Bunim JJ (1963) Biochemical, pathological and clinical aspects of alkaptonuria, ochronosis and ochronotic arthropathy. Review of the world literature (1584–1962). Am J Med 34:813–838CrossRef
18.
Zurück zum Zitat Abate M, Schiavone C, Salini V, Andia I (2013) Occurrence of tendon pathologies in metabolic disorders. Rheumatology 52:599–608CrossRefPubMed Abate M, Schiavone C, Salini V, Andia I (2013) Occurrence of tendon pathologies in metabolic disorders. Rheumatology 52:599–608CrossRefPubMed
19.
Zurück zum Zitat Shah N, Goveas D, Khadilkar M (2012) A case of patellar tendon avulsion in an ochronotic patient and a review of the literature. JCR Indian J Med Case Rep 1:7–10 Shah N, Goveas D, Khadilkar M (2012) A case of patellar tendon avulsion in an ochronotic patient and a review of the literature. JCR Indian J Med Case Rep 1:7–10
20.
Zurück zum Zitat Filippou G, Frediani B, Selvi E, Bertoldi I, Galeazzi M (2008) Tendon involvement in patients with ochronosis: an ultrasonographic study. Ann Rheum Dis 67:1785–1786CrossRefPubMed Filippou G, Frediani B, Selvi E, Bertoldi I, Galeazzi M (2008) Tendon involvement in patients with ochronosis: an ultrasonographic study. Ann Rheum Dis 67:1785–1786CrossRefPubMed
21.
Zurück zum Zitat Byers Kraus V (2008) Ochronosis, Kashin-Beck disease and Mseleni joint disease. In: Hochberg MC (ed) Rheumatology, 4th edn. Elsevier, Spain, pp 1791–1801 Byers Kraus V (2008) Ochronosis, Kashin-Beck disease and Mseleni joint disease. In: Hochberg MC (ed) Rheumatology, 4th edn. Elsevier, Spain, pp 1791–1801
22.
Zurück zum Zitat Perry MB, Suwannarat P, Furst G, Gahl W, Gerber L (2006) Musculoskeletal findings an disability in alkaptonuria. J Rheumatol 33:2280–2285PubMed Perry MB, Suwannarat P, Furst G, Gahl W, Gerber L (2006) Musculoskeletal findings an disability in alkaptonuria. J Rheumatol 33:2280–2285PubMed
23.
Zurück zum Zitat Sahin G, Milcan A, Baðiþ A, Köktürk A, Pata C, Erdoğan C (2001) A case of ochronosis: upper extremity involvement. Rheumatol Int 21:78–80CrossRefPubMed Sahin G, Milcan A, Baðiþ A, Köktürk A, Pata C, Erdoğan C (2001) A case of ochronosis: upper extremity involvement. Rheumatol Int 21:78–80CrossRefPubMed
24.
Zurück zum Zitat Resnick D (2002) Alkaptonuria. In: Resnick D (ed) Diagnosis of one and joint disorders. 4th ed. Philadelphia, PA, USA: W.B. Saunders Company, Philadelphia, PA, USA, pp 1686–1691 Resnick D (2002) Alkaptonuria. In: Resnick D (ed) Diagnosis of one and joint disorders. 4th ed. Philadelphia, PA, USA: W.B. Saunders Company, Philadelphia, PA, USA, pp 1686–1691
25.
Zurück zum Zitat Koçyigit H, Gürgan A, Terzioglu R, Gürgan U (1998) Clinical, radiographic and echocardiographic findings in a patient with ochronosis. Clin Rheumatol 17(5):403–406CrossRefPubMed Koçyigit H, Gürgan A, Terzioglu R, Gürgan U (1998) Clinical, radiographic and echocardiographic findings in a patient with ochronosis. Clin Rheumatol 17(5):403–406CrossRefPubMed
26.
Zurück zum Zitat Keller JM, Macaulay W, Nercessian OA, Jaffe IA (2005) New developments in ochronosis: review of the literature. Rheumatol Int 2:81–85CrossRef Keller JM, Macaulay W, Nercessian OA, Jaffe IA (2005) New developments in ochronosis: review of the literature. Rheumatol Int 2:81–85CrossRef
27.
Zurück zum Zitat Takagi M, Ida H, Kobayashi S, Ishii M, Osanai T, Konttinen YT (2003) Ochronotic spondyloarthropathy: two case reports of progressive destructive changes in the hip. Mod Rheumatol 13:81–86CrossRefPubMed Takagi M, Ida H, Kobayashi S, Ishii M, Osanai T, Konttinen YT (2003) Ochronotic spondyloarthropathy: two case reports of progressive destructive changes in the hip. Mod Rheumatol 13:81–86CrossRefPubMed
28.
Zurück zum Zitat Azhar A, Khan R, Smyth H (2007) Ochronotic arthritis. Int J Shoulder Surg 1:77–80CrossRef Azhar A, Khan R, Smyth H (2007) Ochronotic arthritis. Int J Shoulder Surg 1:77–80CrossRef
29.
Zurück zum Zitat Shimizu I, Hamada T, Khalpey Z, Miyanishi K, Hara T (2007) Ochronotic arthropathy: pathological evidence of acute destruction of the hip joint. Clin Rheumatol 26:1189–1191CrossRefPubMed Shimizu I, Hamada T, Khalpey Z, Miyanishi K, Hara T (2007) Ochronotic arthropathy: pathological evidence of acute destruction of the hip joint. Clin Rheumatol 26:1189–1191CrossRefPubMed
30.
Zurück zum Zitat Steinger U, Lagier R (1973) Combined anatomical and radiological study of the hip-joint in alkaptonuric arthropathy. Ann Rheum Dis 31:369–373CrossRef Steinger U, Lagier R (1973) Combined anatomical and radiological study of the hip-joint in alkaptonuric arthropathy. Ann Rheum Dis 31:369–373CrossRef
31.
Zurück zum Zitat Lagier R (1980) The concept of osteoarthritic remodeling as illustrated by ochronotic arthropathy of the hip. An anatomic-radiological approach. Virchow Arch A Pathol Anat Histol 385:293–308CrossRef Lagier R (1980) The concept of osteoarthritic remodeling as illustrated by ochronotic arthropathy of the hip. An anatomic-radiological approach. Virchow Arch A Pathol Anat Histol 385:293–308CrossRef
32.
Zurück zum Zitat Lagier R, Baud CH, Lacotte D, Cunningham T (1988) Rapidly progressive osteoarthrosis of ochronotic origin. Am J Clin Pathol 90:95–102CrossRefPubMed Lagier R, Baud CH, Lacotte D, Cunningham T (1988) Rapidly progressive osteoarthrosis of ochronotic origin. Am J Clin Pathol 90:95–102CrossRefPubMed
33.
Zurück zum Zitat Lequesne M (1993) Rapidly progressing destructive diseases of the hip. Ann Radiol (Paris) 36:62–64 Lequesne M (1993) Rapidly progressing destructive diseases of the hip. Ann Radiol (Paris) 36:62–64
34.
Zurück zum Zitat Corra T, Zaccala M, Galante M (1995) Ochronotic arthropathy: rapidly destructive hip osteoarthritis associated with metabolic disease. Clin Rheumatol 14:474–477CrossRefPubMed Corra T, Zaccala M, Galante M (1995) Ochronotic arthropathy: rapidly destructive hip osteoarthritis associated with metabolic disease. Clin Rheumatol 14:474–477CrossRefPubMed
35.
Zurück zum Zitat Kruithof E, Baeten D, Veys EM, De Keyser F, Suykens S, De Wilde L, Verdonk R (2004) Case Number 29: Ochronosis: synovial histopathological characteristics. (Abstract). Ann Rheum Dis 6:130CrossRef Kruithof E, Baeten D, Veys EM, De Keyser F, Suykens S, De Wilde L, Verdonk R (2004) Case Number 29: Ochronosis: synovial histopathological characteristics. (Abstract). Ann Rheum Dis 6:130CrossRef
36.
Zurück zum Zitat Bayindir P, Yilmaz Ovali G, Pabuşçu Y, Temiz C, Duruoz T (2006) Radiologic features of lumbar spine in ochronosis in late stages. Clin Rheumatol 25:588–590CrossRefPubMed Bayindir P, Yilmaz Ovali G, Pabuşçu Y, Temiz C, Duruoz T (2006) Radiologic features of lumbar spine in ochronosis in late stages. Clin Rheumatol 25:588–590CrossRefPubMed
37.
Zurück zum Zitat Iannuccelli C, Coari G, Mastantuono M, Osimani M, Valesini G, Di Franco M (2009) Joint and tendineous involvement in ochronosis: clinical history and imaging of a case. Clin Exp Rheumatol 27:696–697PubMed Iannuccelli C, Coari G, Mastantuono M, Osimani M, Valesini G, Di Franco M (2009) Joint and tendineous involvement in ochronosis: clinical history and imaging of a case. Clin Exp Rheumatol 27:696–697PubMed
38.
Zurück zum Zitat Hamdulay SS, Finegold J, Boyer L, Khanna M, Akmal M, Walker A, Kinderlerer A (2012) Clinical images: magnetic resonance imaging appearance of alkaptonuria. (Abstract). Arthritis Rheum 64:129CrossRefPubMed Hamdulay SS, Finegold J, Boyer L, Khanna M, Akmal M, Walker A, Kinderlerer A (2012) Clinical images: magnetic resonance imaging appearance of alkaptonuria. (Abstract). Arthritis Rheum 64:129CrossRefPubMed
39.
Zurück zum Zitat Vinjamuri S, Ramesh CN, Jarvis J, Gallagher JA, Ranganath LL (2011) Nuclear medicine techniques in the assessment of alkaptonuria. Nucl Med Commun 32:880–886CrossRefPubMed Vinjamuri S, Ramesh CN, Jarvis J, Gallagher JA, Ranganath LL (2011) Nuclear medicine techniques in the assessment of alkaptonuria. Nucl Med Commun 32:880–886CrossRefPubMed
40.
41.
Zurück zum Zitat Preston AJ, Keenan CM, Sutherland H, Wilson PJ, Wlodarski B, Taylor AM, Williams DP, Ranganath LR, Gallagher JA, Jarvis JC (2014) Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone. Ann Rheum Dis 73:284–289CrossRefPubMed Preston AJ, Keenan CM, Sutherland H, Wilson PJ, Wlodarski B, Taylor AM, Williams DP, Ranganath LR, Gallagher JA, Jarvis JC (2014) Ochronotic osteoarthropathy in a mouse model of alkaptonuria, and its inhibition by nitisinone. Ann Rheum Dis 73:284–289CrossRefPubMed
Metadaten
Titel
Ochronotic arthropathy as a paradigm of metabolically induced degenerative joint disease. A case-based review
verfasst von
L. Ventura-Ríos
C. Hernández-Díaz
L. Gutiérrez-Pérez
A. Bernal-González
R. Pichardo-Bahena
A. L. Cedeño-Garcidueñas
C. Pineda
Publikationsdatum
20.03.2014
Verlag
Springer London
Erschienen in
Clinical Rheumatology / Ausgabe 5/2016
Print ISSN: 0770-3198
Elektronische ISSN: 1434-9949
DOI
https://doi.org/10.1007/s10067-014-2557-7

Weitere Artikel der Ausgabe 5/2016

Clinical Rheumatology 5/2016 Zur Ausgabe

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Labor, CT-Anthropometrie zeigen Risiko für Pankreaskrebs

13.05.2024 Pankreaskarzinom Nachrichten

Gerade bei aggressiven Malignomen wie dem duktalen Adenokarzinom des Pankreas könnte Früherkennung die Therapiechancen verbessern. Noch jedoch klafft hier eine Lücke. Ein Studienteam hat einen Weg gesucht, sie zu schließen.

Battle of Experts: Sport vs. Spritze bei Adipositas und Typ-2-Diabetes

11.05.2024 DDG-Jahrestagung 2024 Kongressbericht

Im Battle of Experts traten zwei Experten auf dem Diabeteskongress gegeneinander an: Die eine vertrat die Auffassung „Sport statt Spritze“ bei Adipositas und Typ-2-Diabetes, der andere forderte „Spritze statt Sport!“ Am Ende waren sie sich aber einig: Die Kombination aus beidem erzielt die besten Ergebnisse.

Vorsicht, erhöhte Blutungsgefahr nach PCI!

10.05.2024 Koronare Herzerkrankung Nachrichten

Nach PCI besteht ein erhöhtes Blutungsrisiko, wenn die Behandelten eine verminderte linksventrikuläre Ejektionsfraktion aufweisen. Das Risiko ist umso höher, je stärker die Pumpfunktion eingeschränkt ist.

Triglyzeridsenker schützt nicht nur Hochrisikopatienten

10.05.2024 Hypercholesterinämie Nachrichten

Patienten mit Arteriosklerose-bedingten kardiovaskulären Erkrankungen, die trotz Statineinnahme zu hohe Triglyzeridspiegel haben, profitieren von einer Behandlung mit Icosapent-Ethyl, und zwar unabhängig vom individuellen Risikoprofil.

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.