Abstract A patient with calcified aortic valve disease secondary to ochronosis and alkaptonuria is presented. Urgent aortic valve replacement was necessary. The cardiovascular complications of this disease are reviewed. [ncbi.nlm.nih.gov]

Bullough, MB, ChB, presents a unique, lavishly illustrated account of the pathology of arthritic disorders, metabolic disturbances, and soft tissue and bone tumors. [books.google.com]

Ochronosis is a rare condition in which eye findings are almost always present. 1 This disease has not been stressed in ophthalmological literature, but its detection is a matter of considerable importance. [jamanetwork.com]

• Pathologist

  It’s the ideal resource for the orthopaedic surgeon and radiologist as well as the trainee and practicing pathologist. [books.google.com]

  Copyright College of American Pathologists Jul 2001 Provided by ProQuest Information and Learning Company. All rights Reserved Return to Alcaptonuria [the-medical-dictionary.com]

  In one instance an ochronotic eye was enucleated for suspecting melanoma, and diagnosis of ochronosis was set by the pathologist [ 52 ]. [bmcophthalmol.biomedcentral.com]

• Family History of Arthritis

  No significant information arose from the history as the patient did not suffer from any chronic disease, did not take medication on a regular basis, did not smoke and had no family history of arthritis. [medcraveonline.com]

• Dyspnea

  Case Report In April 2003, a 67-year-old woman who had severe aortic valvular stenosis and moderate mitral valve insufficiency presented at our clinic with dyspnea. [ncbi.nlm.nih.gov]

  The cartilaginous tissue of the respiratory system may also be affected by ochronosis with heavy deposition of the pigment in the laryngeal, tracheal and bronchial cartilages resulting in hoarseness, dyspnea and difficult airway access. 4 Hoarseness may [apicareonline.com]

  […] attack of the urinary system with the presence of swelling and calculus of the prostate, nephrolithiasis, renal failure, usually in late stages [24,25], as well as attack of the respiratory system with the appearance of throat dryness, dysphagia and dyspnea [medcraveonline.com]

• Cutaneous Manifestation

  In effect, this process mimics the cutaneous manifestation of endogenous ochronosis. Pseudo-ochronosis appears to be due to deposits of traumatically implanted silver onto collagen bundles. [dermaamin.com]

• Arthritis

  Track disease progression and treat patients more effectively with the information on genetic findings, imaging outcomes, cell and biologic therapies, rheumatoid arthritis, and SLE. [books.google.com]

  These include massive urinary excretion of HGA, arthritis and joint destruction, pigmentation of cartilage and connective tissue, and cardiac valve deterioration. [ncbi.nlm.nih.gov]

  Patient had been suffering form low backache, arthritis of the knees, hip and small joints of hands and feet for the past 10 years. [ijdvl.com]

  Semin arthritis rheum 6:207, 1977. Dn19296-1. [icd10data.com]

• Back Pain

  Sclerae Pigment causes the collagen fibres to loose normal resilience Becomes brittle & fibrillated Degenerative changes in joints follow May have pyrophosphate crystals in joint Loose body formation not uncommon Clinical features The first complaint is back [orthofracs.com]

  Musculoskeletal symptoms began in most of our patients around the age of 30 years with back pain and stiffness: involvement of the large peripheral joints usually occurred several years after spinal changes. [ncbi.nlm.nih.gov]

  He also had complaints of back pain for 6 months, stiffness of knee joints for 2 months. He was aware of brown to black discoloration of urine for the past 2 years. No similar lesion was known to be present in his family. [pigmentinternational.com]

  Back pain Back pain is often the first sign of systemic involvement. It is often described as a dull, aching pain with stiffness. It can occur as early as ages 20-30. [rheumatologyadvisor.com]

  Firstly patients suffer low back pain with stiffness, followed by knee, shoulder and hip pain over the next 10 years. Cartilage becomes brittle and can break apart easily. [dermnetnz.org]

• Low Back Pain

  Firstly patients suffer low back pain with stiffness, followed by knee, shoulder and hip pain over the next 10 years. Cartilage becomes brittle and can break apart easily. [dermnetnz.org]

  Symptoms and clinical appearance Many patients remain initially asymptomatic for years or decades or show non-specific symptoms in the affected organs, which also occur in other diseases (for example, low-back-pain). [omicsonline.org]

  Patient also experienced non-radiating low back pain for three years, described as mild scoliosis with calcification on the lumbosacral joint on radiograph. Aside from these, there are also tangible thickening of both Achilles tendons. [oatext.com]

  Low back pain and stiffness are common symptoms and are sometimes seen before the age of 30. Discs between the vertebrae flatten and calcify. [rarediseases.org]

  Among the 47 patients who were more than 30 years old, low back pain began before the age of 30 in 23 (49 percent); among the 35 patients who were more than 40 years old, low back pain began before the age of 40 in 33 (94 percent). [nejm.org]

• Loss of Lumbar Lordosis

  In the thoracolumbar spine, one may see osteopenia, loss of lumbar lordosis, multilevel calcification of the annulus fibrosus, vacuum phenomenon, and progressive narrowing of intervertebral spaces. [roentgenrayreader.blogspot.com]

  Radiological examination of spine showed loss of lumbar lordosis, reduction in all disc spaces, and fusion of vertebral bodies with dense calcification of all intervertebral discs [Figure 4] a and b. [mjdrdypu.org]

  […] of lumbar lordosis (Figure 3 ). [archivesofrheumatology.org]

  Loss of lumbar lordosis, decreased spinal mobility, and loss of overall height can occur. Cervical spine and pubic symphysis joints can also be affected. Sacroiliac and apophyseal joints are not affected. [rheumatologyadvisor.com]

• Large Joint Involvement

  For large joints, involvement of the joint spaces was scored as absent (0); minimal, with osteophytes, subchondral cysts, or both, but no narrowing of joint spaces (1); mild, with minimal joint-space narrowing (2); moderate, with marked joint-space narrowing [nejm.org]

• Dark Urine

  Up to 25% of patients with alkaptonuria do not have the characteristic dark urine staining; many patients remain undiagnosed until adulthood. [radiopaedia.org]

  Dark urine (after exposure to sunlight). Images: Ochronosis - eye (nejm.org). Ochronosis - hip (nih.gov/CMAJ). Microscopic Features: Deposits of (acellular) brown pigment (H&E sections) - key feature. May be dark magenta. [librepathology.org]

  Discussion Alkaptonuria was first described in 1584, in children with dark urine. [scielo.br]

  Alkaptonuria should be suspected in individuals with dark urine. [rarediseases.org]

• Calcified Aortic Valve

  Abstract A patient with calcified aortic valve disease secondary to ochronosis and alkaptonuria is presented. Urgent aortic valve replacement was necessary. The cardiovascular complications of this disease are reviewed. [ncbi.nlm.nih.gov]

  Dereymaeker L, Van Parijs G, Bayart M, Daenen W, Lauwerijns J, et al. (1990) Ochronosis and alkaptonuria: report of a new case with calcified aortic valve stenosis. Acta Cardiol 45(1): 87-92. [medcraveonline.com]

This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations. [books.google.com]

Arthroscopic treatment of shoulder ochronotic arthropathy: A case report and review of literature. Knee Surgery, Sports Traumatology, Arthroscopy, 14 (2), 176-181. [moh-it.pure.elsevier.com]

[…] and the symptoms are known to subside with proper treatment. [dovemed.com]

Testing for carriers with a tyrosine load may give results but as some have 50% of normal enzyme activity it is unsatisfactory.4 It is common to find a negative family history of the condition Prognosis - Alkaptonuria Alkaptonuria does not appear to affect [checkorphan.org]

[…] calcification : tends to be widespread (and involves nucleus pulposus) syndesmophyte formation multilevel disc space narrowing Joints symmetrical or asymmetrical joint space loss: early osteoarthritis subchondral sclerosis chondrocalcinosis Treatment and prognosis [radiopaedia.org]

(Outcomes/Resolutions) The prognosis of Ochronosis may be positive or negative, depending on whether it is endogenous or exogenous and the treatment methods used. [dovemed.com]

Prognosis [ 5 ] Life expectancy is normal but there is considerable morbidity, with significant pain beginning as early as the age of 30. [patient.info]

Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases. [books.google.com]

Key words: Alkaptonuria/complications, aortic valve stenosis/etiology/surgery, homogentisic acid/urine, heart valve diseases/etiology/pathology, heart valve prosthesis implantation, joint diseases/etiology, ochronosis/complications/diagnosis/urine, pigmenta-tion [ncbi.nlm.nih.gov]

But there are also acquired forms whose etiology and / or pathogenesis are not or only partially known. Acquired ochronosis may occur after contact with toxic agents such as Hydroxychinin, phenols, benzene and picric acid. [omicsonline.org]

(Etiology) Ochronosis can either be caused by internal (endogenous) factors or external (exogenous) factors. [dovemed.com]

Deficiency of Homogentistic Acid Oxidase » accumulation of Homogentistic Acid Memory aid “ONC HOG” Characterised by Homogentistic acid in urine Dark pigmentation of connective tissues - Ochronosis Calcification of hyaline & fibrocartilage - Chondrocalcinosis Epidemiology [orthofracs.com]

Pigmentation of the aortic and mitral valve cusps and valve rings is a result of intracellular and extracellular pigment deposition and is associated with calcification and clinically significant aortic stenosis. [ 8 ] Epidemiology [ 9 ] It occurs in [patient.info]

Exogenous ochronosis: An epidemiological study. Br J Dermatol 1989;120:229-38. 42. Zawar V, Tan SK. Exogenous ochronosis: A review for clinicians. Expert Rev Dermatol 2012;7:171-80. 43. [e-ijd.org]

The typical age at requiring joint replacement surgery is 50–55 years. [1] Epidemiology [ edit ] In most ethnic groups, the prevalence of alkaptonuria is between 1:100,000 and 1:250,000. [4] In Slovakia and the Dominican Republic, the disease is much [en.wikipedia.org]

Epidemiology Frequency United States Alkaptonuria is a rare autosomal recessive disease with a prevalence of 1 case per 1 million population. [emedicine.medscape.com]

Theories on the pathophysiology of joint disease include: Homogentisic acid is a chemical irritant or that it can alter structure and biochemical signaling. [rheumatologyadvisor.com]

Beginning with the history, genetics, pathophysiology and diagnostics of the disease, the authors subsequently present a detailed characterization of its clinical manifestation in the spine, peripheral joints, eyes, ears, visceral organs and respiratory [axon.es]

Also, a propensity to developing kidney stones exists, and eventually also gallstones and stones in the prostate and salivary glands ( sialolithiasis ) can occur. [1] Pathophysiology [ edit ] Chemical skeletal formula of homogentisic acid, which accumulates [en.wikipedia.org]

Pathophysiology Ochronosis was defined by Virchow who histologically described the connective tissue in alkaptonuria, given the cartilage's ochre, or yellow, hue under the microscope. [emedicine.medscape.com]

[…] sun exposure to limit damage to the skin Currently, there are no specific methods or guidelines to prevent Alkaptonuric Ochronosis, since it is a genetic condition. [dovemed.com]

The purpose of treatment is to prevent life-threatening complications. Symptomatic treatment is often prescribed for the arthritic symptoms and valvular heart disease (antalgics, anti-inflammatories and surgery). [therapeutique-dermatologique.org]

Treatment and Prevention There is no cure for ochronotic arthropathy. The enzyme deficiency is as yet untreatable, but there is hope of gene therapy in the future. [diagnose-me.com]

Prevention - Alkaptonuria It is not possible to identify heterozygous carriers yet and prenatal screening is not available. [checkorphan.org]

Prevention It is not possible to identify heterozygous carriers yet and prenatal screening is not available. [patient.info]