Delay in diagnosis of homocystinuria: retrospective study of consecutive patients
| Autor: | G.H.J. Boers, A.F. Deutman, J.R.M. Cruysberg, J.M.F. Trijbels |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
Marfan syndrome
Adult Male medicine.medical_specialty Pediatrics Enzymatische en moleculair genetische defecten als oorzaak voor hyperhomocysteinemia Time Factors Letter Adolescent diagnosis and treatment (till October 1 1996) [Hyperhomocysteinemia] Dislocated lenses and congenital cataract Cystathionine beta-Synthase Homocystinuria Disease Ectopia Lentis Marfan Syndrome Central nervous system disease medicine Myopia Humans Ectopia lentis GeneralLiterature_REFERENCE(e.g. dictionaries encyclopedias glossaries) General Environmental Science Subluxation biology business.industry diagnose en behandeling van milde vormen [Hyperhomocysteinemie] General Engineering diagnostiek en behandeling (tot 1 oktober 1996) [Hyperhomocysteinemie] Infant Retrospective cohort study General Medicine Middle Aged medicine.disease Cystathionine beta synthase Enzymatic and molecular genetic defects causing hyperhomocysteinemia diagnosis and treatment of mild abnormalities. [Hyperhomocysteinemia] Ectopia lentis en vroegtijdig cataract Surgery biology.protein General Earth and Planetary Sciences Female business Research Article |
| Zdroj: | Bmj. British Medical Journal (Compact Ed.), 313, pp. 1037-1040 Bmj. British Medical Journal (Compact Ed.), 313, 1037-1040 Bmj. British Medical Journal (Compact Ed.), 313, 7064, pp. 1037-1040 |
| ISSN: | 0959-8138 1756-1833 0959-535X |
| Popis: | Objective: To assess the causes for delay in the diagnosis of homocystinuria. Design: Clinical and laboratory data were collected from patients diagnosed as having homocystinuria due to cystathionine synthase deficiency, with special reference to the ages at which the patients had their first major signs of the disease, ectopia lentis was established, and homocystinuria was diagnosed. Setting: University hospital in the Netherlands. Subjects: 34 patients (18 males) in whom homocystinuria due to cystathionine synthase deficiency was diagnosed in the period 1970–94. Results: Among 34 consecutively detected homocystinuria patients the mean age at diagnosis of homocystinuria was 24 (range 1–61) years. Despite frequent ocular manifestations, serious complications in the vascular, skeletal, and central nervous systems, and repeated examinations performed in these patients by clinicians of various disciplines, there was a mean delay of 11 (0–43) years between the first major signs of the disease (at mean age 13 (1–40) years) and the ultimate diagnosis of homocystinuria. Even when ectopia lentis was diagnosed (in 26 (76%) patients, mean age 18 (1–50) years), this did not lead to adequate biochemical analysis for homocystinuria at the time of detection, causing a mean diagnostic delay of 8 (0–24) years in these patients. Conclusions: Three factors should have precipitated the diagnosis of homocystinuria: early recognition that unusual myopia (high, very high, abnormal progressive, or at young age) was caused by subluxation of the ocular lenses; awareness that the occurrence of myopia combined with systemic complications (“myopia plus”) might be due to homocystinuria; and appropriate biochemical investigations carried out in patients with ectopia lentis and in their siblings. Key messages High myopia may be caused by ectopia lentis Unusual myopia combined with skeletal, vascular, or central nervous system manifestations may have its origin in homocystinuria Patients with ectopia lentis should have appro- priate blood examinations for homocystinuria |
| Databáze: | OpenAIRE |
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