Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Angioid streaks are asymptomatic breaks in Bruch's membrane developing later in life. Secondary macular degeneration and other fundus abnormalities often accompany their development. Angioid streaks are frequently associated with systemic diseases such as pseudoxanthoma elasticum, Paget's disease of bone, and the sickle cell hemoglobinopathies. The clinical manifestations of angioid streaks, related fundus changes, and these three systemic disorders are discussed as well as principles of treatment and management. Two case reports are presented which illustrate some of the important characteristics of angioid streaks.
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PMID:Diagnosis and management of angioid streaks. 318 86

Angioid streaks are often associated with a systemic condition, most frequently pseudoxanthoma elasticum, Paget's disease of the bone, or one of the sickle hemoglobinopathies. The clinical manifestations of angioid streaks and those three systemic conditions are reviewed. A diagnostic survey is suggested for patients discovered to have angioid streaks with no known systemic disease. The results of such a survey in 50 patients are presented. In addition, separate studies of patients with Paget's disease of the bone (50 patients) and of the sickle hemoglobinopathies (100 patients) are described, and the characteristics of patients with angioid streaks as well as the incidence of streaks in these conditions is reviewed. The histopathologic and fluorescein angiographic characteristics of angioid streaks, as well as the possible benefit of photocoagulation for complications of angioid streaks is discussed.
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PMID:Angioid streaks. 704 15

Angioid streaks have been described in a diverse group of diseases including hemoglobinopathies such as sickle cell anemia and beta-thalassemia. We investigated the prevalence of angioid streaks and pseudoxanthoma elasticum in the rare situation of patients who had compound heterozygous traits for hemoglobin S and beta-thalassemia. We examined 58 consecutive patients with sickle-thalassemia. Of these, 25 were men and 33 were women, and they ranged in age from 19 to 58 years (mean, 32.6 years). Angioid streaks were identified in six of 58 patients (10%), and of these three also displayed the cutaneous lesions of pseudoxanthoma elasticum, which were confirmed by skin biopsy. An expanded study on several relatives of the patients with angioid streaks failed to identify any similar cases. Statistical evaluation of the main hematologic and biochemical parameters in the patients with and without angioid streaks did not demonstrate any significant differences, except that the thalassemic component in all six patients with angioid streaks was beta(0) (that is, did not allow the synthesis of hemoglobin A). We conclude that angioid streaks and pseudoxanthoma elasticum skin lesions occur with an increased frequency in patients with sickle-thalassemia.
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PMID:Angioid streaks in sickle-thalassemia. 817 64

Angioid streaks were first described by Doyne in 1889. Since that time histopathology and diagnostic methods have been greatly improved. Angioid streaks of the fundus are not apparent at birth. The earliest form is known as "peau d'orange". The end stage is disciform macular degeneration, helicoid peripapillary atrophy or diffuse choroidal sclerosis. Moreover, macular hemorrhage and precipitation of angioid streaks have frequently been noted after trauma. Angioid streaks have been described in a diverse group of diseases including pseudoxanthoma elasticum, Paget's disease, hemoglobinopathies such as sickle cell anemia and beta-thalassemia.
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PMID:[Angioid streaks. Pathogenesis and the clinical picture]. 883 55

The development of clinical and histopathologic manifestations of a diffuse elastic tissue defect, resembling inherited pseudoxanthoma elasticum (PXE), has been encountered with a notable frequency in patients with beta thalassemia, sickle cell disease, and sickle thalassemia. The PXE-like clinical syndrome, consisting of skin, ocular, and vascular manifestations, has a variable severity in these hemoglobinopathies and it is age-dependent, with a generally late onset, after the second decade of life. The defect is believed to be acquired rather than inherited and related to the consequences of the primary disease. The high prevalence of the findings implicates the elastic tissue injury as one of the main comorbid abnormalities encountered in beta thalassemia and the sickling syndromes. In these patients a number of complications, sometimes serious, has been recognized to be related to ocular and vascular elastic tissue defects. Because several organ systems are involved, each medical specialty should be aware of the phenomenon. This coexistence, on the other hand, introduces a novel pathogenetic aspect of PXE and an important research challenge.
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PMID:Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes. 1175 49

The coexistence of a pseudoxanthoma elasticum (PXE)-like syndrome in beta-thalassemia and other hemoglobinopathies is a recently established clinical entity that has been observed with a significant frequency and related to some severe, even life-threatening complications. We present here a thalassemia intermedia patient who developed unstable angina in a setting of severe anemia and PXE-related coronary arterial calcification. Besides the clinical significance of this PXE-like syndrome, its acquired nature may introduce some new thoughts regarding the pathogenesis of atherosclerosis.
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PMID:Unstable angina associated with coronary arterial calcification in a thalassemia intermedia patient with a pseudoxanthoma elasticum-like syndrome. 1263 Dec 61

An acquired diffuse elastic tissue defect that resembles inherited pseudoxanthoma elasticum (PXE) has been noticed with a significant age-related frequency in hemoglobin disorders, especially beta-thalassemia and has been held responsible for a number of complications observed in these cases, some of which are quite severe. We report here two patients with beta-thalassemia intermedia, who presented with severe visual acuity impairment associated with angioid streaks, the typical ocular manifestation of PXE.
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PMID:Loss of vision associated with angioid streaks in beta-thalassemia intermedia. 1822 11

In patients with angioid streaks, additional investigations are useful to identify underlying systemic disease, unless age and short peripapillary streaks are indicative of senile streaks as an isolated abnormality. In middle-aged or young adults with angioid streaks and no obvious systemic disease, the possibility of a hemoglobulinopathy or pseudoxanthoma elasticum (PXE) as etiologic entities should be investigated. Hemoglobinopathies can be excluded based on blood screening and the absence of typical ocular fundus changes, such as retinal vessel tortuosity. This allows making a presumed clinical diagnosis of PXE in patients with angioid streaks, based on exclusion of a hemoglobinopathy, and on the presence of extensive angioid streaks, peau d'orange, crystalline bodies and comet tail lesions. For confirmation of PXE, the gold standard was dermatologic examination and skin biopsy, but since the last decade molecular diagnosis is available. In rare cases, PXE can be diagnosed using molecular techniques in patients with apparently normal skin and negative skin biopsies, as demonstrated in this case and another case published in 2011.
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PMID:Pseudoxanthoma elasticum confirmed by genetic analysis but not by skin biopsy: a case report and review of the literature. 2492 87

A pseudoxanthoma elasticum (PXE)-like phenotype develops in a subset of patients with inherited hemoglobinopathies. Although PXE tissue changes are thought to develop in the absence of ABCC6 mutations in patients with beta-thalassemia, ABCC6 mutations have not been well evaluated among sickle cell disease patients with PXE-like disease. To our knowledge, we describe the first patient with sickle cell disease, PXE skin findings, and two confirmed pathogenic ABCC6 mutations. This case suggests that ABCC6 testing is warranted for sickle cell disease patients with the PXE-like phenotype and that the pathogenesis of PXE manifestations in beta-thalassemia and sickle cell disease may differ.
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PMID:Classic pseudoxanthoma elasticum in a girl with sickle cell disease. 3053 62