Pseudoxantoma elástico / Pseudoxanthoma elastic

Resumo O pseudoxantoma elástico é uma doença generalizada do tecido conjuntivo envolvendo a pele, olhos e sistema cardiovascular desencadeando a fragmentação e calcificação das fibras elásticas. Geralmente ocorre após a puberdade, as manifestações características são manchas pequenas, circunscritas, amareladas, localizadas no pescoço, axila e pregas inguinais. Estrias angioides na retina, tendência à hemorragia e insuficiência arterial são as complicações mais comuns. Esta doença pode ser herdada como autossômica dominante ou recessiva. O tratamento das manifestações oculares convencional é através da fototerapia a laser impedindo a ocorrência de hemorragias locais. Entretanto, novas abordagens terapêuticas estão sendo desenvolvidas como a utilização em longo prazo de drogas antiangiogênicas, as quais atuam inibindo a neovascularização ocular. Apesar de não ter ainda efetivamente substituído o tratamento original, pesquisas recentes já evidenciam benefícios da nova técnica. O objetivo deste estudo é relatar sobre o caso de uma paciente de 37 anos, portadora do pseudoxantoma elástico, com estrias angioides e hemorragia ocular, e o tratamento eficaz com a terapia antiangiogênica no ambulatório de oftalmologia em Nova Iguaçu, Rio de Janeiro.

Abstract The pseudoxanthoma elasticum is a generalized disease of the connective tissue involving the skin, eyes and cardiovascular system triggering the fragmentation and calcification of elastic fibers. Usually occurs after puberty, the manifestations characteristics are small spots, circumscribed, yellowish, located on the neck, axilla and inguinal folds. Angioid streaks in the retina, tendency to hemorrhage and arterial insufficiency are the most common complications. This disease can be inherited as autosomal dominant or recessive. The treatment of ocular manifestations is through the conventional phototherapy laser preventing the occurrence of local hemorrhages. However, new therapeutic approaches are being developed as the long-term use of drugs antiangiogenic, which act by inhibiting the ocular neovascularization. Despite not having yet effectively replaced the original treatment, recent research already show benefits of new technique. The objective of this study is to report on a case of a patient of 37 years, the carrier of the Pseudoxanthoma Elasticum, with angioid streaks and ocular hemorrhage, and the effective treatment with antiangiogenic therapy at the clinic of Ophthalmology in Nova Iguaçu, Rio de Janeiro.

Non-arteritic anterior ischemic optic neuropathy (NA-AION) after intravitreal injection of bevacizumab (Avastin) for treatment of angoid streaks in pseudoxanthoma elasticum.

BACKGROUND: To report a case of nonarteritic anterior ischemic optic neuropathy (NA-AION) following intravitreal injection of bevacizumab (Avastin). METHODS: Interventional case report with an 18-month follow-up. RESULTS: A 51-year-old male with pseudoxanthoma elasticum presented with NA-AION 2 weeks after treatment with intravitreal of bevazicumab (Avastin) for choroidal neovascularisation secondary to angioid streaks. Except from a small optic disc without cupping he did not show further risk factors. DISCUSSION: Risk of NA-AION should be taken into consideration when deciding for intravitreal application of drugs including anti-vascular endothelial growth factors (VEGF) agents like bevacizumab (Avastin) in the treatment of retinal vascular diseases.

Arterial calcifications in beta-thalassemia.

The purpose of this study was to define the incidence of arterial calcifications in patients with beta-thalassemia. Beta-thalassemia patients have been shown to present a high prevalence of angioid streaks and skin lesions characteristic of pseudoxanthoma elasticum (PXE). Given the fact that vascular involvement in the form of arterial calcifications is also a common manifestation of PXE, the authors investigated radiographically the presence of arterial calcifications in beta-thalassemia patients. They studied 40 patients with beta-thalassemia over 30 years of age. Forty healthy, age- and sex-matched subjects were chosen as a control group. Radiographs of the tibias were performed in order to disclose arterial calcifications. The occurrence of PXE skin lesions and of angioid streaks (AS) was also investigated. Arterial calcifications were detected in the posterior tibial artery in 22 (55%) beta-thalassemia patients and in six (15%) controls (P < 0.01 for the comparison). PXE skin lesions and AS were found in eight (20%) and 21 (52%) patients respectively. A total of 34 patients (85%) had at least one of the three lesions, namely, arterial calcifications, angioid streaks, and/or PXE-like skin lesions. Stepwise logistic regression analysis did not reveal prognostic value in independent variables such as transfusions, chelation therapy, pseudoxanthoma elasticum skin lesions and/or angioid streaks, diabetes, hemoglobin, serum ferritin, and uric acid. It was concluded that arterial calcifications are common in older beta-thalassemia patients. This finding could be a manifestation of an acquired PXE syndrome associated with beta-thalassemia, and consequently, vascular events complicating PXE should be expected in these patients.

Angioid streaks in homozygous beta thalassemia.

One hundred patients with homozygous beta thalassemia (62 had beta thalassemia major and 38 had beta thalassemia intermedia) were examined by ophthalmoscopy for angioid streaks. Angioid streaks were found in 20 patients from both the beta thalassemia major and beta thalassemia intermedia groups (nine and 11 patients, respectively). A positive correlation was found between age and angioid streaks (P = .0017), as was a difference in the prevalence of angioid streaks between the two forms of the disease (P = .079). Additionally, a significant correlation was noted between chelating therapy and the prevalence of angioid streaks (P = .039). However, using multivariate analysis to correct for the effects of age, the correlation of angioid streaks with the form of disease disappeared, whereas the level of significance between chelation therapy and angioid streaks was reduced (P = .05). The high frequency of angioid streaks observed in patients with beta thalassemia and the severe complications observed in one patient render a thorough ophthalmoscopic examination and follow-up of such patients necessary for both early diagnosis and possible therapeutic intervention.