Homozygous Factor v Leiden Mutation in a Child With Meningococcal Purpura Fulminans

Saçkesen, Cansm; Seçmeer, G; Gürgey, Aytemiz; Ecevit, Zafer; Ceyhan, Mehmet; Bulun, Almila; Kara, Ateş; Türkmen, Özlem; Parlak, Hülya

doi:10.1097/00006454-199801000-00023

Cited by 20 publications

(13 citation statements)

References 9 publications

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“…The presence of the FV G1691A mutation in six (46%) of 13 small children indicates that this mutation may be a risk factor for PF in children of a young age, as has been shown previously [4,12,14]. The association between post-infectious PF and FV G1691A mutation has also been reported previously [4,12,14,19]. In these studies, the need for an evaluation of hereditary defects in the inhibitory mechanisms of blood coagulation in patients with PF has been emphasized [4,12,14].…”

Section: Discussionmentioning

confidence: 55%

“…The association between post-infectious PF and FV G1691A mutation has also been reported previously [4,12,14,19]. In these studies, the need for an evaluation of hereditary defects in the inhibitory mechanisms of blood coagulation in patients with PF has been emphasized [4,12,14]. Kondaveeti et al studied the effect of the FV G1691A mutation on the severity of meningococcal disease.…”

Section: Discussionmentioning

confidence: 83%

“…Seven were excluded from the study because of insufficient data, leaving 16 patients as the subjects of this study. Three children with PF whose cases have been reported in our previous publications were also included in this group [3,4,13].…”

Section: Methodsmentioning

confidence: 99%

“…Severe protein C (PC) or protein S (PS) deficiencies, antiphospholipid antibodies (APA) and factor V G1691A (FV G1691A), prothrombin G20210A (PT G20210A), and the plasminogen activator inhibitor were also shown to be participants in the development of PF [1][2][3][4][5][6][7][8]. It is possible that methylene tetrahydrofolate reductase C677T (MTHFR C677T) mutation, homocysteine, lipoprotein (a), or antiphospholipid antibody may play a role in development of PF.…”

Section: Introductionmentioning

confidence: 99%

“…In the neonatal period, PF is usually associated with severe hereditary PC and PS deficiencies [2,3]. On the other hand, some patients with PF have been reported to be particularly susceptible to the disorder because of a defect, the FV G1691A mutation [4,12].…”

Section: Introductionmentioning

confidence: 99%

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Outcome in children with purpura fulminans: Report on 16 patients

et al. 2005

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Purpura fulminans (PF) is a severe disorder of acute onset with high morbidity and mortality. In children, this rapidly progressive illness is usually associated with severe bacterial or viral infections. However, some other conditions may participate in the development of PF. Our objective was to investigate the underlying and associated disorders and the outcomes of the disease in 16 children, 7 males and 9 females ranging in age from 3.5 months to 12 years (median age, 2 years). Thirteen of the 16 children (81%) were 4 years of age or younger. The remaining 3 patients were 9, 10, and 12 years of age. Among these 13 infants and small children, 7 (43%) had infection, 2 infants had congenital cardiac disorders necessitating minor or major surgical intervention, and 1 infant and 3 children had different miscellaneous disorders. The factor V G1691A mutation was present in six of the 13 small children (46%). None of the 3 older children carried the mutation. Six (37.5%) of the 16 patients had protein C deficiencies, and 9 (56%) had protein S deficiencies. These deficiencies, except one for protein S, were acquired. Ten patients except two who were diagnosed at this center were treated with fresh frozen plasma. They were also given heparin. Nine (69%) of the 13 children 4 years of age or younger and one of the older children (33%) required amputation. Five of the six patients (83%) who had factor V G1691A mutation, and who also exhibited severe infection, required amputation. This study suggests that an age of 4 years or less is a risk factor for the development of PF during severe infections, especially in the presence of factor V G1691A mutation and congenital heart disease, necessitating major or minor surgical interventions. This study also shows that the amputation rate in 10 patients, after excluding the patients who had been referred to our center after development of sequelae, was 60%. The survival rate among these 10 patients may indicate that, with the treatment protocol, PF need not be regarded as a lethal disease any more. It is also suggested that effective immunization programs and better health care have probably resulted in some changes in the etiological profile of PF. Am. J. Hematol. 80:20–25, 2005. © 2005 Wiley‐Liss, Inc.

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Section: Discussionmentioning

confidence: 55%

Section: Discussionmentioning

confidence: 83%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Outcome in children with purpura fulminans: Report on 16 patients

et al. 2005

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Adult Purpura Fulminans and Digital Necrosis Associated With Sepsis and the Factor V Mutation

Jackson¹

1998

JAMA: The Journal of the American Medical Association

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Association of Inhaled Corticosteroid Use With Cataract Extraction in Elderly Patients

Garbe¹

1998

JAMA

181

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Context.-The use of systemic corticosteroids is a known risk factor for the development of cataracts. Objective.-To determine whether treatment with inhaled corticosteroids is associated with cataract extraction in the elderly. Design.-Case-control study. Setting.-Quebec universal health insurance program for all elderly (provincial health insurance plan database [RAMQ database]). Patients.-RAMQ enrollees 70 years and older. The 3677 cases were patients with a cataract extraction between 1992 and 1994. The 21 868 controls were randomly selected from patients who did not have a diagnosis of cataract and matched to cases on the index date of the case. Main Outcome Measures.-Odds ratio of cataract extraction in patients with prolonged cumulative exposure to inhaled corticosteroids compared with nonusers. Results.-Excluding patients with systemic steroid treatment and after adjusting for age, sex, diabetes, systemic hypertension, glaucoma, ophthalmic steroids, and the number of physician claims for services, use of inhaled corticosteroids for more than 3 years was associated with undergoing cataract extraction (odds ratio [OR], 3.06; 95% confidence interval [CI], 1.53-6.13). For high average daily doses of beclomethasone or budesonide (Ͼ1 mg), the OR was elevated after more than 2 years of treatment (OR, 3.40; 95% CI, 1.49-7.76), whereas for low to medium doses (Յ1 mg) of these drugs, the OR was 1.63 (95% CI, 0.85-3.13) after 2 years. Conclusion.-Prolonged administration of high doses of inhaled corticosteroids increases the likelihood of undergoing cataract extraction in elderly patients. Further studies are needed to investigate the risk of developing cataracts for low to medium doses over longer periods.

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Homozygous Factor v Leiden Mutation in a Child With Meningococcal Purpura Fulminans

Cited by 20 publications

References 9 publications

Outcome in children with purpura fulminans: Report on 16 patients

Outcome in children with purpura fulminans: Report on 16 patients

Adult Purpura Fulminans and Digital Necrosis Associated With Sepsis and the Factor V Mutation

Association of Inhaled Corticosteroid Use With Cataract Extraction in Elderly Patients

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