Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia.

Spence, Matthew W.; Clarke, Joe T.R.; D'entremont, D; Sapp, G A; Smith, E. R.; Goldbloom, A L; G, Davar

doi:10.1136/jmg.15.6.428

Cited by 18 publications

(11 citation statements)

References 17 publications

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“…Our findings confirm previous data and highlight the difficulties health care providers face in making an accurate prognosis for young patients on the basis of their family history.…”

Section: Discussionsupporting

confidence: 90%

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Intrafamilial phenotypic variability in four families with Anderson‐Fabry disease

et al. 2013

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We analysed the clinical history of 16 hemizygous males affected by Anderson-Fabry Disease, from four families, to verify their intrafamilial phenotypic variability. Seven male patients, ranging from 26 to 61 years of age, died, whereas nine (age range 23-55) are alive. Eleven patients have undergone enzyme replacement therapy (ERT) for a period of 5-10 years. We have found a wide range of intrafamilial phenotypic variability in these families, both in terms of target-organs and severity of the disease. Overall, our findings confirm previous data from the literature showing a high degree of intrafamilial phenotypic variability in patients carrying the same mutation. Furthermore, our results underscore the difficulty in giving accurate prognostic information to patients during genetic counselling, both in terms of rate of disease progression and involvement of different organs, when such prognosis is solely based on the patient's family history.

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“…Our findings confirm previous data and highlight the difficulties health care providers face in making an accurate prognosis for young patients on the basis of their family history.…”

Section: Discussionsupporting

confidence: 90%

“…Single large families with remarkable differences in severity of organ involvement irrespective of age have already been reported .…”

Section: Discussionmentioning

confidence: 99%

Intrafamilial phenotypic variability in four families with Anderson‐Fabry disease

et al. 2013

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“…Corneal verticillata and retinal vascular changes were also frequently observed. Conjunctival and retinal vessel tortuosities and corneal verticillata are frequently observed in Fabry disease, and are often the most common manifestations reported by many authors 2,9,11,13,18,24,25 . The incidence of lenticular changes is not consistently reported, but in ours and other large series, it is much less common than of corneal, conjunctival and retinal changes 2,9,25 .…”

Section: Discussionsupporting

confidence: 45%

Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre

Nguyen

Gin

Nicholls

et al. 2005

Clinical Exper Ophthalmology

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“…This data was counter to the existence of several very large families with males with many offspring that had been published in the clinical setting (Veronik et al 2004;Spence et al 1978).…”

Section: Introductionmentioning

confidence: 74%

The Impact of Fabry Disease on Reproductive Fitness

et al. 2017

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Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and increase the accuracy of reproductive genetic counseling, this study examines a large, multi-centered population of individuals with FD to determine if males have reduced reproductive fitness. Study data were collected on 376 patients through two, gender-specific surveys distributed across the United States and Canada. The number of biological live-born children among individuals with FD was compared to statistics from the general population. Information was also collected on reduced sperm count, depression, pain, use of assisted reproductive technology, and reproductive choice. On average, females affected by FD had more biological live-born children (1.8) than males affected by FD (1.1). However, males affected by FD had an increased mean number of biological children (1.1) compared to the mean number of biological children fathered by men in the United States (0.9). Sixteen of the 134 males with FD reported oligospermia, which suggests that an infertility work up may be indicated for males having difficulty impregnating their partners. In our large multicenter sample, males and females with FD do not exhibit reduced reproductive fitness; on average they have more biological children than the general population in the United States. This information should assist clinicians in providing accurate reproductive genetic counseling and treatment for individuals with FD.

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Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia.

Cited by 18 publications

References 17 publications

Intrafamilial phenotypic variability in four families with Anderson‐Fabry disease

Intrafamilial phenotypic variability in four families with Anderson‐Fabry disease

Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre

The Impact of Fabry Disease on Reproductive Fitness

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