Angiokeratoma Corporis Diffusum Universale (Fabry's Disease)

Duncan, C. R.; McLeod, Graham M.

doi:10.1111/imj.1970.19.1.58

Cited by 5 publications

(3 citation statements)

References 8 publications

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“…A number of autopsy and pathological reports of patients with Fabry disease have been published [6,7,10,20,21]. The pathological findings in this patient showed an almost complete absence of glycolipid deposits in vascular endothelial cells attributable to the agalsidase beta infusions.…”

Section: Discussionmentioning

confidence: 75%

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

et al. 2005

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We describe the postmortem findings of a 47-year-old man with Fabry disease, an X-linked glycolipid storage disorder, who was on enzyme replacement therapy with recombinant α-galactosidase A for more than 2 years. The patient had widespread atherosclerotic coronary artery disease that culminated in a massive acute myocardial infarction. Atherosclerotic lesions were seen in the right and left coronary systems, aorta, and the basilar artery. Typical Fabry cardiomyopathy and glomerular nephropathy were found. With the exception of vascular endothelial cells, extensive glycolipid storage deposits were seen in all vascular and nonvascular cells and organ systems. We conclude that, at least in this patient, repeated infusions with α-galactosidase A over a prolonged period did not appreciably clear storage material in cells other than vascular endothelial cells. These findings also illustrate accelerated atherosclerosis in susceptible patients with Fabry disease.

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Section: Discussionmentioning

confidence: 75%

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

et al. 2005

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“…3) similar to that seen in type II glycogenosis. By electron microscopy the ceramide trihexoside deposits form intralysosomal aggregates of concentric or parallel lamellae spaced 4 to 5.5 nm apart [48][49][50]. The lamellar structures of the deposits are best seen on freeze-fractured preparations [50].…”

Section: Fabry Diseasementioning

confidence: 99%

Nonmalformative Cardiovascular Pathology in Infants and Children

Gilbert‐Barness

Barness

1999

Pediatr Dev Pathol

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“…This results in the histologic appearance of a lacework pattern similar to that seen in type I1 glycogenosis. Ultrastructurally, the storage material is deposited in lysosomes with concentric or parallel lamellae with a periodicity of 4 to 5.5 nm [Ferrans et al, 1969;Becker et al, 1975;Duncan and McLeod, 1970;Matsui et al, 1977;Roth and Roth, 19781. The lamellae react positively with periodate-thiosemicarbazide silver proteinate [Ferrans and Buja, 19721 and periodate-thiosemicarbazide-osmium tetroxide [van Mullem and Ruiter, 19681.…”

Section: Similar Pathological Changes In the Kidney With Accumulationmentioning

confidence: 99%

Clinicopathological conference: A 29‐yr‐old man with recurrent episodes of fever, abdominal pain, and vomiting

et al. 1984

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A 29-yr-old man was admitted to the hospital because of fever, abdominal pain, nausea, and vomiting of 2 days' duration.The abdominal pain was colicky in character; it did not radiate to the back or flanks; there were no aggravating or relieving factors. He vomited 8-10 times daily a mixture of food and bile. He had 3-4 loose stools per day which did not contain blood or mucous. There was no hematemesis, melena, or hematochezia. The fever was remittent, the highest temperature spikes rising to 103°F; there were no accompanying chills or rigors.He had been hospitalized several times in the past with similar symptoms, which invariably abated 5 days after admission. Multiple laboratory tests and biopsies had been done during these hospitalizations. He had palpably enlarged cervical lymph nodes. A cervical lymph node biopsy showed an increased number of histiocytes with strongly PAS-positive granules. He had persistent normochromic normocytic anemia; serum iron levels and total iron binding capacity were low; two bone marrow biopsies were done, one of which showed diminished iron stores; the stool was guaiac negative; there was no hematuria; the reticulocyte count, serum haptoglobin, and

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Angiokeratoma Corporis Diffusum Universale (Fabry's Disease)

Cited by 5 publications

References 8 publications

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

Nonmalformative Cardiovascular Pathology in Infants and Children

Clinicopathological conference: A 29‐yr‐old man with recurrent episodes of fever, abdominal pain, and vomiting

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