Ocular involvement in familial erythrophagocytic lymphohistiocytosis

Park, James K.; Palexas, George N.; Streeten, Barbara W.; Green, W. Richard

doi:10.1007/bf00946941

Cited by 9 publications

(6 citation statements)

References 30 publications

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“…This makes sense, since the choroid is a richly vascularized tissue that is frequently involved in systemic inflammatory and neoplastic disorders. Other documented sites are the optic nerve, retina, vitreous, anterior chamber, and trabecular meshwork [26,27,29]. From our perspective, another interesting finding is that the ocular involvement in each of the cases we present displayed not only a bilateral distribution but was also symmetric in terms of severity in each eye.…”

Section: Discussionsupporting

confidence: 53%

“…Of interest, intraocular involvement is an uncommon presentation of HLH [17,18,19,20,21,22,23,24,25], and, to our knowledge, histologic findings have been previously illustrated only in a handful of cases , all of them pediatric at presentation (ranging in the age from 9 weeks to 7 years, median 2.1 years) (Table 3) [26,27,28,29]. Except for the adult onset, the clinical and histologic findings in our present cases are somewhat similar to those previously reported.…”

Section: Discussionmentioning

confidence: 99%

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Hemophagocytic Lymphohistiocytosis in Adults with Intraocular Involvement: Clinicopathologic Features of 3 Cases

Vizcaíno¹,

Eberhart²,

Rodríguez³

2017

Ocul Oncol Pathol

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Background/Aims: Hemophagocytic lymphohistiocytosis (HLH) is an infrequent inflammatory multisystemic syndrome. Only rare cases with ophthalmic involvement describing their pathologic features have been previously reported. Methods: We report 3 cases of adult-onset HLH with bilateral ocular involvement and describe their clinicopathologic features. Results: Three adult males - 2 with a history of viral infection - developed persistent fever, fatigue, bone marrow abnormalities, and irreversible multiorgan failure. Visual impairment was also documented in 2 cases. Complete autopsies were performed. Ophthalmic pathology demonstrated a bilateral histiocytic infiltrate with scant lymphocytes affecting the uvea. Focal extension to the retina, optic nerve, and trabecular meshwork were also identified, as well as hemophagocytosis in 1 case. Macrophages showed strong immunoreactivity for CD163 antibody and lacked BRAF p.V600E mutant protein. Conclusion: HLH is an unusual disorder associated with several systemic conditions. Histologic features in the eye are poorly documented, with prior reports restricted to children. Our 3 adult cases are reported using updated criteria and, despite the difference in age, show changes similar to those observed in the pediatric population.

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Section: Discussionsupporting

confidence: 53%

Section: Discussionmentioning

confidence: 99%

Hemophagocytic Lymphohistiocytosis in Adults with Intraocular Involvement: Clinicopathologic Features of 3 Cases

Vizcaíno¹,

Eberhart²,

Rodríguez³

2017

Ocul Oncol Pathol

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“…Autopsy evaluations have identified lymphohistiocytic infiltration of the optic nerve, iris, choroids, and perivascular structures in other patients. [7][8][9] Retinal hemorrhages, often considered 1 of the hallmarks of shaken infant syndrome, were misleading in the cases presented here. Our first patient presented with several findings characteristic of abuse but were most likely from CNS HLH.…”

Section: Discussionmentioning

confidence: 71%

“…[7][8][9][10][11] Liao and Thompson 10 described a case of a teenage boy who presented with fever and visual disturbances. On examination, he was found to have scattered flame hemorrhages, which subsequently resolved as the patient was treated for HLH.…”

Section: Discussionmentioning

confidence: 99%

Hemophagocytic Lymphohistiocytosis Masquerading as Child Abuse: Presentation of Three Cases and Review of Central Nervous System Findings in Hemophagocytic Lymphohistiocytosis

Rooms

Fitzgerald²,

McClain

2003

Pediatrics

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ABSTRACT. Hemophagocytic lymphohistiocytosis (HLH)is a rare disease resulting from abnormal proliferation of histiocytes in tissues and organs. Although the disease generally presents with systemic symptoms such as pancytopenia, coagulopathy, and organomegaly, HLH may also present with central nervous system (CNS) manifestations. CNS events can range from irritability to encephalopathy and coma. Retinal and intracranial hemorrhages are among the neuropathologic findings in these children. Patients who present with CNS findings may have symptoms that mimic those of inflicted injury. These children are at risk, therefore, for misdiagnosis as victims of child abuse. Such an error causes not only unnecessary additional trauma to the family but also, more important, a delay in initiating effective therapy. We present 3 cases of children with HLH who initially came to medical attention with neurologic findings, all suspected to be victims of child abuse. Subsequent laboratory evaluations, however, were consistent with the diagnosis of HLH. No additional evidence of child abuse was obtained, and the charges eventually were dropped. Two of the 3 children died from their disease shortly after presentation; the third is surviving with no evidence of HLH several months after allogeneic bone marrow transplantation. Although the diagnosis of child abuse certainly is all too common, clinicians need to be diligent and informed to avoid assigning this label erroneously. Several laboratory findings of HLH may alert physicians to the possibility of this diagnosis. The timely diagnosis of and institution of therapy for HLH may reduce ultimate morbidity and mortality. Pediatrics 2003;111:e636 -e640. URL: http://www.pediatrics.org/cgi/content/full/111/5/e636; child abuse, hemophagocytic lymphohistiocytosis.

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“…65 Retinal hemorrhages, swelling of the optic nerve, and infiltration of the choroid have been reported in infants with HLH. [66][67][68] Diffuse peripheral neuropathy with pain and weakness secondary to myelin destruction by macrophages may also occur. 69,70 Treating HLH Without therapy, survival of patients with active familial HLH is ϳ 2 months.…”

Section: Brain Ophthalmic and Neuromuscular Symptomsmentioning

confidence: 99%

How I treat hemophagocytic lymphohistiocytosis

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Allen

Weitzman

et al. 2011

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Ocular involvement in familial erythrophagocytic lymphohistiocytosis

Abstract: The findings of this study further define the ocular pathologic features of FEL, which are a part of a generalized, multiorgan disseminated disease.

Cited by 9 publications

References 30 publications

Hemophagocytic Lymphohistiocytosis in Adults with Intraocular Involvement: Clinicopathologic Features of 3 Cases

Hemophagocytic Lymphohistiocytosis in Adults with Intraocular Involvement: Clinicopathologic Features of 3 Cases

Hemophagocytic Lymphohistiocytosis Masquerading as Child Abuse: Presentation of Three Cases and Review of Central Nervous System Findings in Hemophagocytic Lymphohistiocytosis

How I treat hemophagocytic lymphohistiocytosis

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