Information on FHL2
Basic details
Name: Hemophagocytic lymphohistiocytosis, familial, 2 | Acronym: FHL2
Alt. names: Familial Hemophagocytic lymphohistiocytosis 2 | Perforin deficiency
Gene: PRF1 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1999
Last updated on: 2023-02-28 16:41:18 by
Description
In Lymphoma, non-Hodgkin; Aplastic anemia, adult-onset, surveillance and early treatment of hematologic (eg, anemia, bone marrow failure) and malignant complications may reduce morbidity; In Hemophagocytic lymphohistiocytosis, familial, 2 (as well as Immune-mediated neurodegeneration, infection triggered, at least theoretically), antibiotics or antiviral agents can be beneficial to treat/prevent infections that can trigger an exaggerated inflammatory response; Chemo/immunotherapy can achieve clinical stability prior to allogeneic HSCT, which can be effective. Individuals with Aplastic anemia, adult-onset may have manifestations after the pediatric period. Refs. PMIDs: 10583959; 12229880; 12358924; 14757862; 15659737; 17311987; 15728124; 17873118; 21936944; 21959744; 22029169; 22186995; 22359105; 23443029
Management
Description of management option has not been reviewed yet.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Splenomegaly |
109 (98.2%) | 0 (0.0%) | 2 (1.8%) |
| 2 | Fever |
102 (97.1%) | 0 (0.0%) | 3 (2.9%) |
| 3 | Thrombocytopenia |
88 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Hypofibrinogenemia |
86 (84.3%) | 0 (0.0%) | 16 (15.7%) |
| 5 | Hemophagocytosis |
85 (87.6%) | 0 (0.0%) | 12 (12.4%) |
| 6 | Hypertriglyceridemia |
81 (78.6%) | 0 (0.0%) | 22 (21.4%) |
| 7 | Anemia |
79 (92.9%) | 0 (0.0%) | 6 (7.1%) |
| 8 | Hyperferritinemia |
65 (91.6%) | 0 (0.0%) | 6 (8.5%) |
| 9 | Lymphadenopathy |
36 (36.7%) | 0 (0.0%) | 62 (63.3%) |
| 10 | Reduced natural killer cell activity |
26 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 11 | CSF pleocytosis |
25 (51.0%) | 0 (0.0%) | 24 (49.0%) |
| 12 | Infantile onset |
23 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Skin rash |
22 (26.2%) | 0 (0.0%) | 62 (73.8%) |
| 14 | Jaundice |
19 (90.5%) | 0 (0.0%) | 2 (9.5%) |
| 15 | Hepatomegaly |
14 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 16 | edema |
3 (33.3%) | 0 (0.0%) | 6 (66.7%) |
| 17 | Elevated hepatic transaminases |
3 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 18 | Hepatosplenomegaly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 19 | Pancytopenia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 20 | Recurrent fevers |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 21 | Ataxia |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 22 | CNS demyelination |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 23 | Increased CSF protein |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 24 | Pseudotumor Cerebri |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 25 | Increased total bilirubin |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.