Information on FHL4
Basic details
Name: Hemophagocytic lymphohistiocytosis, familial, 4 | Acronym: FHL4
Alt. names: familial hemophagocytic lymphohistiocytosis 4
Gene: STX11 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2005
Last updated on: 2023-02-28 16:41:18 by
Description
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 hematopoietic cell transplantation (HCT), the only curative therapy.. Some individuals have been described as having remission without treatment; It has been suggested that mutations may also confer risk for other malignancies.. Refs. PMIDs: 15703195; 16278825; 16582076; 24459464
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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 | Hypertriglyceridemia |
31 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Hypofibrinogenemia |
29 (93.6%) | 0 (0.0%) | 2 (6.5%) |
| 3 | Fever |
24 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Hepatomegaly |
21 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Splenomegaly |
21 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Hemophagocytosis |
18 (85.7%) | 0 (0.0%) | 3 (14.3%) |
| 7 | Recurrent fevers |
14 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 8 | Hyperferritinemia |
13 (92.9%) | 0 (0.0%) | 1 (7.1%) |
| 9 | Infantile onset |
11 (39.3%) | 0 (0.0%) | 17 (60.7%) |
| 10 | Jaundice |
8 (57.1%) | 0 (0.0%) | 6 (42.9%) |
| 11 | Lymphadenopathy |
8 (61.5%) | 0 (0.0%) | 5 (38.5%) |
| 12 | Anemia |
7 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 13 | Thrombocytopenia |
6 (85.7%) | 0 (0.0%) | 1 (14.3%) |
| 14 | Childhood onset |
5 (35.7%) | 0 (0.0%) | 9 (64.3%) |
| 15 | edema |
5 (35.7%) | 0 (0.0%) | 9 (64.3%) |
| 16 | Neutropenia |
5 (71.4%) | 0 (0.0%) | 2 (28.6%) |
| 17 | Skin rash |
5 (35.7%) | 0 (0.0%) | 9 (64.3%) |
| 18 | Conjunctivitis |
1 (14.3%) | 0 (0.0%) | 6 (85.7%) |
| 19 | Global developmental delay |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
| 20 | Seizures |
1 (7.1%) | 0 (0.0%) | 13 (92.9%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
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.