Primary hemophagocytic lymphohistiocytosis (HLH)
About
Primary HLH is caused by mutations in genes such as PFR1, UNC13D, and STX11, which lead to defective cytotoxic functions and triggers excessive inflammatory responses. It's a life-threatening emergency. Core dilemmas: ① The onset of the disease is acute and can rapidly progress to multiple organ failure;② Emergency chemotherapy (etoposide + dexamethasone) is needed to control inflammation;③ Allogeneic transplantation is the only radical cure, but it needs to be carried out after the disease is controlled;④ Delayed diagnosis and treatment mortality rates are extremely high.
Features & Symptoms
- Mutation of immunoregulatory gene
- excessive inflammatory response
- Fever, splenomegaly, cytopenia
- Can rapidly progress to multiple organ failure
Treatment Options
| Treatment | Description | Stage | Price Range |
|---|---|---|---|
| HLH-94/2004 protocol + allogeneic transplantation | Allogeneic transplantation after etoposide + dexamethasone chemotherapy is currently the standard treatment. | 临床应用 | $400K - $1M（含移植） |
| Alemtuzumab | Anti-CD52 monoclonal antibody, used for salvage treatment or pre-transplant pretreatment of refractory HLH. | 临床应用 | $100K - $300K/疗程 |
| Emapalumab（Gamifant） | Anti-IFN-γ monoclonal antibody was approved by the FDA in 2018 for refractory HLH. | FDA批准 | $500K - $1M/疗程 |
Prognosis
The mortality rate in untreated patients is extremely high, and the 5-year survival rate after transplantation is approximately 70%
Additional Notes
Notes: Emergency treatment: The HLH-94/2004 protocol should be started immediately after diagnosis (Dexamethasone +VP-16+ cyclosporine), the mortality rate for delayed treatment is extremely high; transplant evaluation: The indications for hematopoietic stem cell transplantation should be evaluated as soon as possible after disease control. Transplantation is the only method that may cure primary HLH; Ferritin monitoring: Serum ferritin is an important marker of HLH activity and requires dynamic monitoring; Neurological system assessment: Regular cerebrospinal fluid examinations and cranial MRI are required to assess central nervous system involvement;Emapalumab: It is approved for refractory primary HLH and can be used as a bridging treatment. Exclusive service commitment: The platform will allocate a dedicated medical team to each patient to assist in dismantling and properly deploying the following precautions throughout the process. When cross-state and cross-border diagnosis and treatment projects or drugs are involved, the platform will make overall arrangements for the entire docking; for disabled and semi-disabled patient groups, the platform will provide rush-free alternative solutions (including remote consultation, door-to-door sampling, direct drug delivery in the cold chain, etc.), to ensure that patients can get the same high-quality diagnosis and treatment resources without having to travel in person.; Study phase: FDA approval. Prognosis: The mortality rate in untreated patients is extremely high, and the 5-year survival rate after transplantation is about 70%.
Frequently Asked Questions
What is Primary hemophagocytic lymphohistiocytosis (HLH)?
Primary HLH is caused by mutations in genes such as PFR1, UNC13D, and STX11, which lead to defective cytotoxic functions and triggers excessive inflammatory responses. It's a life-threatening emergency. Core dilemmas: ① The onset of the disease is acute and can rapidly progress to multiple organ failure;② Emergency chemotherapy (etoposide + dexamethasone) is needed to control inflammation;③ Allogeneic transplantation is the only radical cure, but it needs to be carried out after the disease is controlled;④ Delayed diagnosis and treatment mortality rates are extremely high.
What are the symptoms of Primary hemophagocytic lymphohistiocytosis (HLH)?
Mutation of immunoregulatory gene,excessive inflammatory response,Fever, splenomegaly, cytopenia,Can rapidly progress to multiple organ failure
How is Primary hemophagocytic lymphohistiocytosis (HLH) treated?
HLH-94/2004 protocol + allogeneic transplantation: Allogeneic transplantation after etoposide + dexamethasone chemotherapy is currently the standard treatment.; Alemtuzumab: Anti-CD52 monoclonal antibody, used for salvage treatment or pre-transplant pretreatment of refractory HLH.; Emapalumab（Gamifant）: Anti-IFN-γ monoclonal antibody was approved by the FDA in 2018 for refractory HLH.
What is the prognosis for Primary hemophagocytic lymphohistiocytosis (HLH)?
The mortality rate in untreated patients is extremely high, and the 5-year survival rate after transplantation is approximately 70%