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hemophagocytic lymphohistiocytosis
ICD-10 Codes
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Description
Hemophagocytic Lymphohistiocytosis (HLH): A Rare and Devastating Condition
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal condition in which certain white blood cells, known as histiocytes and lymphocytes, build up in and damage organs [5]. This overactive immune response can lead to multi-organ failure and death if left untreated [3].
What Causes HLH?
HLH can be either acquired or genetic. In the acquired form, the condition is caused by an abnormal response of the immune system to a foreign invader, such as a virus [4]. The genetic form, on the other hand, is inherited and results from mutations in genes that regulate the immune response [7].
Symptoms of HLH
The symptoms of HLH can vary depending on the severity of the condition. Common symptoms include:
- Persistent fevers
- Rash
- Yellowish-looking skin and eyes (jaundice)
- Coughing, trouble breathing
- Seizures
- Altered mental status [6]
Consequences of Untreated HLH
If left untreated, HLH can lead to severe consequences, including multi-organ failure, respiratory distress, and even death [3]. Early diagnosis and treatment are crucial in preventing these complications.
References:
[1] S Konkol (2023) - Hemophagocytic lymphohistiocytosis (HLH): A devastating, hyper-inflammatory condition that results in multi-organ failure and death. [2] Oct 13, 2022 - HLH causes your immune system to attack your body instead of a foreign invader like a virus. The condition is either acquired or genetic and... [3] by S Konkol · 2023 · Cited by 14 — Hemophagocytic lymphohistiocytosis (HLH) is a devastating, hyper-inflammatory condition that results in multi-organ failure and death. [4] Oct 13, 2022 - HLH causes your immune system to attack your body instead of a foreign invader like a virus. The condition is either acquired or genetic and... [5] HLH is a rare but potentially fatal condition in which certain white blood cells (histiocytes and lymphocytes) build up in and damage organs. [6] What are the Symptoms of HLH? · Persistent fevers · Rash · Yellowish-looking skin and eyes (jaundice) · Coughing, trouble breathing · Seizures · Altered mental status. [7] by KL McClain · Cited by 69 — Hemophagocytic lymphohistiocytosis (HLH) is an aggressive and life-threatening syndrome of excessive immune activation. It most frequently... [8] Jul 19, 2024 - Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease of normal but overactive histiocytes and lymphocytes that commonly appears in... [9] Dec 13, 2018 - Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening condition caused by an overactive, abnormal response of the immune system.
Additional Characteristics
- Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal condition in which certain white blood cells, known as histiocytes and lymphocytes, build up in and damage organs.
- HLH can be either acquired or genetic. In the acquired form, the condition is caused by an abnormal response of the immune system to a foreign invader, such as a virus.
- If left untreated, HLH can lead to severe consequences, including multi-organ failure, respiratory distress, and even death.
- The symptoms of HLH can vary depending on the severity of the condition. Common symptoms include: Persistent fevers, Rash, Yellowish-looking skin and eyes (jaundice), Coughing, trouble breathing, Seizures, Altered mental status
Signs and Symptoms
Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening condition characterized by an overactive immune response. The signs and symptoms of HLH can vary, but common manifestations include:
- Fever: A persistent fever that lasts for more than a week is often one of the first symptoms of HLH [1].
- Enlarged liver (hepatomegaly): The liver may become enlarged due to inflammation and accumulation of immune cells [4].
- Swollen lymph nodes (lymphadenopathy): Lymph nodes in various parts of the body, such as the neck, armpits, or groin, may become swollen and tender [2][5].
- Skin rashes: A rash can appear on the skin due to inflammation and immune cell activation [3].
- Jaundice (yellowish color of the skin and eyes): The yellowing of the skin and eyes is a sign of liver irritation and dysfunction [8].
- Lung problems: Respiratory issues, such as coughing or trouble breathing, can occur due to inflammation in the lungs [3].
- Neurological abnormalities: In some cases, HLH can affect the brain, leading to seizures, altered mental status, or other neurological symptoms [6][7].
Additionally, a reduction in platelets may cause easy bruising and abnormal bleeding, while the brain may also be affected in familial hemophagocytic lymphohistiocytosis [6]. It's essential to seek medical attention immediately if you suspect someone has HLH, as prompt treatment is crucial for survival.
References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8
Additional Symptoms
- Skin rashes
- Enlarged liver (hepatomegaly)
- Swollen lymph nodes (lymphadenopathy)
- Jaundice (yellowish color of the skin and eyes)
- Lung problems
- Neurological abnormalities
- fever
Diagnostic Tests
Diagnostic Tests for Hemophagocytic Lymphohistiocytosis (HLH)
Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening condition that requires prompt diagnosis and treatment. The diagnostic process involves a combination of clinical evaluation, laboratory tests, and imaging studies.
Laboratory Tests
Several laboratory tests are used to diagnose HLH:
- NK cell function test: This test measures the activity of natural killer (NK) cells, which are often decreased in patients with HLH. A NK cell number is usually not diagnostic, but a low NK cell count can be indicative of HLH [2].
- Ferritin level: Elevated ferritin levels are common in HLH, and a ferritin above 10,000 μg/L is very sensitive and specific for the diagnosis of HLH [10].
- Liver function tests: These tests are often elevated in patients with HLH.
- Serum C-reactive protein (CRP): Elevated CRP levels can indicate an inflammatory response, which is a hallmark of HLH.
Imaging Studies
Imaging studies may be used to rule out other conditions that may present similarly to HLH:
- Bone marrow biopsy: This test involves taking a sample of bone marrow and examining it under a microscope. The bone marrow may show hemophagocytosis, which is a characteristic
Additional Diagnostic Tests
- Liver function tests
- NK cell function test
- Ferritin level
- Serum C-reactive protein (CRP)
- Bone marrow biopsy
Treatment
Treatment Options for Hemophagocytic Lymphohistiocytosis (HLH)
Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening disorder that requires prompt treatment. The primary goal of therapy is to control the excessive immune activation, reduce inflammation, and prevent organ damage.
Initial Therapy
The initial treatment for HLH typically involves a combination of medications, including:
- Etoposide: A chemotherapy drug that helps to suppress the immune system [4].
- Dexamethasone: A corticosteroid that reduces inflammation and suppresses the immune response [3][4].
These medications are usually administered for 8 weeks in varying doses, as described in the HLH-94 protocol [6].
Additional Treatment Options
In some cases, additional treatments may be necessary to manage HLH. These can include:
- Emapalumab (Gamifant): A monoclonal antibody that targets and neutralizes interferon gamma, a key player in the immune response [5][8].
- Alemtuzumab: An anti-CD52 antibody used to treat relapsed or refractory HLH [10].
Treatment Considerations
It's essential to note that treatment for HLH depends on the underlying cause of the disorder. In some cases, addressing the underlying condition may be necessary before initiating specific treatments.
References
- [3] Schram AM (2015) Treatment of Hemophagocytic Lymphohistiocytosis.
- [4] Jul 19, 2024 - Initial therapy in patients with hemophagocytic lymphohistiocytosis (HLH).
- [5] Drugs used to treat Hemophagocytic Lymphohistiocytosis; Generic name: emapalumab systemic.
- [6] Jordan MB (2011) The HLH-94 protocol.
- [8] Nov 20, 2018 - FDA approval of emapalumab for adult and pediatric patients with primary HLH.
- [10] Treatment of hemophagocytic lymphohistiocytosis (HLH) has been developed primarily in pediatric centers.
Recommended Medications
- Emapalumab (Gamifant)
- Alemtuzumab
- etoposide
- Etoposide
- dexamethasone
- Dexamethasone
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease, and its differential diagnosis is crucial for accurate treatment. Here are some conditions that should be considered in the differential diagnosis of HLH:
- Viral encephalitis: This condition can present with similar neurological symptoms as HLH, such as seizures, confusion, and altered mental status [8].
- Autoimmune disseminated encephalomyelitis: This is a rare autoimmune disorder that can cause inflammation in the brain and spinal cord, leading to symptoms similar to those of HLH [8].
- Malignancy: Certain types of cancer, such as lymphoma or leukemia, can present with symptoms similar to HLH, including cytopenias, organ dysfunction, and coagulopathy [6].
- Bone marrow disorders: Conditions like bone marrow failure or aplastic anemia can lead to cytopenias and other symptoms that may be mistaken for HLH [6].
- Metabolic diseases: Certain metabolic disorders, such as hemochromatosis or acute liver failure, can present with similar symptoms to HLH, including organ dysfunction and coagulopathy [9].
- Primary immunodeficiencies: Some primary immunodeficiencies, such as severe combined immunodeficiency (SCID), can increase the risk of developing HLH due to impaired immune function [10].
It's essential to note that a definitive diagnosis of HLH requires a combination of clinical findings, laboratory tests, and histopathological examination. A thorough evaluation by a multidisciplinary team of healthcare professionals is necessary to rule out these differential diagnoses and confirm the diagnosis of HLH.
References:
[8] Ponnatt TS (2022) Cited by 110 - Differential diagnosis in HLH producing isolated central nervous system disease includes viral encephalitis,84 autoimmune disseminated ...
[6] Kim YR (2021) Cited by 67 - Diagnostic workup to differentiate hemophagocytic lymphohistiocytosis from other diseases.. Differential diagnosis, Tests. Malignancy, Bone ...
[9] Shieh AC (2020) Cited by 16 - Hepatitis, acute liver failure, hemochromatosis, and metabolic diseases should be considered in the differential diagnosis with regard to liver involvement.
[10] Bode SFN (2015) Cited by 184 - The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.
Additional Differential Diagnoses
- Hermansky-Pudlak syndrome 5
- X-linked lymphoproliferative syndrome 2
- T cell and NK cell immunodeficiency
- multisystem inflammatory syndrome in children
- autoimmune lymphoproliferative syndrome type 3
- familial hemophagocytic lymphohistiocytosis 3
- Metabolic diseases
- Malignancy
- Autoimmune disseminated encephalomyelitis
- Bone marrow disorders
- Primary immunodeficiencies
- viral encephalitis
Additional Information
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- haemophagocytic syndrome
- rdf-schema#label
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- rdf-schema#comment
- Xref MGI. MESH:C537250 added from NeuroDevNet [WAK].
- IAO_0000115
- A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages.
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