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lymphoproliferative syndrome
ICD-10 Codes
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Description
Lymphoproliferative Syndrome: A Rare Immune Disorder
Lymphoproliferative syndrome, also known as Autoimmune Lymphoproliferative Syndrome (ALPS), is a rare genetic disorder that affects the immune system. It is characterized by an excessive production of lymphocytes, a type of white blood cell, leading to their accumulation in the spleen and lymph nodes [7][8].
Key Features
- Uncontrolled lymphocyte production: ALPS is marked by an abnormal increase in the number of lymphocytes, which can lead to their accumulation in various parts of the body [2][4].
- Enlarged lymph nodes and spleen: One of the primary symptoms of ALPS is the enlargement of lymph nodes and the spleen, which can be severe in children with the condition [5][6].
- Immune system dysfunction: The disorder affects the immune system's ability to regulate the production of lymphocytes, leading to an uncontrolled proliferation of these cells.
Symptoms
- Swollen lymph nodes in the neck, armpit, or groin
- A larger than normal spleen
- Tiredness/fatigue
- Other symptoms may include fever, weight loss, and abdominal pain [5]
Causes and Risk Factors
ALPS is a rare genetic disorder that can be inherited from one's parents. It is caused by mutations in genes that regulate the production of lymphocytes, leading to an uncontrolled proliferation of these cells.
References
[1] Not provided (no relevant information found)
[2] Dec 1, 2018 - ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation).
[3] Not provided (no relevant information found)
[4] Dec 19, 2023 - Lymphoproliferative disorders are a group of diseases that cause an uncontrolled production of lymphocytes, a type of white blood cell.
[5] Signs and symptoms of Autoimmune Lymphoproliferative Syndrome · Swollen lymph nodes in the neck, armpit, or groin · A larger than normal spleen · Tiredness/fatigue ...
[6] Apr 19, 2019 - The main lymphoproliferative symptoms in ALPS are enlarged lymph nodes and spleen.
[7] Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder associated with an excessive number of lymphocytes (lymphoproliferation), leading to ...
[8] by T Zebra - ALPS is a rare genetic disorder in which lymphocytes, a type of white blood cell, increase and accumulate in the spleen and lymph nodes.
[9] Not provided (no relevant information found)
Additional Characteristics
- Autoimmune Lymphoproliferative Syndrome (ALPS)
- Swollen lymph nodes in the neck, armpit, or groin
- Immune system dysfunction
- Lymphoproliferative syndrome
- Uncontrolled lymphocyte production
- Enlarged lymph nodes and spleen
- A larger than normal spleen
- fatigue
Signs and Symptoms
Lymphoproliferative syndrome, also known as lymphoproliferative disorder, is a group of conditions characterized by the abnormal growth and proliferation of lymphocytes (a type of white blood cell). The signs and symptoms of this condition can vary depending on the specific type and severity of the disease. However, some common symptoms include:
- Swollen lymph nodes: Enlarged lymph nodes in the neck, armpit, and groin are a hallmark symptom of lymphoproliferative syndrome (1).
- Enlarged liver and spleen: The liver and spleen may become enlarged due to the accumulation of abnormal lymphocytes (2).
- Fatigue: Many people with lymphoproliferative syndrome experience fatigue, which can be severe in some cases (3).
- Fever: Fever is another common symptom, often accompanied by other signs of infection (4).
- Weight loss: Unintentional weight loss is a frequent complaint among individuals with this condition (2).
- Anemia: Anemia, characterized by low red blood cell count or hemoglobin levels, can occur due to the abnormal proliferation of lymphocytes (4).
- Weakness: Generalized weakness and pallor are also common symptoms (5).
- Splenomegaly and hepatomegaly: Enlargement of the spleen and liver may be observed in some cases (4).
- Elevated white blood cell counts: Abnormal lymphocyte proliferation can lead to elevated white blood cell counts, which is a key diagnostic feature (6).
It's essential to note that not everyone with lymphoproliferative syndrome will exhibit all of these symptoms. The severity and progression of the disease can vary significantly from person to person.
References: (1) Apr 19, 2019 — (2) Jun 14, 2024 — (3) Dec 1, 2018 — (4) Dec 19, 2023 — (5) Symptoms may include skin rashes, panniculitis, arthritis, inflammation of blood vessels (vasculitis), mouth sores, premature ovarian failure, and the ... (6) You or your physician can detect this activation by noticing enlarged lymph nodes on a physical exam or by a blood test indicating increased lymphocyte numbers.
Additional Symptoms
- Swollen lymph nodes
- Enlarged liver and spleen
- Splenomegaly and hepatomegaly
- Elevated white blood cell counts
- weight loss
- anemia
- fever
- weakness
- fatigue
Diagnostic Tests
Lymphoproliferative syndrome, also known as autoimmune lymphoproliferative syndrome (ALPS), is a rare disorder characterized by the abnormal growth and accumulation of lymphocytes in various parts of the body. Diagnostic tests for ALPS are crucial to confirm the diagnosis and rule out other conditions.
Physical Examination and Blood Tests
A physical examination may reveal enlarged lymph nodes, spleen, or liver, which can be indicative of lymphoproliferation [3][5]. Blood tests can help detect markers such as:
- Elevated peripheral blood double-negative T cells (DNTs) [7]
- Increased lymphocyte numbers [5]
- Elevated plasma interleukin-10 (IL-10) and interleukin-18 (IL-18) levels [14]
Molecular Pathologic Testing
Molecular testing plays a significant role in diagnosing ALPS, particularly when the diagnosis is inconclusive. This may involve:
- Genetic tests to identify mutations or alterations in genes such as FAS, FASLG, and TNFRSF6 [10]
- Protein tests to detect abnormal protein expression [12]
Fine-Needle Aspiration (FNA) Biopsy
A multiparameter approach is essential for diagnosing lymphoproliferative disorders using FNA biopsy. This may involve examining the morphology of lymphocytes, assessing apoptosis, and evaluating molecular markers [8].
Additional Diagnostic Criteria
The revised diagnostic criteria for ALPS include:
- Chronic non-malignant lymphoproliferation (lymphadenopathy or splenomegaly over six months) [7]
- Elevated peripheral blood DNTs [7]
These diagnostic tests can help confirm the diagnosis of lymphoproliferative syndrome and guide treatment decisions.
References: [3] - September 27, 2022 [5] - September 10, 2024 [7] - July 27, 2019 [8] - by NP Caraway · 2005 · Cited by 94 [10] - by YK Jeon · 2017 · Cited by 12 [12] - This involves doing genetic tests and protein tests, usually with a blood sample. These tests can help confirm the diagnosis. It can also help the doctor ... [14] - Apr 19, 2024
Additional Diagnostic Tests
- Elevated peripheral blood double-negative T cells (DNTs)
- Increased lymphocyte numbers
- Elevated plasma interleukin-10 (IL-10) and interleukin-18 (IL-18) levels
- Genetic tests to identify mutations or alterations in genes such as FAS, FASLG, and TNFRSF6
- Protein tests to detect abnormal protein expression
- Fine-Needle Aspiration (FNA) Biopsy to examine the morphology of lymphocytes, assess apoptosis, and evaluate molecular markers
- Chronic non-malignant lymphoproliferation (lymphadenopathy or splenomegaly over six months)
- Elevated peripheral blood DNTs
Treatment
Lymphoproliferative syndrome, also known as autoimmune lymphoproliferative syndrome (ALPS), is a rare genetic disorder characterized by the abnormal growth and accumulation of lymphocytes in various organs.
Treatment Options:
- Immunosuppressants: These medications can help reduce the immune system's overactivity and prevent further lymphocyte accumulation. Examples include corticosteroids, immunoglobulins, and sirolimus (rapamycin) [2][6].
- Chemotherapy: In some cases, chemotherapy may be used to kill or slow down the growth of cancerous lymphocytes [7].
- Stem cell transplantation: This is a more aggressive treatment option that involves replacing the patient's immune system with healthy stem cells. It is often considered for patients with severe disease or those who have not responded to other treatments [8].
Specific Therapies:
- Corticosteroids and immunoglobulins are commonly used as first-line treatments, especially in cases of symptomatic lymphoproliferation [4].
- Sirolimus (rapamycin) has been shown to be effective in reducing adenopathy and spleen size in some patients with ALPS [6].
Important Considerations:
- Treatment outcomes can vary depending on the individual patient's condition, age, and overall health.
- Hematopoietic stem cell transplantation is a treatment option for X-linked lymphoproliferative syndrome, but it carries significant risks and should be considered carefully [8].
- The effectiveness of these treatments may also depend on the specific genetic mutations underlying the disease.
References:
[1] Agents used to treat autoimmune lymphoproliferative syndrome (ALPS) include immunosuppressants and immune globulins. [2] For patients with more aggressive disease or in those with symptomatic lymphoproliferation, we use sirolimus as first line. [3] The first-line treatment often includes corticosteroids and immunoglobulin administered through an IV. [4] Using the immunosuppressive medication, rapamycin (sirolimus), both adenopathy and the spleen size can be reduced in MRL/lpr−/− mice and ALPS patients. [5] Treatment · Chemotherapy: These powerful drugs kill or slow the growth of cancerous lymphocytes. · Stem cell transplantation: Specialized stem cells are used to replace the patient's immune system. [6] Treatment of X-linked lymphoproliferative syndrome is hematopoietic stem cell transplantation. Approximately 75% of patients die by age 10 years, and all die by adulthood. [7] Our approach · - Specific therapies · Lymphoproliferation · - Our approach · - Specific agents.
Recommended Medications
- Chemotherapy
- Immunosuppressants
- Stem cell transplantation
💊 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
The differential diagnosis for lymphoproliferative syndromes (LPS) involves a broad range of conditions that can present with similar symptoms and clinical findings.
Key Considerations
- Autoimmune Lymphoproliferative Syndrome (ALPS): Characterized by nonmalignant lymphadenopathy, splenomegaly, and autoimmune cytopenias [4].
- Infection: Self-limited viral infections can mimic ALPS, making differential diagnosis challenging [3].
- Other Inherited Immunodeficiency Disorders: Conditions such as FADD deficiency, Common Variable Immunodeficiency (CVID), CTLA-4 haploinsufficiency with autoimmune infiltration (CHAI) disease, and STAT3 gain-of-function mutations should be considered in the differential diagnosis of ALPS [9].
- Primary and Secondary Autoimmune Syndromes: These conditions can also present with lymphadenopathy and splenomegaly, making them part of the differential diagnosis for LPS.
- Lymphoma: A malignant condition that can mimic nonmalignant lymphoproliferative disorders, highlighting the importance of thorough diagnostic workup.
Differential Diagnosis
The differential diagnosis for ALPS includes:
- Infection
- Other inherited immunodeficiency disorders (e.g., FADD deficiency, CVID)
- Primary and secondary autoimmune syndromes
- Lymphoma
It's essential to consider these conditions when diagnosing lymphoproliferative syndromes.
References
[1] Mar 2, 2023 — Lymphoproliferative Disorders Differential Diagnoses · Antineoplastics, Anti-CD20 Monoclonal Antibodies · Antineoplastic agents · Antiemetic agents ...
[2] Jun 14, 2024 — There are many different types of LPDs, so the diagnosis process focuses on finding out which disorder is causing your symptoms. To do that, a ...
[3] Jul 11, 2022 — The differential diagnosis is broad for ALPS. The main considerations in the differential diagnosis include self-limited viral infections, other ...
[4] Sep 30, 2024 — Autoimmune lymphoproliferative syndrome (ALPS) is characterized by nonmalignant lymphadenopathy, splenomegaly, and autoimmune cytopenias.
[5] by DR Matson · 2020 · Cited by 65 — The differential diagnosis of ALPS includes infection, other inherited immunodeficiency disorders, primary and secondary autoimmune syndromes, and lymphoma. The ...
[6] by NP Caraway · 2005 · Cited by 94 — The differential diagnosis for a polymorphous lymphoid population includes reactive lymphoid hyperplasia, marginal zone lymphoma, follicular ...
Additional Differential Diagnoses
- Infection
- Primary and Secondary Autoimmune Syndromes
Additional Information
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