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lymphoproliferative syndrome 1
ICD-10 Codes
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Description
Lymphoproliferative Syndrome-1 (LPD-1) is a rare genetic disorder characterized by an abnormal proliferation of lymphocytes, a type of white blood cell. This condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the syndrome.
Key Features:
- Early Childhood Onset: LPD-1 typically presents in early childhood, with symptoms appearing within the first few years of life.
- Epstein-Barr Virus Reactivation: The condition is often triggered by reactivation of the Epstein-Barr virus (EBV), a common viral infection that usually causes mild symptoms in healthy individuals.
- Immune System Dysregulation: LPD-1 leads to an overactive immune response, causing an excessive production of lymphocytes and subsequent inflammation.
Symptoms:
- Recurring fever
- Swollen lymph nodes
- Enlarged spleen (splenomegaly)
- Autoimmune cytopenias (low blood cell counts)
References:
- [2] Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus ...
- [6] XLP is a rare genetic condition that causes the immune system to overreact to the Epstein-Barr virus (EBV) infection. It causes a severe inflammatory syndrome ...
Additional Characteristics
- Swollen lymph nodes
- Abnormal proliferation of lymphocytes
- Early childhood onset
- Epstein-Barr Virus Reactivation triggered
- Immune System Dysregulation leading to excessive production of lymphocytes and inflammation
- Recurring fever
- Enlarged spleen (splenomegaly)
- Autoimmune cytopenias (low blood cell counts)
Signs and Symptoms
Lymphoproliferative syndrome, also known as Lymphoproliferative disorders (LPDs), can manifest in various ways. Here are some common signs and symptoms:
- Swollen lymph nodes: Enlarged lymph nodes in the neck, armpit, and groin area are a hallmark symptom of LPD [1]. These swollen nodes can be tender to touch.
- Enlarged liver and spleen: In some cases, the liver and spleen may become enlarged due to the accumulation of abnormal white blood cells [2].
- Fatigue: Feeling extremely tired or weak is another common symptom of LPD [3].
- Fever: Some people with LPD may experience recurring fever or night sweats [4].
- Weight loss: Unintentional weight loss can occur due to the body's inability to produce enough red blood cells, leading to anemia [5].
Additionally, some individuals with lymphoproliferative syndrome may exhibit other symptoms such as:
- Skin rashes
- Panniculitis (inflammation of fatty tissue)
- Arthritis
- Inflammation of blood vessels (vasculitis)
- Mouth sores
- Premature ovarian failure
It's essential to note that not everyone with lymphoproliferative syndrome will exhibit all these symptoms, and the severity can vary from person to person. If you're experiencing any unusual symptoms or concerns, it's crucial to consult a healthcare professional for proper evaluation and diagnosis.
References: [1] Apr 19, 2019 — The swollen lymph nodes in the neck, armpit, and groin are usually the most noticeable symptoms of the disease. [2] Jun 14, 2024 — Others are blood cancers. Common symptoms are swollen lymph nodes, enlarged liver and spleen, fatigue, fever and losing weight without trying. [3] Dec 1, 2018 — Some people have signs and symptoms that resemble those of ALPS, including lymphoproliferation, lymphadenopathy, splenomegaly, and low blood ... [4] by T Zebra — Whenever individuals with ALPS develop systemic symptoms (like fever, night sweats, weight loss, or loss of appetite) and/or sudden focal enlargement of a group ... [5] Dec 19, 2023 — Symptoms · anemia · weakness · swollen lymph nodes · spleen or liver enlargement ·
Additional Symptoms
- Skin rashes
- Mouth sores
- Swollen lymph nodes
- Premature ovarian failure
- Enlarged liver and spleen
- Panniculitis (inflammation of fatty tissue)
- Inflammation of blood vessels (vasculitis)
- weight loss
- arthritis
- fever
- fatigue
Diagnostic Tests
Diagnostic Tests for Lymphoproliferative Syndrome
Lymphoproliferative syndrome, also known as autoimmune lymphoproliferative syndrome (ALPS), is a rare immunodeficiency disorder characterized by abnormal lymphocyte survival and proliferation. The diagnosis of ALPS typically involves a combination of clinical evaluation, laboratory tests, and imaging studies.
Blood Tests:
- Complete Blood Count (CBC) with differential: This test measures the levels of different blood cells, including white blood cells, red blood cells, and platelets. Elevated white blood cell counts may indicate lymphoproliferation.
- Immunoglobulin levels: ALPS patients often have elevated levels of immunoglobulins, such as IgG, IgA, and IgM.
- Plasma interleukin-10 (IL-10) and interleukin-18 (IL-18
Additional Diagnostic Tests
- Imaging studies
- Complete Blood Count (CBC) with differential
- Immunoglobulin levels
- Plasma interleukin-10 (IL-10) and interleukin-18 (IL-18)
Treatment
Treatment Options for Lymphoproliferative Syndrome (LPS)
Lymphoproliferative syndrome, also known as X-linked lymphoproliferative disease (XLP), is a rare genetic disorder that affects the immune system. The treatment options for LPS are limited and often involve managing symptoms and preventing complications.
Medications Used in Treatment
- Immunoglobulin replacement therapy: This involves administering antibodies to help boost the immune system's ability to fight infections [2].
- Steroids: Such as methylprednisolone, which can be used to suppress the immune system and reduce inflammation [4][8].
- Rituximab: A medication that helps lower Epstein Barr virus levels in patients with LPS [5].
Other Treatment Options
- Bone marrow transplantation: This is considered a curative treatment option for some patients, but it carries significant risks and complications [7].
- Immunosuppressive therapy: This involves using medications to suppress the immune system's overactive response, which can help manage symptoms and prevent complications [3].
Importance of Early Diagnosis
Early diagnosis and treatment are crucial in managing LPS. If left untreated or undertreated, patients with LPS may experience severe complications, including infections, organ damage, and even death.
References:
[1] Not applicable (this is the user's query)
[2] Context 2: Apr 1, 2019 — Doctors may use immunoglobulin replacement therapy to treat the low level of antibodies that occurs in some patients with XLP, but this will not ...
[3] Context 6: Treatment for lymphoproliferative can include medication, chemotherapy, immunoglobulin therapy, home-based therapies or a bone marrow transplant. The type of ...
[4] Context 4: by VK Rao · 2011 · Cited by 217 — We use high-dose pulse therapy with intravenous methylprednisolone (5-10 mg/kg) followed by low-dose oral prednisone (1-2 mg/kg) maintenance therapy that can ...
[5] Context 5: Patients may also be treated with a medication called rituximab, which helps to lower the levels of Epstein Barr virus. For patients requiring a curative stem ...
[6] Context 7: Treatment for X-linked lymphoproliferative syndrome is hematopoietic stem cell transplantation. Approximately 75% of patients die by age 10 years, and all die by ...
[8] Context 8: Nov 24, 2011 — We use high-dose pulse therapy with intravenous methylprednisolone (5-10 mg/kg) followed by low-dose oral prednisone (1-2 mg/kg) maintenance ...
Recommended Medications
- Steroids
- Rituximab
- Immunoglobulin replacement therapy
💊 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
Differential Diagnosis of Lymphoproliferative Syndrome
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 parts of the body. The differential diagnosis for ALPS involves identifying other conditions that may present with similar clinical findings.
Conditions to Consider:
- Reactive Lymphoid Hyperplasia: This condition can mimic the clinical presentation of ALPS, particularly in children (1).
- Marginal Zone Lymphoma: A type of non-Hodgkin lymphoma that can present with lymphadenopathy and splenomegaly, similar to ALPS (6).
- Follicular Lymphoma: Another type of non-Hodgkin lymphoma that can cause lymphadenopathy and splenomegaly, which may be confused with ALPS (6).
- Infections: Certain infections, such as Epstein-Barr Virus (EBV) Infectious Mononucleosis, can present with similar clinical findings to ALPS, particularly in children (1).
- Other Inherited Immunodeficiency Disorders: Conditions like Common Variable Immunodeficiency (CVID) and Hyper-IgM Syndrome can also be considered in the differential diagnosis of ALPS (3).
- Primary and Secondary Autoimmune Syndromes: These conditions can present with autoimmune cytopenias, which may be seen in ALPS patients (9).
Key Clinical Findings:
To diagnose ALPS accurately, clinicians must consider the following key clinical findings:
- Lymphadenopathy
- Splenomegaly
- Autoimmune cytopenias
These findings are essential for distinguishing ALPS from other conditions with similar presentations.
References: (1) [1] (3) [3] (6) [6] (9) [9]
Additional Differential Diagnoses
- Reactive Lymphoid Hyperplasia
- Infections (EBV Infectious Mononucleosis)
- Other Inherited Immunodeficiency Disorders (CVID, Hyper-IgM Syndrome)
- Primary and Secondary Autoimmune Syndromes
- marginal zone lymphoma
- follicular lymphoma
Additional Information
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- A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.
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