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Specific types of enteropathy include:
- Enteropathy-associated T-cell lymphoma
- Environmental enteropathy
- Eosinophilic enteropathy
- Gluten-sensitive enteropathy (which can progress to coeliac disease)
- Coeliac disease
- Human immunodeficiency virus (HIV) HIV Enteropathy
- Immunodysregulation polyendocrinopathy and enteropathy, X-linked (see FOXP3)
- Protein-losing enteropathy
- Radiation enteropathy
- Tropical enteropathy
If the condition also involves the stomach, it is known as "gastroenteropathy".
In pigs, porcine proliferative enteropathy is a diarrheal disease.
EATL can be classified as an extranodal peripheral T cell lymphoma, a category it shares with hepatosplenic T cell lymphoma and panniculitic T cell lymphoma.
It can be further classified in type I and II EATL.
Enteropathy-associated T-cell lymphoma (EATL), also enteropathy-type T-cell lymphoma (ETTL), is a type of T-cell lymphoma that affects the small intestine. It is the most common primary gastrointestinal T-cell lymphoma, arising from the T cells that are found between the cells that line the small intestinal (brush border cells or small intestinal epithelial cells). These cancerous T-cells are a possible consequence of refractory cases of coeliac disease or in chronic, untreated cases in genetically susceptible individuals.
Enteropathy refers to any pathology of the intestine. Although enteritis specifically refers to an inflammation of the intestine, and is thus a more specific term than "enteropathy", the two phrases are sometimes used interchangeably.
This disease is known for an indolent clinical course and incidental discovery. The most common physical finding is moderate splenomegaly. B symptoms are seen in a third of cases, and recurrent infections due to the associated neutropenia are seen in almost half of cases.
Rheumatoid arthritis is commonly observed in people with T-LGLL, leading to a clinical presentation similar to Felty's syndrome. Signs and symptoms of anemia are commonly found, due to the association between T-LGLL and erythroid hypoplasia.
Some of the symptoms and signs of IPEX syndrome are the following:
Patients usually present with constitutional symptoms (malaise, weight loss, fatigue), and hepatosplenomegaly is commonly found on physical exam. Lymphadenopathy is also found to a lesser extent. Due to the aggressive nature of the disease, patients may initially present at a more advanced stage, with coagulopathies, hemophagocytic syndrome, and multi-organ failure.
The onset of HLH occurs under the age of 1 year in ~70% of cases. Familial HLH should be suspected if siblings are diagnosed with HLH or if symptoms recur when therapy has been stopped. Each full sibling of a child with familial HLH has a 25% chance of developing the disease, a 50% chance of carrying the defective gene (which is very rarely associated with any risk of disease) and a 25% chance of not being affected and not carrying the gene defect.
Patients with HLH, especially when untreated, may need intensive therapy. Therefore, HLH should be included in the differential diagnosis of ICU (Intensive Care Unit) patients with cytopenia and hyperferritinemia.
HLH clinically manifests with fever, enlargement of the liver and spleen, enlarged lymph nodes, yellow discoloration of the skin and eyes, and a rash.
The leukemic cells of T-LGLL can be found in peripheral blood, bone marrow, spleen, and liver. Nodal involvement is rare.
The main symptoms of AIE include:
- Diarrhea (frequent loss of fluids)
- Intestinal inflammation
- Vomiting
- Intestinal bleeding
- Difficulty or inability to gain weight
- Rapid weight loss
- Decreased urine output from dehydration
The symptoms of CVID vary between people affected. Its main features are hypogammaglobulinemia and recurrent infections. Hypogammaglobulinemia manifests as a significant decrease in the levels of IgG antibodies, usually alongside IgA antibodies; IgM antibody levels are also decreased in about half of people. Infections are a direct result of the low antibody levels in the circulation, which do not adequately protect them against pathogens. The microorganisms that most frequently cause infections in CVID are bacteria Haemophilus influenzae, Streptococcus pneumoniae and Staphylococcus aureus. Pathogens less often isolated from people include Neisseria meningitidis, Pseudomonas aeruginosa and Giardia lamblia. Infections mostly affect the respiratory tract (nose, sinuses, bronchi, lungs) and the ears; they can also occur at other sites, such as the eyes, skin and gastrointestinal tract. These infections respond to antibiotics but can recur upon discontinuation of antibiotics. Bronchiectasis can develop when severe, recurrent pulmonary infections are left untreated.
In addition to infections, people with CVID can develop complications. These include:
- autoimmune manifestations, e.g. pernicious anemia, autoimmune haemolytic anemia (AHA), idiopathic thrombocytopenic purpura (ITP), psoriasis, vitiligo, rheumatoid arthritis, primary hypothyroidism, atrophic gastritis. Autoimmunity is the main type of complication in people with CVID, appearing in some form in up to 50% of individuals;
- malignancies, particularly Non-Hodgkin's lymphoma and gastric carcinoma;
- enteropathy, which manifests with a blunting of intestinal villi and inflammation, and is usually accompanied by symptoms such as abdominal cramps, diarrhea, constipation and, in some cases, malabsorption and weight loss. Symptoms of CVID enteropathy are similar to those of celiac disease, but don't respond to a gluten-free diet. Infectious causes must be excluded before a diagnosis of enteropathy can be made, as people with CVID are more susceptible to intestinal infections, e.g. by Giardia lamblia;
- lymphocytic infiltration of tissues, which can cause enlargement of lymph nodes (lymphadenopathy), of the spleen (splenomegaly) and of the liver (hepatomegaly), as well as the formation of granulomas. In the lung this is known as Granulomatous–lymphocytic interstitial lung disease.
Anxiety and depression can occur as a result of dealing with the other symptoms.
People generally complain of severe fatigue.
The signs and symptoms of non-Hodgkin's lymphoma vary depending upon its location within the body. Symptoms include enlarged lymph nodes, fever, night sweats, weight loss, and feeling tired. Other symptoms may include bone pain, chest pain, or itchiness. Some forms are slow growing while others are fast growing. Enlarged lymph nodes may cause lumps to be felt under the skin when they are close to the surface of the body. Lymphomas in the skin may also result in lumps, which are commonly itchy, red or purple. Lymphomas in the brain can cause weakness, seizures, problems with thinking and personality changes.
Peripheral T-cell lymphoma refers to a group of T-cell lymphomas that develop away from the thymus.
Examples include:
- Cutaneous T-cell lymphomas
- Angioimmunoblastic T-cell lymphoma
- Extranodal natural killer/T-cell lymphoma, nasal type
- Enteropathy type T-cell lymphoma
- Subcutaneous panniculitis-like T-cell lymphoma
- Anaplastic large cell lymphoma
- Peripheral T-cell lymphoma-Not-Otherwise-Specified
In ICD-10, cutaneous T-cell lymphomas are classified separately.
IPEX (immunodysregulation polyendocrinopathy enteropathy X-linked) syndrome is a rare disease linked to the dysfunction of the transcription factor FOXP3, widely considered to be the master regulator of the regulatory T cell lineage. It leads to the dysfunction of regulatory T-cells and the subsequent autoimmunity. The disorder manifests with autoimmune enteropathy, psoriasiform or eczematous dermatitis, nail dystrophy, autoimmune endocrinopathies, and autoimmune skin conditions such as alopecia universalis and bullous pemphigoid.
Management for immunodysregulation polyendocrinopathy enteropathy X-linked syndrome has seen limited success in treating the syndrome by bone marrow transplantation.
Primary HLH, also known as familial haemophagocytic lymphohistiocytosis (FHL) or familial erythrophagocytic lymphohistiocytosis, is a heterogeneous autosomal recessive disorder found to be more prevalent with parental consanguinity.
Secondary haemophagocytic lymphohistiocytosis (acquired haemophagocytic lymphohistiocytosis) occurs after strong immunologic activation, such as that which can occur with systemic infection, immunodeficiency, or underlying malignancy.
Both forms are characterized by the overwhelming activation of normal T lymphocytes and macrophages, invariably leading to clinical and haematologic alterations and death in the absence of treatment.
Extranodal NK/T-cell lymphoma, nasal type which was known as angiocentric lymphoma in the REAL classification, and also as nasal-type NK lymphoma, NK/T-cell lymphoma, and polymorphic/malignant midline reticulosis is a cutaneous condition which in Korea is reported to be the most common form of cutaneous lymphoma after mycosis fungoides.
Extranodal NK-T-cell lymphoma is a type of lymphoma.
It is called "extranodal" to emphasize that the location is typically not in the lymph node, and is sometimes further qualified as "nasal type". The nasal cavity, nasopharynx and upper aerodigestive tract are often involved, although extranasal presentations do occur (skin, gastrointestinal tract, eye, testis, lung, soft tissue). There is a strong association with Epstein–Barr virus.
The NCCN guidelines recommend either high-dose radiotherapy alone for stage I without high risk features, or concurrent chemoradiotherapy for stage I and II with either of two regimens. Asparaginase containing regimens have been used in advanced stage disease.
There is a diagnostic test for AIE that looks for an antibody against the enterocyte. The diagnostic test contains the Western Blot which can identify the antibody IgG or IgA and with the immunohistochemistry can localize these antibodies. Endoscopy with biopsies of the colon, small colon, stomach, and other locations may be helpful in diagnosing. This test is done to look at the stomach and small intestines and to see what cells are infiltrating the digestive tract. There are also documented cases of autoimmune enteropathy where the auto-antibodies were undetectable and the diagnosis was made on the basis of clinical presentation and response to treatment.
EE is rarely symptomatic and is considered a subclinical condition. However, adults may have mild symptoms or malabsorption such as altered stool consistency, increased stool frequency and weight loss.
This disease is typically found and diagnosed in peripheral blood, and while it can involve any organ, it is usually found in the spleen, liver, and bone marrow.
The most common symptoms of CAEBV include:
- Fever
- Hepatitis
- Pancytopenia
- Spleen enlargement
- Hypersensitivity to mosquito bites
Complications include:
- Interstitial pneumonia
- Lymphoma, including B-cell, T-cell and NK-cell lymphomas
- Haemophagocytic syndrome
- Coronary artery aneurysms
- Liver failure
- Nasopharyngeal carcinoma
- Gastric adenocarcinoma
- CNS
- Intestinal perforation
- Myocarditis
- Peripheral neuropathy
Common variable immunodeficiency (CVID) is an immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM and IgA. Generally symptoms include high susceptibility to foreign invaders, chronic lung disease, and inflammation and infection of the gastrointestinal tract. However, symptoms vary greatly between people. CVID is a lifelong disease.
The cause of CVID is poorly understood. Deletions in genes that encode cell surface proteins and cytokine receptors, such as CD19, CD20, CD21, and CD80, is a likely cause. A deletion is a mutation in which part of the chromosome is lost during DNA replication which may include several genes, or as few as a single base pair. Additionally, the disease is defined by T cell defects, namely reduced proliferative capacity. The disease is hard to diagnose, taking on average 6–7 years after onset.
Treatment options are limited, and usually include lifelong immunoglobulin replacement therapy. This therapy is thought to help reduce bacterial infections. This treatment alone is not wholly effective, and many people still experience other symptoms like lung disease and noninfectious inflammatory symptoms.
CVID was first diagnosed over 60 years ago, and since has emerged as the predominant class of primary antibody deficiencies. CVID is formally diagnosed by levels of IgG and IgA more than two standard deviations from the norm, and no other cause for hypogammaglobulinemia, an abnormally low level of immunoglobulins in the blood. It is thought to affect between 1 in 25,000 to 1 in 50,000 people worldwide.
Lymphoid leukemias — also called lymphocytic, lymphogenous, or lymphoblastic leukemias — are a group of leukemias affecting circulating lymphocytes, a type of white blood cells. The lymphocytic leukemias are closely related to lymphomas of the lymphocytes, to the point that some of them are unitary disease entities that can be called by either name (for example, adult T-cell leukemia/lymphoma). Such diseases are all lymphoproliferative disorders. Most lymphoid leukemias involve a particular subtype of lymphocytes, the B cells.
Peripheral T-cell lymphoma not otherwise specified (PTCL-NOS), is a subtype of peripheral T-cell lymphoma. Peripheral T-cell lymphoma (PTCL) is defined as a diverse group of aggressive lymphomas that develop from mature-stage white blood cells called T-cells and natural killer cells (NK cells) (see figure for an overview of PTCL subtypes). PTCL is a type of non-Hodgkin's lymphoma (NHL). NHL affects two particular types of white blood cells: B-cells and T-cells. PTCL specifically affects T-cells, and results when T-cells develop and grow abnormally.
PTCL-NOS, the most common subtype of PTCL, is aggressive and predominantly nodal. There are two morphologic variants: the T-zone lymphoma variant and the lymphoepithelioid cell variant.
- T-zone lymphoma is so named for its involvement in a specific area of the lymph node that consists of a dense accumulation of T-cells.
- Lympho-epithelioid lymphoma, also called Lennert's lymphoma, is rare and generally affects older individuals.
Chronic active EBV infection (CAEBV) or in its expanded form, chronic active Epstein-Barr virus infection is a very rare and often fatal complication of Epstein-Barr virus (EBV) infection that most often occurs in children or adolescents of Asian or South American lineage, although cases in Hispanics, Europeans and Africans have been reported.
Environmental enteropathy is believed to result in chronic malnutrition and subsequent growth stunting (low height-for-age measurement) as well as other child development deficits.