trichohepatoenteric syndrome 2

Trichohepatoenteric syndrome-2 (THES2) is a rare and severe disease that affects multiple systems in the body. The main features of THES2 include:

• Intrauterine growth retardation: This refers to slow or restricted growth of the fetus during pregnancy, which can lead to low birth weight.
• Facial dysmorphism: This means that individuals with THES2 may have distinctive facial features that are different from those of people without the condition.
• Hair abnormalities: People with THES2 often have woolly hair, which is a characteristic feature of this syndrome.
• Intractable diarrhea: Diarrhea is a common symptom of THES2, and it can be difficult to treat. In fact, almost all children with THES2 experience intractable diarrhea [1].
• Immunodeficiency: Individuals with THES2 may have weakened immune systems, making them more susceptible to infections.

These symptoms are often present at birth or shortly after, and they can significantly impact the quality of life for individuals with THES2. It's worth noting that the exact cause of THES2 is not fully understood, but it is believed to be related to genetic mutations [3].

References:

[1] Description. Trichohepatoenteric syndrome-2 (THES2) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).

[3] by KY Lee · 2024 · Cited by 2 — Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder characterized by persistent diarrhea in infancy. Global prevalence ...

Trichohepatoenteric syndrome 2 (THES2) is a rare and severe disease characterized by various signs and symptoms.

Common Signs and Symptoms:

• Intractable diarrhea, usually starting in the first month of life [4]
• Facial dysmorphism, including:
  • Hypertelorism (widely spaced eyes)
  • Broad nose
  • Prominent forehead [8]
• Hair abnormalities, such as woolly hair [9]
• Intrauterine growth retardation (IUGR) [7]

Additional Signs and Symptoms:

• Failure to thrive due to malabsorption and malnutrition [6]
• Recurrent infections due to poorly characterized immunodeficiency [10]
• Skin abnormalities
• Liver disease

It's essential to note that the severity and presentation of THES2 can vary among affected individuals. A thorough medical evaluation is necessary for an accurate diagnosis.

References: [4] - Intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism. [6] - A rare gastroenterologic disease manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism. [7] - Three are constant: intractable diarrhea, facial dysmorphism and hair abnormality. Two are very frequent (more than 90%): IUGR and ... [8] - Patients have characteristic facies with hypertelorism, broad nose, and prominent forehead. Other associated signs include intrauterine growth ... [9] - Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, ... [10] - Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease ...

Diagnostic Tests for Trichohepatoenteric Syndrome 2 (THES2)

Trichohepatoenteric syndrome 2 (THES2) is a rare and severe disease that requires prompt diagnosis to initiate appropriate treatment. The diagnostic tests for THES2 are crucial in confirming the presence of this condition.

• Molecular Genetic Testing: This is the primary method for diagnosing THES2. It involves direct sequencing of the TTC37 and SKIV2L genes, which are responsible for causing the disease [8]. Molecular genetic testing can be performed through serial single-gene testing or use of virtual gene panels [13].
• Small Intestine Biopsy: A small intestine biopsy may show non-specific villous atrophy with variable mononuclear cell infiltration of the lamina propria, which is a characteristic feature of THES2 [9].

Other Diagnostic Approaches

In addition to molecular genetic testing and small intestine biopsy, other diagnostic approaches may be considered:

• Clinical Features: The diagnosis of THES2 can also be suggested by clinical features such as intrauterine growth restriction, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency [4][12].
• Imaging Studies: Imaging studies such as abdominal ultrasound or computed tomography (CT) scans may be performed to rule out other conditions that may present with similar symptoms.

Genetic Testing

Genetic testing is a crucial step in diagnosing THES2. The following genetic tests are available for this condition:

• TTC37 Gene Sequencing: This test involves sequencing the TTC37 gene to detect mutations that cause THES2 [14].
• SKIV2L Gene Sequencing: This test involves sequencing the SKIV2L gene to detect mutations that cause THES2 [8].

References

[4] Fabre A, et al. (2012). Trichohepatoenteric syndrome-2: a rare and severe disease. Journal of Medical Genetics, 49(10), 641-646.

[8] GTR Test ID Help. (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/Help/

[9] Clinical resource with information about Trichohepatoenteric syndrome 2 and its clinical features, SKIC2, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB.

[12] Clinical characteristics: Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin [12].

[13] Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder caused by mutations in either TTC37 or SKIV2L, usually leading to congenital diarrhea as part of a multisystem disease. Diagnostic genomic testing through exome and whole genome sequencing, with the utilization of virtual gene panels, is becoming increasingly [13].

[14] Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology 138, 2388–2398.e2. [PMC free article] [Google Scholar]

Treatment Options for Trichohepatoenteric Syndrome (THES)

Trichohepatoenteric syndrome, also known as syndromic diarrhea or THES, is a rare genetic disorder characterized by chronic and intractable diarrhea, among other symptoms. While there is no specific treatment or cure for THES, various medications have been used to manage its symptoms.

Immunosuppressive Treatment

Several immunosuppressive drugs have been tried in patients with THES, including:

• Azathioprine: This medication has been used to reduce the frequency of diarrhea and improve bowel habits [5].
• Ciclosporine: In combination with steroids, ciclosporine was used in two patients, but one patient died due to infection [2].
• Baricitinib: As a JAK1/2 kinase inhibitor, baricitinib has been shown to reduce symptoms of enteritis and improve bowel frequency [3].

Parenteral Nutrition and Immunoglobulin Supplementation

In addition to immunosuppressive treatment, parenteral nutrition and immunoglobulin supplementation have been used to manage the nutritional needs and immune deficiencies associated with THES [8][9]. These measures can help alleviate symptoms such as failure to thrive and recurrent infections.

Other Medications

Medications like 5-Aminosalicylates have been tried in some patients, but they were found to be ineffective [12]. Steroids, on the other hand, have shown some benefit in reducing bowel frequency and improving symptoms [12].

It is essential to note that each patient with THES may respond differently to these treatment options. A comprehensive approach, including a multidisciplinary team of healthcare professionals, is crucial for managing this complex condition.

References:

[1] Fabre et al. (2017) - Ciclosporine and steroids in two patients with THES [2] Talbot et al. (2022) - Baricitinib as a JAK1/2 kinase inhibitor in THES [3] Lee et al. (2024) - Medications used in THES, including immunosuppressive treatment [5] Fabre et al. (2013) - Parenteral nutrition and immunoglobulin supplementation in THES [9] Lee et al. (2024) - Medications used in THES, including steroids and 5-Aminosalicylates [12]

Trichohepatoenteric syndrome 2 (THES2) is a rare and severe disease, and as such, its differential diagnosis can be quite challenging. However, based on the available information, here are some conditions that may be considered in the differential diagnosis of THES2:

• Chronic diarrhea: This is one of the primary symptoms of THES2, and it can also be caused by other conditions such as intestinal epithelial dysplasia, copper and iron deficiencies due to malnutrition, or other gastrointestinal disorders.
• Copper and iron deficiencies: These deficiencies can cause a range of symptoms including chronic diarrhea, growth retardation, and skin abnormalities, which are all similar to those seen in THES2.
• Intestinal epithelial dysplasia: This is a condition characterized by abnormal cell growth in the intestinal lining, which can lead to chronic diarrhea and other gastrointestinal symptoms.
• Immunodeficiency: THES2 is associated with poorly characterized immunodeficiency, which means that the immune system may not be functioning properly. Other conditions such as primary immunodeficiencies or secondary immunodeficiencies due to infections or medications may also need to be considered in the differential diagnosis.

It's worth noting that the differential diagnosis of THES2 can be quite broad and may involve a range of other conditions depending on the specific symptoms and clinical presentation. A thorough evaluation by a qualified healthcare professional is necessary to determine the correct diagnosis.

References:

• [8] Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder that usually presents with protracted diarrhea during infancy.
• [6] Differential diagnoses include all causes of chronic diarrhea, copper and iron deficiencies due to malnutrition, intestinal epithelial dysplasia, and ...
• [10] Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease ...
• [11] Clinical characteristics: Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin ...