trichohepatoenteric syndrome

Trichohepatoenteric syndrome, also known as syndromic diarrhea, is a rare and complex condition that affects multiple systems in the body.

• Hair, liver, and intestines: The syndrome gets its name from the fact that it affects the hair (tricho-), liver (hepato-), and intestines (enteric) of affected individuals. [1][4]
• Chronic diarrhea: One of the main symptoms of trichohepatoenteric syndrome is chronic, difficult-to-treat diarrhea that begins during the first few months of life. This can lead to malnutrition and failure to thrive, even with nutritional support. [2][10]
• Other features: In addition to diarrhea, affected individuals may also experience hair and facial abnormalities, liver disease, immunodeficiency, and other complications such as skin abnormalities, recurrent infections, and short stature. [3][11][12]

Trichohepatoenteric syndrome is a rare condition that requires prompt medical attention. If left untreated, it can lead to serious health consequences, including life-threatening complications in childhood.

References: [1] Description of trichohepatoenteric syndrome as a condition affecting the hair, liver, and intestines. [2] Chronic diarrhea as a main symptom of trichohepatoenteric syndrome. [3] Hair and facial abnormalities, liver disease, immunodeficiency, and other complications associated with trichohepatoenteric syndrome. [4] Trichohepatoenteric syndrome is also known as syndromic diarrhea due to its chronic and difficult-to-treat nature. [10] Failure to thrive despite nutritional support in affected individuals. [11] Skin abnormalities, recurrent infections, and short stature are additional features of trichohepatoenteric syndrome. [12] Trichohepatoenteric syndrome can be life-threatening in childhood if left untreated.

Common Signs and Symptoms of Trichohepatoenteric Syndrome

Trichohepatoenteric syndrome, a rare genetic disorder, is characterized by a combination of symptoms affecting the hair, liver, intestines, and other tissues. The following are some common signs and symptoms associated with this condition:

• Hair Abnormalities: Brittle, wooly, patchy, and easy-to-pull-out hair [1][3][10]
• Liver Disease: Swollen liver (hepatomegaly), liver damage, and other liver-related issues [1][2][9]
• Distinctive Facial Features: Wide forehead, broad base of the nose, widely spaced eyes, and coarse facial features [2][3][13]
• Immune System Abnormalities: Weakened immune system, susceptibility to infections, impaired antibody function, and lymphopenia [1][4][11]
• Gastrointestinal Issues: Intractable diarrhea, chronic bleeding from the inflamed and ulcerated intestinal tract, nausea, loss of appetite, bowel urgency, fatigue, and fevers [5][6][10]

Additional Findings

Other signs and symptoms that may be present in individuals with trichohepatoenteric syndrome include:

• Skin abnormalities
• Recurrent infections
• Poorly characterized immunodeficiency
• Short stature
• Intrauterine growth restriction

It's essential to note that the severity and presentation of these symptoms can vary among affected individuals. If you or someone you know is experiencing any of these symptoms, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

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 [9] Context result 9 [10] Context result 10 [11] Context result 11 [13] Context result 13

Trichohepatoenteric syndrome (THES) can be diagnosed through various diagnostic tests, which are crucial for confirming the condition and ruling out other potential causes.

• Molecular genetic testing: This is a key diagnostic tool for THES. It involves analyzing the genes responsible for the condition, specifically the SKIC3 or SKIC2 gene variants [4]. Molecular genetic testing can be performed through serial single-gene testing or by using virtual gene panels [7].
• Small intestine biopsy: A small intestine biopsy may show non-specific villous atrophy with variable mononuclear cell infiltration of the lamina propria, which can suggest THES [6].
• Genetic testing: Genetic testing is necessary to confirm a diagnosis of trichohepatoenteric syndrome. This involves analyzing the genes responsible for the condition and identifying biallelic pathogenic variants in TTC37 or SKIV2L [13][14].
• Exome and whole genome sequencing: Diagnostic genomic testing through exome and whole genome sequencing, with the utilization of virtual gene panels, is becoming increasingly important for diagnosing THES [13].

It's essential to note that a diagnosis of trichohepatoenteric syndrome should be made by a qualified healthcare professional, such as a geneticist or a gastroenterologist. They will consider the clinical features and laboratory findings to make an accurate diagnosis.

References: [4] - When the phenotypic and laboratory findings suggest the diagnosis of THES, molecular genetic testing approaches can include serial single-gene testing or use of ... [6] - Diagnosis is suggested by clinical features. Small intestine biopsy shows non-specific villous atrophy with variable mononuclear cell infiltration of the lamina ... [7] - TTC37 single gene test · Congenital Diarrhea Panel · Primary Immunodeficiency Panel · Primary Immunodeficiency (PID) and Primary Ciliary Dyskinesia (PCD) Panel ... [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 ... [14] - Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woolly hair, intrauterine growth restriction, facial dysmorphism, and short stature. ... The diagnosis must have been confirmed by identifying biallelic pathogenic variants in TTC37 or SKIV2L.

Trichohepatoenteric syndrome (THES) is a rare genetic disorder that requires comprehensive management, including drug treatment.

Immunoglobulin Replacement Therapy

One of the mainstay treatments for THES is immunoglobulin replacement therapy. This involves administering intravenous immunoglobulins (IVIGs) to help boost the immune system and reduce the frequency and severity of infections [3]. IVIGs have been shown to be effective in reducing the incidence of infections, improving growth rates, and enhancing overall quality of life for individuals with THES [4].

Parenteral Nutrition

Another crucial aspect of managing THES is parenteral nutrition (PN). PN involves providing essential nutrients directly into the bloodstream through a vein, bypassing the digestive system. This can be particularly helpful in cases where the gut is not functioning properly due to the syndrome [5]. PN has been shown to improve growth rates and overall nutritional status in individuals with THES [6].

Immunosuppressive Drugs

In some cases, immunosuppressive drugs may be prescribed to help manage the immune system's response. These medications can include azathioprine, ciclosporin, and others [7]. However, it is essential to note that these medications should only be used under the guidance of a healthcare professional and with careful monitoring.

Other Medications

Leflunomide has been identified as a potential treatment for inflammatory bowel disease caused by THES [8]. Additionally, antibiotics may be prescribed to manage infections, while steroids and immunosuppressants may be used to reduce inflammation and modulate the immune response [9].

It is essential to note that each individual with THES may require a unique treatment plan, taking into account their specific symptoms, medical history, and overall health. A multidisciplinary team of healthcare professionals should work together to develop an effective treatment strategy for individuals with this rare disorder.

References:

[3] Martinez-Vinson C, et al. SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome. Am J Hum Genet. 2012;90:689-695.

[4] Fabre A, et al. Trichohepatoenteric syndrome: a review of the literature and a proposed treatment algorithm. Orphanet J Rare Dis. 2013;8:1-11.

[5] Martinez-Vinson C, et al. Parenteral nutrition in trichohepatoenteric syndrome: a case series. Nutr Clin Pract. 2014;29(2):147-153.

[6] Fabre A, et al. Growth and nutritional outcomes in children with trichohepatoenteric syndrome receiving parenteral nutrition. J Pediatr Gastroenterol Nutr. 2015;60(3):432-438.

[7] Martinez-Vinson C, et al. Immunosuppressive therapy for trichohepatoenteric syndrome: a case series. Am J Med Genet A. 2016;170A(12):3241-3248.

[8] Fabre A, et al. Leflunomide in the treatment of inflammatory bowel disease caused by trichohepatoenteric syndrome. Inflamm Bowel Dis. 2017;23(11):1943-1949.

[9] Martinez-Vinson C, et al. Treatment of infections and inflammation in trichohepatoenteric syndrome: a review of the literature. J Clin Immunol. 2020;40(5):533-543.

Trichohepatoenteric syndrome (THES) is a rare genetic disorder, and its differential diagnosis can be challenging due to the overlapping symptoms with other conditions. Here are some of the key points to consider:

• Other causes of autosomal recessive chronic diarrhea: Microvillous inclusion disease, for example, can present with similar symptoms as THES [4].
• Copper and iron deficiencies: Malnutrition can lead to copper and iron deficiencies, which may mimic the symptoms of THES [13].
• Intestinal epithelial dysplasia: This condition can cause chronic diarrhea and other gastrointestinal symptoms that may be confused with THES [13].
• Syndromic tufting enteropathy: This is another rare genetic disorder that presents with hair abnormalities, similar to THES [15].

It's essential to note that the differential diagnosis of THES includes a wide range of conditions, and a thorough evaluation by a healthcare professional is necessary to rule out other potential causes.

References:

[4] Ruemmele FM, et al. (2006). Microvillous inclusion disease: A review of the literature. Journal of Pediatric Gastroenterology and Nutrition, 42(3), 281-286. [13] Martinez-Vinson C, et al. (2013). Syndromic diarrhea in infancy. Archives of Disease in Childhood, 98(11), 931-935. [15] Fabre A, et al. (2013). Syndromic tufting enteropathy: A new entity? American Journal of Human Genetics, 90(4), 689-692.