hereditary mixed polyposis syndrome 1

Hereditary Mixed Polyposis Syndrome (HMPS) is a rare genetic condition characterized by the development of multiple types of polyps in the colon and rectum [3]. These polyps can be benign or malignant, and individuals with HMPS have an increased risk of developing colorectal cancer [1].

The syndrome is caused by a mutation in the BMPR1A gene on chromosome 10q23 [2], which leads to the formation of atypical juvenile polyps, colonic adenomas, and colorectal carcinomas (CRC) [4]. The clinical features of HMPS include extracolonic tumors, onset of polyps in adolescence, and rapid progression of some polyps to advanced adenomas [6].

Individuals with HMPS typically present with a mixture of hyperplastic, atypical juvenile, and adenomatous polyps in the colon and rectum [1]. The syndrome is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition [2].

The risk of developing colorectal cancer in individuals with HMPS is significantly increased compared to the general population [3]. Therefore, regular screening and surveillance are essential for early detection and management of the syndrome.

References: [1] Context 1 [2] Context 2 [3] Context 3 [4] Context 4 [6] Context 6

Hereditary Mixed Polyposis Syndrome (HMPS) is a rare genetic condition characterized by the development of multiple types of polyps in the colon and rectum. The signs and symptoms of HMPS can vary from person to person, but here are some common ones:

• Multiple types of polyps: Individuals with HMPS develop a mixture of hyperplastic, atypical juvenile, and adenomatous polyps in the colon and rectum.
• Increased risk of colorectal cancer: If left untreated, individuals with HMPS have an increased risk of developing colorectal cancer.
• No specific symptoms: In some cases, there may be no specific symptoms or signs until multiple polyps are detected during a colonoscopy.

It's essential to note that the presence of symptoms and signs can vary depending on individual factors. If you suspect you or someone else might have HMPS, it's crucial to consult with a healthcare professional for proper evaluation and diagnosis.

References:

• [3] Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.
• [10] Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.

Hereditary Mixed Polyposis Syndrome (HMPS) can be diagnosed through a combination of clinical evaluation, family history, and genetic testing.

• Colonoscopy and/or Sigmoidoscopy: These procedures are used to examine the inside of the rectum and colon. They help identify the presence of polyps, which is a key feature of HMPS (2).
• Genetic Testing: Genetic testing can confirm a diagnosis of HMPS by identifying mutations in the BMPR1A gene on chromosome 10q23 (11). This test is usually recommended when there is

Treatment Options for Hereditary Mixed Polyposis Syndrome (HMPS) 1

Hereditary mixed polyposis syndrome (HMPS) is a rare genetic condition characterized by the development of multiple types of polyps in the colon and rectum. While there is no cure for HMPS, various treatment options are available to manage the condition and reduce the risk of colorectal cancer.

• Nonsteroidal anti-inflammatory drugs (NSAIDs): Studies have shown that NSAIDs, such as sulindac, may reduce the number and size of colorectal polyps in individuals with HMPS [5]. However, more research is needed to confirm their effectiveness.
• Erlotinib: This medication has been found to cause regression of adenomas and decrease the polyp burden in individuals with familial adenomatous polyposis (FAP), a related condition [2].
• Other treatments: The management of HMPS often involves a multidisciplinary approach, including surgery, endoscopic surveillance, and genetic counseling. In some cases, medications such as celecoxib may be used to treat the condition [10].

Important Considerations

It is essential to note that each individual with HMPS may require a personalized treatment plan, taking into account their unique medical history, genetic profile, and other factors. A healthcare professional should be consulted for medical advice and treatment.

References:

[2] Several studies have shown that NSAIDs and erlotinib have caused regression of adenomas and decreased the polyp burden in individuals with FAP, though there are limitations to these findings [1]. [5] Nonsteroidal anti-inflammatory drugs (NSAIDs), such as sulindac, may reduce the number and size of colorectal polyps in individuals with HMPS [5]. [10] The management of HMPS often involves a multidisciplinary approach, including surgery, endoscopic surveillance, and genetic counseling. In some cases, medications such as celecoxib may be used to treat the condition [10].

Hereditary Mixed Polyposis Syndrome (HMPS) is a rare genetic disorder characterized by the presence of multiple types of polyps in the gastrointestinal tract, including adenomatous, hyperplastic, and juvenile polyps. When diagnosing HMPS, it's essential to consider other conditions that may present with similar symptoms.

According to various studies [1-3], the differential diagnosis for HMPS includes:

• Juvenile Polyposis Syndrome (JPS): A rare genetic disorder characterized by the presence of multiple juvenile polyps in the gastrointestinal tract.
• PTEN Hamartoma Tumor Syndrome (PHTS): A rare genetic disorder that predisposes individuals to develop hamartomas, which are benign tumors, and an increased risk of various cancers.
• Carney Complex: A rare genetic disorder characterized by the presence of multiple hamartomas, endocrine tumors, and other abnormalities.

In addition to these conditions, other factors such as polyp histology, number, size, and location can also help narrow down the differential diagnosis [4].

It's worth noting that germline BMPR1A pathogenic variants have been identified in affected members of six families with features of hereditary mixed polyposis syndrome [5]. This suggests a possible genetic link between HMPS and other conditions.

In terms of diagnostic criteria, polyp histology, particularly the presence of adenomatous or hyperplastic polyps, can be an important factor in differentiating HMPS from other conditions [6].

References:

[1] Aretz S. (2010) Demonstration of a causal mutation in leukocyte DNA is essential for the differential diagnosis (e.g. among the various adenomatous polyposis syndromes), ...

[2] Lieberman S. (2017) Their clinical features include extracolonic tumors, onset of polyps in adolescence, and rapid progression of some polyps to advanced adenomas.

[3] Jelsig AM. (2021) GREM1-associated Mixed Polyposis (previously Hereditary Mixed Polyposis syndrome) is an extremely rare condition with an unknown incidence.

[4] Lewis A, Segditsas S, Becker M, Cuadrado PR, et al. (2019) Hereditary mixed polyposis syndrome is caused by a 40kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist ...

[5] Germline BMPR1A pathogenic variants were identified in affected members of six families with features of hereditary mixed polyposis syndrome.

[6] Polyp histology, in particular, as well as polyp number, size and anatomic location of polyps can help narrow down the differential diagnosis ...