High-sensitivity C-reactive protein (hs-CRP): Aetna considers high-sensitivity C-reactive protein (hs-CRP) testing medically necessary for members who meet all of the.
Overview, Polypoid Disease of the Gastrointestinal Tract, Colorectal Carcinoma Genetics (Defects in Mismatch Recognition and Repair)Not all polyposis syndromes are familial. Familial polyposis syndromes are divided into 2 major groups based on the presence of adenomas or hamartomas. The inherited adenomatous polyposis syndromes include familial adenomatous polyposis (FAP) and Turcot syndrome; the familial hamartomatous polyposis syndromes include Peutz- Jeghers syndrome and juvenile polyposis.
Although juvenile polyps are common in children, adenomas are quite unusual. The latter are considered dysplastic precancerous lesions that are commonly seen in late adulthood. When discovered in children, they suggest one of several types of inherited colorectal cancer. Diffuse juvenile polyposis is a syndrome with multiple polyps spread throughout the GI tract and presents in younger children (aged 6 months to 5 years); in juvenile polyposis coli, the polyps are confined to the rectosigmoid area and are typically found in older patients (aged 5- 1.
Hamartomatous polyps may also be found in patients with Cowden disease, Cronkhite, Bannayan- Riley- Ruvalcaba syndrome, and basal cell nevus syndrome. Most polyps of the GI tract are benign and result from hamartomas of the mucosa or lymphoid hyperplasia of the submucosal layer. However, adenomatous polyps represent a genetic alteration in the mucosa and have substantial malignant potential. For study purposes, only the hamartomatous lesions and other nonfamilial lesions are discussed in this section. FAP is presented in detail below, with other cancer- predisposing entities. Polyps occur in 1% of preschool- aged and school- aged children .
Juvenile polyps are the most common (8. Juvenile polyposis syndromes are classified as follows: . Submucosal lymphoid tissue is prominent in children, particularly in the distal ileum (Peyer patches). These non- neoplastic polyps may occur in the rectum, colon, and terminal ileum.
Macroscopically, they appear as firm, round, submucosal nodules that are smooth or lobulated. They are never pedunculated. They often have a volcano- like appearance with mucosal ulceration, which leads to occult blood loss. Histologically, they are hyperplastic lymphoid follicles with a large germinal center covered by colonic mucosa. They develop in young children, with a peak incidence at age 4 years.
Adolescence (from Latin adolescere, meaning 'to grow up') is a transitional stage of physical and psychological development that generally occurs during the period. 257220 - niemann-pick disease, type c1; npc1 - niemann-pick disease, type c; npc;; niemann-pick disease with cholesterol esterification block.
Patients present with anemia or, less frequently, with severe rectal bleeding. Barium enema and colonoscopy findings are helpful (in 5. Surgery is indicated only for uncontrolled bleeding and intussusception that does not respond to enema treatment.
Otherwise, expectant measures are adequate because these polyps are benign and spontaneously regress. Isolated juvenile polyps. Also known as retention, inflammatory, or cystic polyps, isolated juvenile polyps are the most common types of polyps found in children (8.
GI bleeding in this population. They are considered hamartomas and lack malignant potential. The peak incidence is in children aged 3- 5 years; boys seek medical attention twice as often as girls do. Approximately 4. 0- 6. They often have an ulcerated surface, which accounts for the rectal bleeding. On cross- section analysis, cystic spaces filled with mucus are revealed.
Some data suggest that that these polyps may result from structural rearrangement of the mucosa secondary to an inflammatory process. When managing a prolapsed polyp, controlling the polyp stalk prior to resection is mandatory.
Failure to control the polyp stalk can result in retraction, which makes hemostatic control very difficult. One third of these patients have other congenital abnormalities such as Meckel diverticulum, malrotation, and heart lesions. Diffuse juvenile polyposis is inherited as an autosomal dominant trait; .
Typically, these are not considered premalignant unless they are part of a polyposis syndrome. Patients with diffuse juvenile polyposis have a 5.
CRC). These polyps often have an ulcerated surface and demonstrate more epithelium with a villous or papillary configuration. In addition to the aforementioned epithelial dysplasia occurring in juvenile polyps, adenomas are also often present. Thus, the approach to these patients is similar to that taken in patients with FAP. Some authors recommend monitoring these patients with an annual CBC count (to detect anemia due to GI bleeding), semiannual colonoscopy, and subsequent colectomy if severe dysplasia, bleeding, or rapid polyp formation occurs.
Others advocate for prophylactic colectomy. Associated congenital defects include cleft palate, malrotation, polydactyly, and cranial abnormalities. Juvenile polyposis coli. A child with 3- 1.
GI tract outside of the colon, or one polyp and a family history of juvenile polyposis is considered to have the syndrome. The amount of polyps increases the risk of chronic bleeding, which subsequently leads to iron deficiency anemia, hypoproteinemia, and failure to thrive. Epithelial dysplasia can occur.
Adenomas can also be found in conjunction with juvenile polyps. Mark's Polyposis Registry in London, the cumulative risk for cancer in patients with a juvenile polyposis syndrome is 6. When a polyp is demonstrated as a lead point in a patient with intussusception, an evaluation may be indicated to identify polyposis syndromes. However, germline mutations and somatic inactivation of STK1.
SMAD4, BMPR1. A, and PTEN genes in hamartomatous polyposis syndromes create an epithelial environment favorable for neoplastic transformation. These spots are typically present at puberty. Dramatic advances have occurred in the understanding of the genetic and molecular basis of the disease that apply to these polyps.
Although adenomas can occur concurrently in the syndrome, these polyps are mostly hamartomas of the muscularis mucosa. They appear as pedunculated lobulated lesions, measuring from a few millimeters to several centimeters. Peutz- Jeghers syndrome is inherited as an autosomal dominant trait, . It affects all ethnic groups with equal sex distribution; . Patients usually present during early adolescence. Some patients present with an increased frequency of defecation, rectal bleeding, anemia, abdominal pain, vomiting, or recurrent episodes of intussusception.
Adenomatous and carcinomatous changes in the hamartomas have been reported. An aggressive screening and biopsy program should be undertaken, including an annual examination with CBC count, breast and pelvic examinations (with cervical smears and pelvic ultrasonography) in females, mammography at age 2. Extensive intestinal resections are contraindicated because of the recurrent nature of the polyps and the ensuing short- bowel syndrome that may result.
Rapid growth, induration, severe dysplasia, villous changes, or polyps larger than 1. In this syndrome, the polyps are adenomatous rather than hamartomas. The associated extraintestinal tumors include desmoid cysts, cysts of the mandible, fibromas, osteomas, and hypertrophy of the retinal pigmented epithelium.
Osteomas are most frequently found in the skull and facial bones. Abnormal dentition is common. Desmoid tumors of the abdominal wall and mesentery occur in 2. Gardner syndrome, usually appear 6- 3. Desmoid tumors are dense fibroblastic proliferations but can present with dysplasia and even fibrosarcoma.
Treatment is challenging. When these tumors are small and well defined, excision is feasible with a recurrence rate of 1. Desmoids that involve the small bowel mesentery should be treated according to their symptoms and growth rate. Sulindac, tamoxifen, or vinblastine and methotrexate are adequate for slow- growing, mildly symptomatic tumors. Aggressive tumors require high- dose tamoxifen, or antisarcoma chemotherapy (doxorubicin and dacarbazine), and possibly radiation therapy. All patients with this syndrome develop carcinoma of the colon as young adults.
Patients may present with chronic bloody diarrhea, hypoproteinemia, weight loss, anemia, malnutrition, bowel obstruction, and intussusception. Hamilton found that families with Turcot syndrome have mutations in APC or HNPCC genes. Hair loss, and skin and nail changes may be evident long before GI symptoms appear. The hamartomatous polyps appear in the stomach and colon.
Chronic diarrhea results in malabsorption, hypovitaminosis, hypoproteinemia, and fluid and electrolyte imbalance. Because patients with Cronkhite- Canada syndrome may develop colonic malignancy, close follow- up is recommended (see Syndromes associated with CRC).
A generalized DNA repair defect is present, likely a defect in DNA ligation; thus, this process has been encompassed in diseases of DNA repair defects such as xeroderma pigmentosum, ataxia- telangiectasia, and Fanconi anemia. The Bloom syndrome gene has been found in chromosome 1.
In this regard, genes involved in DNA repair may be considered tumor suppressor genes. Facial tricholemmomas, oral papillomas, multinodular goiter, and GI polyps with occasional GI cancer may also be found in patients with this syndrome. Fibrocystic breast disease and esophageal glycogenic acanthosis have been described. Germline mutations have been identified in the PTEN gene. Lhermitte- Duclos disease is a variant of Cowden syndrome associated with cerebellar hamartomatous overgrowth. Polyps should be removed when symptomatic, and screening to detect subsequent development of more polyps is warranted.
Ruvalcaba- Myhre- Smith syndrome. This syndrome includes developmental abnormalities, microcephaly, and juvenile polyposis. It is a rare disease that occurs in males. No cancer has been reported in these patients. The polyps are removed when symptomatic, and family screening is advised. Osler- Weber- Rendu syndrome. Also termed HHT, Osler- Weber- Rendu syndrome is an autosomal dominant familial disorder characterized by telangiectases and vascular malformations of the skin and mucous membranes and recurrent GI bleeding.
It may also affect the brain, lungs, and liver. A family history of the disease is reported in 8.