Familial adenomatous polyposis_ associations, variants and more maji s, saha ml, kanwar ks – astrocyte

Familial adenomatous polyposis (FAP) is the most common adenomatous polyposis syndrome. Ebus bronchoscopy It affects all age groups and all races. What is bronchoscopy Almost all patients with FAP develop colorectal cancers in the absence of surgery.


Fibre optic bronchoscopy A number of variants of FAP have been described, out of which Gardner syndrome is one subtype. Colonoscopy video youtube Indian data on FAP or its rarer variants is scarce and limited to isolated case reports due to its low incidence. What is a bronchoscopy [1] We herein report five cases of FAP treated in our hospital and illustrate challenges in the management. Colonoscopy deaths per year The case series also highlights the interesting case of the fifth female who presented with synchronous duodenal adenocarcinoma and colonic adenocarcinoma in the background of multiple polyps in the entire colon. Bronchoscopy test The case amply highlights the need of increased awareness of the syndrome and its variants while treating patients with polyposis-related conditions along with a center of referral where facilities for screening, counseling, genetic tests, surgery, and tumor banking and multidisciplinary facilities are available.

How to cite this URL: Maji S, Saha ML, Kanwar KS. Bronchoscopy biopsy Familial adenomatous polyposis: Associations, variants and more. Bronchoscopy complications Astrocyte [serial online] 2016 [cited 2017 Jan 31];3:118-20. Post colonoscopy instructions Available from: http://www.astrocyte.in/text.asp?2016/3/2/118/197254

Familial adenomatous polyposis (FAP) is a rare disease. Bronchoscopy images The reported incidence of the disease ranges from 1 in 7000 to 1 in 22,000. Post colonoscopy care The exact incidence of the disease in India is not known perhaps due to its rarity. How long does a bronchoscopy take It is an autosomal dominant disease with high penetrance. Bronchoscopy video The affected individual develops hundreds of colorectal polyp typically at puberty, which are benign to begin with but turns malignant by the fourth or fifth decade of life. Bronchoscopy indications Although FAP accounts for <1% of all colorectal cancers, chance of developing colorectal cancer without appropriate intervention in the form of prophylactic surgery is nearly 100%. Colonoscopy procedure code We here present five cases of FAP treated and managed successfully in our hospital during July 2012 to June 2014. Colonoscopy surgery The first three patients belong to the same family while the rest two are sporadic cases of FAP.

Two sisters presented to us with similar complaints of prolonged bleeding per rectum while their younger brother was asymptomatic and screened for possible polyposis. Colonoscopy deaths The elder sister also complained of sensation of mass per rectum. Colonoscopy biopsy results Both of them also complained of occasional dull aching pain in abdomen and on and off passage of mucous per rectum. Colonoscopy aftercare However, none of them reported loss of weight, anorexia, nausea, vomiting, hematemesis, or abdominal swelling or lump elsewhere in the body. Colonoscopy findings Both of them were well nourished at presentation. Colonoscopy definition The age range of presentation was 13-16 years. Bronchoscopy definition Physical examination was unremarkable except that both were moderately anemic. Colonoscopy perforation Perrectal examination revealed pedunculated polyps in the elder sister only while pervaginal examination was normal. Bronchoscopy results There was no history of colorectal or gastrointestinal (GI) cancers in the family. Colonoscopy complications symptoms However, there was a history of consanguinous marriage between their parents.

Based on clinical history, all of them underwent full-length colonoscopy and biopsy from suspected polyps. Post colonoscopy side effects Upper GI endoscopy was normal in both the siblings. Endoscopy medical definition Colonoscopy revealed multiple polyps ranging from 1 to 2 cm in size carpeting the entire colon of both the sisters [Figure 1]a and b, while in case of their younger brother 3 polyps were found to be present. Bronchoscopy risks Based on biopsy, a diagnosis of juvenile polyposis was made in their younger brother and he has been planned for follow-up.

The third female presented to us with the complaints of loose stool and bleeding per rectum for the last 6 months. Colonoscopy preparation tips She was cachectic and anemic on general survey. Colonoscopy polyps found She did not have any family history of colonic polyposis or malignancy. Endoscopy biopsy Her biochemical parameters revealed low albumin and hemoglobin values. Colonoscopy complications She was put on high rich protein diet for the same. Bronchoscopy with biopsy On colonoscopy, she had multiple colonic polyps. Endoscopy biopsy results Upper GI endoscopy was normal. Bronchoscopy procedure Her surgery was delayed for a month due to poor nutritional status.

The fifth female presented to us with vague abdominal pain, loss of weight, and loose stool. Bronchoscopy with bal She also had clinical jaundice. Ebus bronchoscopy Her general survey also revealed the presence of multiple facial osteomas along with impacted teeth. What is bronchoscopy Her family history revealed the presence of other first- and second-degree relatives with similar osteomas. Fibre optic bronchoscopy She did not have any extra-abdominal desmoid or epidermal cyst. Colonoscopy video youtube Based on the above findings, she was diagnosed to be a case of Gardner syndrome [Figure 2]. What is a bronchoscopy On upper GI endoscopy, she was found to have duodenal growth, biopsy of which was reported as duodenal adenocarcinoma. Colonoscopy deaths per year Her colonoscopy revealed the presence of numerous polyps of different sizes. Bronchoscopy test Biopsy from them also revealed adenocarcinoma. Bronchoscopy biopsy She was planned for pancreaticoduodenectomy and proctocolectomy, but she denied such major operation and decided to be under close surveillance. Bronchoscopy complications A family screening for colonic polyposis was advised. Post colonoscopy instructions However, her family members did not turn up for the same.

All of the above patients (except the male child) underwent eye examination for retinal abnormalities. Bronchoscopy images However, none had any significant ophthalmological finding. Post colonoscopy care The two siblings from the same family and the third patient in the series underwent proctocolectomy with ileoanal pouch anastomosis and proximal ileostomy [Figure 3]. How long does a bronchoscopy take The fifth patient denied operation and the young child had been put under regular surveillance. Bronchoscopy video Postoperatively, the first two patients developed diarrhea which was managed conservatively. Bronchoscopy indications The third patient developed minor wound infection and wound discharge which also subsided with antibiotics and wound dressing. Colonoscopy procedure code Ileostomy closure was done in all the three of them after 8 weeks.

The patients are healthy on 8 months follow-up. Colonoscopy surgery The younger brother is under observation and on regular follow-up. Colonoscopy deaths The fifth patient, a female, was lost to follow up.

FAP is a genetic disorder which accounts for 1% of colorectal cancer. Colonoscopy biopsy results [1], [2], [3] It is an autosomal dominant condition with 100% penetrance. Colonoscopy aftercare Majority of the patients develop colorectal cancer unless detected early and managed by prophylactic removal of the colon and rectum. Colonoscopy findings The underlying defect is a germline mutation in APC gene. Colonoscopy definition A number of variants of FAP such as Turcot syndrome, attenuated adenomatous polyposis coli, MYH-associated polyposis, and Gardner syndrome have been described. Bronchoscopy definition Gardner syndrome occurs in 10% of patients with FAP. Colonoscopy perforation [4]

The frequency of FAP – Gardner syndrome is 1 in 12,000 live births to 1 in 4000 live births. Bronchoscopy results Most patients with FAP are asymptomatic until they develop cancer. Colonoscopy complications symptoms As a result, diagnosing presymptomatic patients is essential. Post colonoscopy side effects Of patients with FAP, 75-80% have a family history of polyps and/or colorectal cancer at age 40 years or younger. Endoscopy medical definition Patients may develop extraintestinal manifestations such as congenital hypertrophy of retinal pigment epithelium, sebaceous cysts (51%), desmoids tumors (26%), and in lesser proportions, osteomas, lipomas, dental abnormalities (impacted or unerupted teeth, hypodontia, or compound odontomas) (Gardner syndrome), and extraintestinal malignancies; hepatomas, retinoblastomas, and brain tumors (Turcot syndrome). Bronchoscopy risks [4], [5], [6], [7]

The standard mode of diagnosis and screening is colonoscopy and biopsy of the suspected polyps. Colonoscopy preparation tips [8], [9], [10] The treatment of choice in FAP patients is restorative proctocolectomy with ileal pouch-anal anastomosis. Colonoscopy polyps found The second most common malignancy (after colorectal carcinoma) in patients with FAP is adenocarcinoma of the duodenum and the papilla of Vater. Endoscopy biopsy It affects as many as 12% of patients. Colonoscopy complications Hence, routine upper GI endoscopy in these patients is recommended.

The five cases described herein had all classical symptoms of FAP and were managed according to accepted guidelines. Bronchoscopy with biopsy Interestingly, none of the five had any extracolonic manifestation of the disease. Endoscopy biopsy results However, due to inavailability of genetic testing at our center and lack of counseling services, neither of them could be provided with the same. Bronchoscopy procedure Furthermore, due to low general awareness of the syndrome among the common populations, other family members could not be convinced for screening and follow-up. Bronchoscopy with bal Due to unavailability of tissue banking facilities, tissues could not be stored for further studies. Ebus bronchoscopy The patient with a Gardner syndrome presented unique management challenges as synchronous duodenal adenocarcinoma and colorectal carcinoma in the setting of FAP has never been reported before. What is bronchoscopy We failed to find out treatment protocol for the same even after extensive search of literature. Fibre optic bronchoscopy Adequate management of such patients would require a combined team of surgeons, oncologist, dentist, geneticist, ophthalmologist, and a counselor. Colonoscopy video youtube Better treatment outcomes can only be obtained through regionalization of all such cases to dedicated/higher centers. What is a bronchoscopy Hence, development of such centers and polyposis registries is suggested. Colonoscopy deaths per year Further, the series highlights the importance of early diagnosis to prevent development of florid cancers as was seen in the case of Gardner syndrome.

Early diagnosis of FAP is key to its successful management. Bronchoscopy test Development of higher centers of referrals would help in better treatment outcome. Bronchoscopy biopsy Awareness in the general population and physicians can help in their prompt referral and diagnosis.