World J. Surg. 15, 41--46, 1991

World Journal of Surgery 9 1991 by the Soci~t~ Internationale de Chirurgie

Diagnosis of Familial Adenomatous Polyposis Steffen B~ilow, M.D., Ph.D. Danish Polyposis Registry, Department of Surgical Gastroenterology, Hvidovre University Hospital, Copenhagen, Denmark Familial adenomatous polyposis (FAP) includes early development of up to thousands of colorectal adenomas and of colorectal adenocarcinoma in all untreated cases. Moreover, a variety of extracolonic manifestations are seen. Proctosigmoidoscopy is used for screening; when adenomas are found, the diagnostic evaluation includes colonoscopy and gastroduodenoscopy. Screening of first degree relatives should start at the age of 10 years, using proctosigmoidoscopy at regular intervals. The recent detection of a specific FAP gene at chromosome 5 and of congenital retinal pigmentations will allow an early preclinical diagnosis in the future. A centralized registration of FAP has resulted in an improved prognosis, and the establishment of international groups will contribute to increased research of this disease.

Familial adenomatous polyposis (FAP) is an autosomal dominant disease which includes the development of up to several thousands of colorectal adenomas and various extracolonic manifestations (Table 1). All untreated patients will develop colorectal adenocarcinoma. The trait was previously termed familial polyposis coli, multiple polyposis, hereditary adenomatosis, or Gardner's syndrome. During recent years, it has been realized that the generally accepted criterion of at least 100 colorectal adenomas [1] can no longer be strictly maintained in young patients. The adenoma formation is a progressive phenomenon and, as a consequence of the systematic surveillance of first degree relatives, a definitive diagnosis of FAP should now be accepted on the basis of a verified family history and a colonoscopic finding of, e.g., 20 adenomas [2]. History

In the period 1881-1882, the first cases of FAP were published and a few years later the development of colorectal carcinoma was reported. The first polyposis registry was established at St.

Mark's Hospital in London in 1925 and, at that time, it was also recognized that FAP was a Mendelian dominant disease. Some years later, early colectomy and ileorectal anastomosis was recommended. In 1951, Gardner reported a polyposis family with "multiple soft and hard tumors," later known as "Gardner's syndrome." In 1975, Bussey published his comprehensive monograph based on the St. Mark's Hospital Polyposis Registry [1, 3]. During the 1980's restorative proctocolectomy was suggested as a possible treatment [4, 5]. During the last 5 years, the FAP gene has been located to chromosome 5 [6] and the international "Leeds Castle Polyposis Group" has been established. This means the beginning of a new era in diagnosis and research of the disease [3]. Genetics and Epidemiology

FAP has an autosomal dominant transmission, i.e., each offspring of an affected family member has a 50% risk of inheriting the disease. The penetrance is about 95% [7, 8]. In several major series, more than 40% of the patients are isolated cases, of whom some may represent fresh mutations [9]. The mutation rate has been estimated to be 13 per million loci per generation

[10]. The mean annual incidence rate is 1.3 per million inhabitants in Denmark, corresponding to a frequency at birth of approximately l : 10,000. This calculation is based on a national registry with an almost complete registration and, therefore, represents a reliable estimate [ 11]. Comparable figures from other national registries range between 1:8,000 to 1:22,000 [7,:8, 12]. The Danish point prevalence rate was 26 per million inhabitants in 1982 [11]. In Danish patients with colorectal cancer younger than 40 years of age, the incidence of FAP was 5% [13]. Pathology

The Danish Polyposis Register has been supported by grants from: The Danish Cancer League (90/045), Egmontfonden, TCmrermester Otto V. Madsen og hustru Irma Madsens familiefond, P.A. Messerschmidt og hustrus fond, Karla Marie JCrgensen legat, BankdirektCr Hans Stener og hustru Agnes Steners legat, Ferdinand og Ellen Hindsgauls fond, and DirektCr Jacob Madsen og hustru Olga Madsens fond. Reprint requests: Steffen B01ow, M.D., Ph.D., Danish Polyposis Registry, Department of Surgical Gastroenterology, Hvidovre University Hospital, DK-2650 Hvidovre, Denmark.


The majority of the adenomas are tubular and almost all are less than 1 cm in diameter. The number varies from approximately 100 to over 5,000 with an average of just over 1,000 [1]. All polyposis patients have rectal adenomas [1, 7, 9]. Early mucosal cellular changes may precede adenoma formation [1]. Adenocarcinoma will ultimately develop if the colon is left un-


World J. Surg. Vol. 15, No. 1, Jan./Feb. 1991

Table 1. Manifestations in FAP.




Colon and rectum Skin Bones Abdominal wall Retroperitoneum Peripheral muscles Stomach

Adenomas Epidermoid cysts Osteomas Desmoid tumors Desmoid tumors Desmoid tumors Fundic gland polyposis Adenomas Hyperplastic polyps Adenomas Adenomas Adenomas -

Adenocarcinoma -

Duodenum Bile duct Small intestine Liver Thyroid Teeth Retina

Abnormalities Pigmentations (CHRPE)

Adenocarcinoma Adenocarcinoma Hepatoblastoma Papillary carcinoma -

treated, as happened in previous generations. Synchronous carcinomas are much more often seen in F A P [8]. The localization of the carcinomas and the tumor stage does not differ from series of nonpolyposis patients, but poorly-differentiated carcinomas are more rarely found in F A P [1].

Extracolonic Manifestations. Up to 20 benign cutaneous epidermoid cysts may be located on the face, back, or extremities and their occurrence may precede the development of colorectal adenomas [14]. Clinically overt benign osteomas may develop in the facial skeleton and the long bones [15]. Pantomography reveals multiple small osteomas in the mandible in about three-fourths of F A P patients [16-19], and their presence is a predictor of future adenoma development [20]. Desmoid tumors are fibromatous tumors that may arise in the anterior abdominal wall, intraabdominally, or at the shoulder girdle. They are most frequently found in women and may grow up to a diameter of 20 cm or more. Desmoids never metastasize, but they show local expansive growth, which may cause severe complications due to intestinal obstruction or ureteral compression. The incidence of desmoids varies from 4% in the Danish Polyposis Registry [9] to 12% at St. Mark's Hospital [1]. Desmoids most often develop after previous surgery, but they may occur before F A P is diagnosed [21]. During the last decade, several reports have demonstrated a high incidence of gastroduodenal polyps in F A P patients. Fundic gland polyposis is found in half of polyposis patients. It is a nonneoplastic condition with hundreds of sessile polyps a few mm in size in the gastric fundus consisting of cystic dilated fundic glands without epithelial dysplasia [22-26]; the condition may also occur in nonpolyposis patients [27]. Benign hyperplastic gastric polyps are occasionally found [22, 26]. In Western countries, gastric adenomas and carcinomas are rare findings [25, 28], as opposed to a Japanese series [23]. Duodenal adenomas have been found in the majority of polyposis patients and the incidence seems to increase with age [8, 29]. Up to about 50 adenomas are found in the second and upper third part of the duodenum, including the papilla of Vater. The polyps are most often 3-5 mm, irregular, paler than the surrounding mucosa, and often located on the mucosal folds. Histological

examination shows tubular adenomas with varying but predominantly mild or moderate epithelial dysplasia [30]. Duodenal adenomatous polyposis can be classified in 4 stages according to polyp number, size, histological type, and dysplasia [31]. It is noteworthy that even normal-appearing duodenal mucosa may demonstrate early adenomatous changes at histological examination [22, 25]. Duodenal or periampullary carcinomas occur in F A P patients with a 100-fold risk compared with the general population [27]; 40% have synchronous adenomas [32]. In some patient series periampullary cancer has now become the most Common cause of death following colorectal cancer [33]. In Denmark, however, only 2 patients (1%) of 247 have died from a periampullary carcinoma [9]; this discrepancy may be explained by selection bias between specialized polyposis centers and national polyposis series. Small intestinal adenomas have been found in a few patients; they may even occur in a Kock pouch or in an ileoanal pouch many years after restorative proctocolectomy [34-37]. Only a few small intestinal carcinomas and pancreaticobiliary adenomas have been reported [38-41]. Papillary thyroid carcinoma has been found in 23 F A P patients--nearly all women. The risk of a female F A P patient developing carcinoma of the thyroid has been estimated to be 100-160 times the risk in the normal population [42, 43]. Hepatoblastoma has been reported in 25 unaffected children of FAP patients; 6 of 11 survivors have later developed polyposis [44]. Dental abnormalities were found in 17% of F A P patients; 11% had supernumerary teeth and 9% had impacted permanent teeth, and these figures are significantly higher than in the normal population [45]. In several recent studies, ophthalmoscopy has demonstrated multiple bilateral lesions of congenital hypertrophy of the retinal pigment epithelium (CHRPE) in most affected polyposis family members. Using the presence of 4 or more bilateral lesions as a criterion, 60%-80% of F A P patients prove positive and the diagnostic specificity is almost 100% [46-49]; however, in one study, families seem to fall into 2 groups: in two-thirds of families, all affected members had CHRPE, and in the remaining families, none had lesions. Among 33 unaffected first degree relatives at risk in " C H R P E - p o s i t i v e " families, 39% had retinal lesions and a few of these later developed adenomas during a follow-up of 2 years. In the " C H R P E - n e g a t i v e " families, none of 18 unaffected first degree relatives had CHRPE and none have developed adenomas. In conclusion, the predictive value of CHRPE as a marker for F A P in " C H R P E - p o s i t i v e " families seems to be 100%, but the follow-up is short [48]. Natural Course

The natural course of F A P can be divided into 3 stages: the preclinical, adenoma, and carcinoma stages. Information about the length of the preclinical stage is limited and based on minor series of unaffected family members at risk who underwent regular proctosigmoidoscopic surveillance. At the end of 1989, a total of 36 Danish first degree relatives had been followed with biannual proctosigmoidoscopy from normal findings to adenoma development. The median age at diagnosis of adenomas was 16.5 years (mean age: 19 years) with a range of 5-56 years (Fig. 1). The adenoma stage can be subdivided into a latent stage and a symptomatic stage. In the Danish series of

S. Biilow: Familial Polyposis: Diagnosis


NO, 6" 5 4' 3" 2' 1 C






25 30 35 Age in years




55 59

Fig. 1. Age at development of FAP in 36 first degree relatives followed with proctosigmoidoscopy from normal findings to adenomas.

probands, the median age at the first bowel symptoms (bleeding, diarrhea, and discharge of mucous) was 29 years, and the median age at diagnosis of FAP was 33 years. The carcinoma stage is defined as the period of time from diagnosis of colorectal carcinoma to eventual death from colorectal carcinoma. In the Danish series of probands, the median age at diagnosis of colorectal cancer was 36 years, and the median age at death from cancer (in untreated cases) was 40 years. The youngest Danish patient with colorectal cancer was 17 years [9]. These ages are all very similar to those reported by others [1, 7]. Initial Diagnosis

It is generally agreed that rigid proctosigmoidoscopy is the method of choice for an initial diagnosis of FAP since all polyposis patients have rectal adenomas [1, 7, 9]; however, flexible sigmoidoscopy may be used as an alternative [50]. If no polyps are found at proctosigmoidoscopy, a further examination of asymptomatic first degree relatives with barium enema, sigmoidoscopy, or colonoscopy is unnecessary. Even if it is assumed that FAP may occasionally start with only colonic adenomas, rectal adenomas will develop after an interval which is too short to cause any significant delay in adequate treatment. If proctosigmoidoscopy reveals polyps, several of these should be removed for histological examination since the endoscopic suspicion of FAP must be followed by a histological verification before any decision about therapy can be made. Further Diagnostic Evaluation

After the diagnosis of FAP has been histologically confirmed, a total colonoscopy with multiple polypectomies should be carried out in order to rule out the development of carcinoma(s) and to allow evaluation of the degree of epithelial dysplasia in the adenomas. Patients over the age of 20 years should be examined with gastroduodenoscopy in order to detect possible gastroduodenal polyps. Large gastric polyps should be biopsied or removed by snare if possible, and a suspicion of fundic gland polyposis should be confirmed by biopsies. If duodenal polyps are found, multiple biopsies should be taken, and a side-viewing endoscope should be inserted for inspection and biopsies of the

papilla of Vater [51]. If no duodenal polyps are found, multiple random biopsies should be taken from normal-appearing mucosa. In patients without any gastroduodenal adenomas (endoscopically and histologically), the examination may be repeated at 5-year intervals, but in patients with adenomas, endoscopy should be repeated every 1-2 years, depending on the degree of dysplasia. When planning the intervals of the control, the recently proposed staging of duodenal adenomatous polyposis [31] may be used for selecting those individuals at the highest risk for malignancy. If an intraabdominal desmoid is clinically suspected, a computed tomography scan (CT) should be performed in order to obtain an exact evaluation of the size and extension [52], but a routine CT scan in order to diagnose an asymptomatic desmoid is unnecessary since it has no therapeutic consequences. Screening

In Denmark, the first prophylactic proctosigmoidoscopy is recommended at the age of 10 years since children will then be accustomed to regular examination before puberty [53]. We recommend examination at biannual intervals until the age of 40 years and thereafter at longer intervals up to the age of 60 years. Provided the findings are normal, the risk of development of adenomas is then considered minimal [11]. Since 1978, the Danish Polyposis Register has coordinated a nationwide regular proctosigmoidoscopic surveillance of first degree relatives of affected family members. At the end of 1989, the register included 480 living first degree relatives of affected family members. Among these, 354 were 10-59 years of age and living in Denmark, 39 have refused examination despite information about the disease, and 47 have not yet been examined, while the remaining 268 have been examined and found free of rectal adenomas. Due to the high diagnostic sensitivity and specificity of CHRPE, it is now generally agreed that ophthalmoscopy including wide-angle fundus photography should be used as a supplementary screening method in clinically unaffected first degree relatives. Based on the use of the restriction fragment length polymorphism method and the use of DNA probes, Bodmer and associates [6] reported in 1987 that the FAP gene is assigned to chromosome 5, most probably near bands 5q21-q22. Even though the exact localization of the gene or its sequence is not yet known, the use of linked gene markers now allows a preclinical detection of FAP gene carriers with a reliability of nearly 100% [54]. As mentioned above, a pan-tomographic detection of multiple osteomas in the mandible has been used as a screening method [55]; however, due to the detection of the FAP gene, the high diagnostic sensitivity of CHRPE, and the lower diagnostic sensitivity of pan-tomography, this method can no longer be recommended as a diagnostic method. Screening for FAP is now becoming an increasing interaction between basic and clinical research, and the present status can be illustrated by a recent study. Based on 34 unaffected first degree relatives followed from normal findings at proctosigmoidoscopy, Slack calculated the cumulative risk of developing FAP with advancing age. Combining a negative endoscopy and a negative result of linked gene markers, the risk was less than


1% at age 22. If ophthalmoscopy showing no CHRPE was added, the future risk of developing FAP at 30 years of age will have diminished to less than 1 in 1,000 [56]. In the future, clinical examination with regular proctosigmoidoscopy of first degree relatives can be limited to 2 main groups. In DNA-informative families, FAP gene-positive individuals should undergo regular proctosigmoidoscopy in order to evaluate the time of development of adenomas. In noninformative families (including offspring of dead isolated cases), first degree relatives must continue regular proctosigmoidoscopy according to the present guidelines. Current research in immunology, biochemistry, cell biology and molecular biology is dealing with the challenge of finding other methods of a preclinical diagnosis of FAP, and promising although yet not clinically applicable preliminary results have been published in several fields: fecal cholesterol and bile acids, biological properties of in vitro cultured skin fibroblasts, ornithine decarboxylase activity in colorectal mucosa, mucin abnormalities in colorectal mucosa, IgG heavy chain (Gm) allotypes, colorectal mucosal calcium responsiveness, cell kinetics of colorectal mucosa, and sialic acid content in colorectal mucosa [57, 58]. Registration

The positive effect of registration of polyposis families was already described by Lockhart-Mummery in 1925 based on the experience from the first polyposis register at St. Mark's Hospital in London [ 1]. Since then, national registers have been established in Sweden, Denmark, Norway, Finland, Holland, Poland, and Japan [7, 12, 59-63], and several regional registers have been initiated all over the world. The aim of the registers is to improve the prognosis of polyposis patients and the effect has been fully proved by the highly significant difference in the incidence of colorectal cancer between probands and call-up cases [9, 53, 61, 64, 65]. At the diagnosis of FAP, 67% of Danish probands had carcinoma in contrast to only 2% among call-up cases diagnosed as a result of a prophylactic examination. Furthermore, the Danish figures show a significant improvement in the prognosis of the total group of polyposis patients after the establishment of the register [9]. The Danish Polyposis Register was established in 1976. Probands were ascertained by direct reports from local hospitals, examination of medical journals of young patients with colorectal cancer [13], and via the National Patient Registry. Furthermore, a notice in the Danish medical paper announced the establishment of the register and called for information about polyposis cases. The pedigrees of the probands were then set up according to genealogical and medical information about relatives from hospitals, family doctors, death certificates, autopsy reports, local population registers, and the Central Population Register. Since 1978, a nationwide continuous screening program of first degree relatives has been carried out. At the end of 1989, the register included 394 polyposis patients, of whom 196 were probands and 112 had been diagnosed as a result of prophylactic examination (call-up cases). The completeness of registration was estimated to be 90% in 1982, and the identification of FAP cases in Denmark may, therefore, be considered almost complete [11].

World J. Surg. Vol. 15, No. 1, Jan./Feb. 1991 International Cooperation

In 1985, the "Leeds Castle Polyposis Group" (LCPG) was established as an international research forum including representatives from major polyposis centers [66, 67]. The establishment of the group has significantly increased the possibility of international research of polyposis, especially in aspects which cannot be evaluated sufficiently in small patient series. Recently, a common data set for polyposis registries has been agreed. Multicenter studies have been planned and carried out concerning problems in the clinical field as well as in basic science. In 1989, a European polyposis group (EuroFap) was established with economic aid from the European Economic Community. The group cooperates with the LCPG and will coordinate research in molecular genetics and initiate national or regional registers in European countries in which a central registration has not yet been established. R6sum6

Dans la polypose adrnomateuse familiale (PAF), on peut voir se drvelopper plusieurs milliers d'adrnomes colorectaux et un authentique adrnocarcinome survient dans tousles cas non traitrs. On peut 6galement observer de nombreuses autres manifestations extracoliques. La proctosigmoidoscopie est l'examen de choix pour le drpistage; lorsque l'on volt des adrnomes, il faut complrter les investigations par une coloscopie totale et une duodrnogastroscopie. Il faut 6galement proposer l'examen de tousles parents au premier degrr, d~s l'fige de 10 ans, par une proctosigmoidoscopie ~t intervalles rrguliers. La drtection rrcente d'un g~ne PAF localis6 au chromosome 5 et l'existence de pigmentations rrtiniennes congrnitales devraient permettre ~t l'avenir une drtection prrclinique. Un registre centralis6 de PAF a amrlior6 le prognostic et la constitution de groupes de travail internationaux devrait contribuer ~ augmenter nos connaissances sur cette maladie. Resnmen

La poliposis adenomatosa familiar incluye el desarrollo temprano de hasta miles de adenomas colorrectales y de carcinoma en la totalldad de los casos no tratados. Los pacientes presentan, ademfis, una variedad de manifestaciones extracolrnicas. Para el tamizaje se utiliza la proctosigmoidoscopia; cuando se detectan adenomas, la valoraci6n diagnrstica debe incluir colonoscopia y gastroduodenoscopia. E1 tamizaje de los famillares de primer grado de consanguinidad debe comenzar a la edad de 10 afios, mediante la realizacirn de proctosigmoidoscopia a intervalos regulates. La reciente deteccirn de un sen especffico de la poliposis adenomatosa familiar en el cromosoma 5 y de pigmentaci6n retiniana congrnita permitirfi establecer un diagnrstico preclinico precoz en el futuro. E1 registro centralizado de la poliposis adenomatosa familiar ha resultado en mejor diagnrstico, y el establecimiento de grupos internacionales habrfi de contribuir al incremento de la investigaci6n sobre esta enfermedad. References

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51. 52.

53. 54.

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Diagnosis of familial adenomatous polyposis.

Familial adenomatous polyposis (FAP) includes early development of up to thousands of colorectal adenomas and of colorectal adenocarcinoma in all untr...
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