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At a glance

Hereditary desmoid disease (HDD) is a variant of familial adenomatous polyposis (FAP) characterized by benign extraintestinal growths of fibrous tissue (hyperproliferation of epithelial mesenchymal tissues) that form either spontaneously or after surgery. These tumors can become large and aggressive, compressing abdominal organs.

Synonyms

Aggressive Fibromatosis; Familial Infiltrative Fibromatosis (FIF).

Incidence

Up to 13% of patients with FAP have associated desmoid disease (FAP affects 1:8,000 individuals). The incidence of HDD remains to be determined.

Genetic inheritance

Autosomal dominant with 100% penetrance. It is caused by germline mutation in the APC gene. The majority of mutations affect the adenomatous polyposis coli (APC) gene (a tumor suppressor) on chromosome 5 distal to the beta-catenin-binding domain (5q15-22). New mutations account for 20 to 30% of families affected with this condition (direct mutation testing is required to establish diagnosis).

Pathophysiology

The APC gene is a tumor suppressor. The APC protein seems to act like a cell-signaling protein. Mutations in the APC gene are responsible for generating slowly growing fibrous masses consisting of bundles of spindle cells with variable amounts of collagen. Hereditary desmoid disease occurs with or without colonic polyposis and consists of infiltrative fibromatosis of connective tissues invading multiple parts of the body. Desmoid tumors may also present as extracolonic manifestations in some patients with FAP.

Diagnosis

Based on clinical aspect, familial history, genetic studies, and tissue biopsy.

Clinical aspects

HDD patients develop multifocal fibromatosis: arms, breast, paraspinal muscles, occiput, lower ribs, abdominal wall, and mesentery. Desmoid tumors may proliferate in various areas: arms, ribs, breasts, occiput, mesentery, abdominal wall, and paraspinal muscles. Epidermal cysts and osteomata of the skull and mandible, as well as scoliosis caused by desmoid disease, have been described. Desmoid tumors located intraabdominal are not considered malignant per se, but their local aggressiveness and recurrence after surgical removal are frequent. These tumors usually remain asymptomatic but can exhibit symptoms due to intestinal, vascular, and ureteral compression and obstruction. Although some families with HDD are predisposed to colonic carcinoma, colonic polyposis is rare. Up to 90% of FAP patients have congenital hypertrophy of the retinal pigment epithelium (<40% of control patients).

Precautions before anesthesia

Inquire about associated familial colonic polyposis (anemia). Inquire about the location of the lesions to be excised (some locally invasive desmoid tumors may be close to major blood vessels). Obtain hemoglobin level and blood cell count.

Anesthetic considerations

Anesthesia preparation for acute abdomen surgical procedure must include the usual considerations for this clinical condition. The extrinsic compression of vital organs caused by the presence of large desmoid tumors will engage complex anesthesia management determined by the organ affected (eg, major vascular ...

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