Frequently Asked Questions - Familial Carcinoid / Men1

Only 1-2% of carcinoids are familial. If you have symptoms suggestive of carcinoid syndrome, the tests to do are urine 5-HIAA, blood serotonin, tryptophan and chromogranin A. All large commercial laboratories can do these tests and your family doctor can order them if s/he understands them, otherwise they can be ordered by an endocrinologist, oncologist or general internist. They are expensive, but often covered by most health insurance plans.

4% of carcinoids are hereditary.  The best known of the 2 varieties of inherited carcinoids is associated with the MEN-1 syndrome in which 50% of the family develop the condition which is almost always associated with the presence of other endocrine tumors.  These other tumors usually involve the parathyroid glands in the neck and/or the pancreas and core symptoms of their own.  There is an obvious strong family history in these cases which can be proved by appropriate blood tests as well as blood chromosomal testing for the MEN gene.  This test is expensive but worthwhile in at least the 1 member of such a suspect family who has had proven carcinoid.  If that person tests positive it is almost certain that the family has the inheritable condition.

The 2nd type of inherited carcinoid is “familial carcinoid” which can occur without any other endocrine tumors and is more erratic in the percent of family members who will be afflicted.  There is no test for a suspected family with carcinoid at the present time.  The diagnostician must rely on the family history and careful testing for obscure carcinoid.  The entire panel of carcinoid chemical markers should be tested as well as all clinical imaging techniques should be utilized such as OctreoScan, CT scan, upper and lower GI endoscopy, wireless capsule endoscopy, etc.  I am participating in studies of familial carcinoid at the NIH which are presently underway.

Over 50 cases treated, over 10 years longest survival rate. For more information about pancreatic neuroendocrine tumors and adenocarcinoma we suggest that you visit the Pancreatica.org website.
The familial occurrence of carcinoid is a recognized but exceedingly rare event. This occurrence in two first cousins is suggestive. A blood test of DNA for the chromosomal abnormality thought to be present in the genetic aberration in such cases is under study and development at present. Hopefully it will be perfected and available for general clinical use in a few years. Until then surveillance of individuals thought to be at risk should, in my opinion, consist of yearly testing of urine 5-HIAA and blood serotonin, tryptophan, chromogranin A and substance P starting after the second decade of life.

There are several types of carcinoid and related neuroendocrine tumors which are genetically determined and are inherited conditions.  They are quite rare, as a group comprising only 4% of all carcinoids. One type in particular, known as familial carcinoid, is very rare but must be considered when two family members have had carcinoid or other NETs. There is no preventive treatment, but early diagnosis could cure the condition if found in an early stage in an individual. Blood and urine markers should be tested at least once a year and OctreoScan as well as CT scan of the abdomen with IV contrast should be considered.