Esophageal lesions has gastroenterologist "stumped"

Posted By Sanford on September 09, 1998 at 14:51:27:







My sister, age 55, Caucasian, Ashkenazi heritage, has suffered for many years from serious GI problems.  Recently, another serious involvement has developed in her esophagus.  Her HMO appointed GP referred her to a gastroenterologist (same one she has known for twenty years).  This specialist has been unable to diagnose her current problem.  She cannot see another specialist without the HMO's approval, which has, so far, not been permitted.  She is scheduled to see her GP again in about a month, who may be able to refer my sister to another specialist, HMO permitting.  In the meantime, my sister continues to suffer serious chest pain and other symptoms.  Any guidance you may be able to give could that could speed up the terribly slow process would be very much appreciated.
Hx:
In the late 1970's: developed extensive giant cell granulomas throughout her duodenum, proximal jejunum,
and most of her stomach.  In 1980, after all conservative treatments failed, a Bilroth II partial gastrectomy and total duodenectomy were performed, with jejunal repair, Roux and "Y" procedures, and a "purse-string" reconstruction of her cardiac sphincter.  Since the vagus nerve was cut, she produces very little or no gastric acid.  She is B-12 dependent.  Over the ensuing years, the purse-string sphincter has eroded, creating virtually no mechanical ability to prevent reflux; thus, all meals must be very small (and frequent), upright position must be maintained, etc.  Propulsid therapy was unsuccessful.
Recent Hx:
Over the past three years, my sister has developed disseminated non-febrile myalgia and arthralgia and other chronic flu-like symptoms.  She has also experienced numerous fibroid breast lesions, gall stones (requiring a cholecystectomy),  and has suffered from chronic sinusitis with frequent overgrowth infections.  Sinus surgeries have been performed twice.
CC:
Approximately six months ago, my sister developed severe substernal pain. When she finally was able to see her GP, cardiac testing was performed with negative results, and a referral was made to gastroenterology..  Given family history, lab tests were conducted to r/o Crohn's, ulcerative colitis, liver function abnormalities, etc.  Most were normal. However, a lab result in May reported positive for ulcerative colitis, although my sister has had no history of bowel problems.  Based on the lab report, the gastroenterologist ordered a B.E. and colonoscopy  (both of which were completely normal) despite the presenting symptoms.  At my sister's begging, and another month's delay, an endoscopy was performed (she believes that the lab results may have been in error, possibly mis-marking ulcerative colitis for Crohn's).
The endoscopy results were significantly ABNORMAL: The entire length of the esophagus was speckled with small, white-ish lesions surrounded with high-level, dark red excoriation and occasional deep ulceration.  The appearance was like a very bad case of white-head pimples!  The total erosion of the reconstructed cardiac sphincter was also noted.  Biopsy showed no evidence of granulomas; in fact, no abnormal cells were seen.  Culture was negative for H.Pylori.
Dx:
The gastroenterologist reported to my sister in early July that he was "stumped" for a diagnosis.  He said that he was waiting for additional lab results to come in (other cultures?) and would contact my again when he had "a better picture of what is happening."  
Prog:
To date (two full months) he has not given any additional information or opinions to my sister, nor even returned any of her telephone messages.  No further tests have been ordered; no consulting referrals have been made.  I question the possibilities that she is suffering from a systemic auto-immune disorder, perhaps of allergic or infectious origin, or perhaps this may be an odd manifestation of Crohn's Disease or Barrett's Esophagus?  Whatever ideas you may have for my sister's problems would be VERY APPRECIATED!  Treatment cannot really begin without knowing what is going on.  It has been 6+ months so far, and no relief.
Family Hx:
The family medical history is very bad.  Very few relatives have lived past their mid-50's.  The disease profile includes:
Heart disease: early onset CAD (father, paternal grandfather, maternal and paternal grandmothers, two aunts, and three cousins, all on father's side -- several complicated with diabetes) in mid-30's. Familial hypercolesteremia (300+ total lipid counts are usual, including self and both brothers).
Cancers: Liver/pancreas (mother, grandfather, aunt, one cousin) in 50's - 70's, all fatal.  Breast (mother, aunt, two first cousins), pre-menopause onset, 40's and 50's  (note: not BRCA-1 related).  GI (mother and one aunt, paternal).
Diabetes: Most relatives on father's side plus maternal aunt.  Also sister's son.  Adult onset type, insulin dependent.
Crohn's: Three first cousins (paternal).
Idiopathic hypercalciurea with osteoporosis, osteoartritis, and kidney stones (both brothers  including me  and several maternal cousins, to best of knowledge).
Tay-Sachs: Self, both brothers, and many cousins (most of those tested) are carriers; one uncle, paternal, died in infancy, presumably from overt disease.