Legal Nurse Consulting News: Celiac Disease Approaches the Bench: A Case Study

Thursday, December 03, 2009

Does a 23-year-old female patient recently diagnosed with celiac disease (CD), having spent years suffering the disease's manifestations, have any legal recourse for the missed diagnosis? Are the physicians who treated her for 13 years for anemia, fatigue, bone pain, Reynaud's disease, and dermatitis - none of whom diagnosed celiac disease - responsible for that suffering? During the period of 1991-2005, was ruling out gluten sensitivity, gluten intolerance, or celiac disease within the standard of care for a patient who presented with the same history and clinical findings as the subject of this case study? CD has not been extensively researched and is not a well-known disease. It is prevalent, however, as confirmed by information from the Celiac Disease Center at Columbia University in New York, under the direction of Peter H.R. Green, MD. By far the most noteworthy are Green's stories of patients who have endured this disease for years before being diagnosed, including the anecdote of one patient, an anesthesiologist married to an internist (both of whom work in a major city at a major medical center flooded with physiciansin all specialties), whose condition went undiagnosed for 43 years (Green and Jones, 2006). This begs the question:Is this malpractice or misdiagnosis, or both?The DiseaseCeliac disease (CD) is an auto-immune, hereditary disorder resulting in a chronic inflammatory condition of the small bowel. Gluten, a protein that is found in wheat and wheat products, is the culprit. When gluten enters the bloodstream, the body's immune system produces gliadin antibodies in the intestine. Physiologically, an intramucosal enzyme defect produces the inability to digest gluten. The result is poor absorption of nutrients and atrophy of the villi in the small intestine. Life-long adherence to a gluten-free diet is the best and only known treatment. Failure to maintain the gluten-free diet may result in more advanced and serious disease processes, such as a shortened life expectancy, intestinal lymphoma, pancreatic disease, osteoporosis, infertility, internal hemorrhaging, and others. The function of the digestive system involves the processes of digestion, absorption, and elimination. During digestion and enzymatic breakdown, the food is passed from the stomach into the duodenum. Intraluminal processes involve biliary and pancreatic secretions that result in enzymatic hydrolysis. Absorption takes place when the food products pass across the villi, which are small hair-like projections in the folds of the small intestine. In patients free of CD, the villi slow the process down and allow for maximum absorption of the nutrients. CD destroys these villi and malabsorption results. Over time, the villi atrophy. The nutrients that are normally allowed to be absorbed into the bloodstream at thistime are eliminated.CD is also referred to as 'The Great Imitator,' in that its symptoms are similar to those of many other diseases. The most common symptoms are chronic fatigue, gastrointestinaldistress, diarrhea, gastro-esophageal reflux disease (GERD), dyspepsia, iron deficiency anemia, bone or joint pain, Reynaud's disease, hypocalcemia, and others. Many patients are seen with some or many of these symptoms and diagnosed with irritable bowel syndrome, Crohn's disease, colitis, or a host of other conditions including anorexia, schizophrenia, and malingering. Many patients have seen physicians in many specialties trying to find a cause for their symptoms, and after being diagnosed, it becomes clear that there is a marked lack of awareness of CD.This is not a new condition, despite the lack of awareness. In fact, the Omaha-based Celiac Sprue Association (n.d.) reports that Aretaeus of Cappadocia, a Greek physician who practiced in Rome in 250AD, used the term 'celiacs' to describe the 'sufferers of the bowels.' In 1888, British physician Dr. Samuel Gee presented information regarding CD in both children and adults (Gee, 1888). A discussion of the disease appears in Text-Book of Medical Diagnosis (Anders, 1914). Dr. Willem Karel Dicke wrote about the subject back in 1952 (van Berge-Henegouwen and Mulder, 1993). The following case consisted of reviewing 13 years of physician visits, hospital treatment and stays, laboratory results, and client interviews, all in an effort to determine whether or not there was in breach in the standard of care and whether the case had merit.A Case StudyIn 1992, a 9-year-old Caucasian female of Irish decent, in otherwise good health, presented to her general practice pediatrician stating that she was constantly tired and it was hard to wake up for school in the morning. She was given over-the-counter (OTC) ferrous sulfate for her iron deficiency anemia and advised to get more sleep. There were no laboratory tests requested at that time. She was also referred to and seen by a dermatologist who placed her on Ceftin, 125mg twice daily for acne. This patient had been a professional dancer since age 6 and had been dancing since age 2. She practiced for several hours at least 4 evenings a week. She expended a lot of energy,and for a midwestern pre-pubescent, she ate a relatively healthy diet, devoid of junk food. She was aware of her image and understood the value of good nutrition.The scenario continued with little change for several years. The patient saw her pediatrician on a regular basis, and the hematocrit and hemoglobin levels continued to be below normal (Hgb - 8.6 g/dl and Hct - 26.7% with normals of Hgb 11-16g/dl and Hct 31-45%.) The physician's disposition was to take OTC ferrous sulfate, stating, 'It's important that she take it everyday.' The patient complied. In 1998, at the age of 15, the patient continued to complain of chronic fatigue and also experienced hip pain. Additionally, she experienced gastric reflux disease, which may have begun developing. Born in Los Angeles and having moved to the mid-west, she was symptomatic of Reynaud's disease because she was experiencing winter for the first time. Regarding the hip pain, her parents were concerned not only about her health, but also about her professional future as a performer. Her pediatrician referred her to a rheumatologist. Blood tests were ordered, and the results were not surprising: Hbg - 9 g/dl and Hct - 28.1%. Her cytomegalovirus (CMV)evels were increased above the normal of 1.8 to 2.55, and her EBV (Epstein-Barr Virus) levels were 2.55 (normal: negative)This doctor suspected drug-induced Systemic Lupus Erythematosus (SLE). The diagnosis was R/O SLE and arthralgia. The patient was advised to continue with the ferrous sulfate, and she was referred to an orthopedist and a hematologist. The orthopedist ordered and completed a dye study on her affected hip; the results were within normal limits. The hematologist repeated the blood studies with basically the same results. This hematologist, a renowned Professor of Medicine at a very respectable U.S. medical center, practicing hematology for more than 20 years, diagnosed the patient with iron deficiency anemia. The doctor prescribed ferrous sulfate, 325mg 3 times a day and ordered the patient to return in 8 weeks for repeat blood tests.The patient's parents were exasperated, the claim forms were piling up, the patient responsibility section on the claim forms amounted to a tidy sum, the whole family was tired of going to doctors, and the patient was still fatigued. In an effort to move on from the pediatrician to an internist, the patient and her parents found a physician with a real desire to find the problem. Blood tests were ordered, and the results were as follows:T4: WNL, suggested normal thyroid function Electrolyte Panel: WNL, suggested normal kidney function Hepatic Function Panel: WNL, suggested normal liverfunction H&H: below normal, suggested anemia ANA Titer: 1:80, suggested evidence of Reynaud'sDisease Systemic sclerosis, lupus, Sjogrens syndrome and polymycitis were all ruled out. She was now left with the diagnosis of iron deficiencyanemia.Although the patient was dealing with fatigue and stomach problems, she was now focused on her career. She auditioned for a Broadway show in New York, and shortly thereafter she was offered a contract. She moved to New York and performed 8 times a week in a Tony Award-winning musical for 4 years. She met new friends and was enjoying her career. At an informal gathering, a friend described his wife, who suffered from CD, as having the same symptomsas the patient. He suggested that she should eliminate wheat from her diet and see if that was the problem.It was. Within 2 weeks after becoming gluten free, all of the symptoms were gone. She really never knew 'normal,' but this new-found energy was great. She researched CD and wanted to be tested. She found a gastroenterologist and scheduled an appointment. She soon realized that she would have to endure the symptoms again, since she had to have a gluten presence in her system prior to the blood tests. She was tested, and to her satisfaction the results were: positive for the endomysial antibody and 23.5 U/ml of tissue transglutaminase - IaG serological markers for celiac disease detected - Celiac disease is highly likely.The patient began to read every piece of information available on CD. She embraced the gluten-free diet andsought out restaurants offering gluten-free menus. In addition to dealing with her new lifestyle, she was determined to find out how she acquired CD. She discovered Celiac disease: A hidden epidemic (Green and Jones, 2006), Wheat free, worry free (Korn, 2002), The gluten-free bible (Lowell, 2006), and the Celiac Disease Center at Columbia University.In addition, she began to research DNA testing to discover who in the family could be predisposed to CD (Danielle Young, Genetics Counselor, personal communication, June 14, 2007). The CD markers are DQ2 and DQ8. Some 90% of celiac sufferers carry the DQ2 marker, and 8% to 10% carry the DQ8 marker (Kimball Genetics, n.d.). It is important to be tested to know if any children or other family members of celiac sufferers carry the marker. These could be families at risk; if symptoms appear, they can be tested efficiently. If family members carry the marker and are asymptomatic, they can be monitored effectively (Kimball Genetics, n.d.).The patient and her parents were DNA tested. The mother was negative for DQ2 and DQ8 markers, and her gliadin screens were all negative. She doesn't have CD, can't get it, and can't pass it on. The father tested positive for the DQ2 marker and negative for the DQ8 marker. His serology results were all negative. Both parents are asymptomatic, but the father is pre-disposed and may develop CD in his lifetime. The patient is, of course, DQ2 positive and DQ8 negative. The patient in this case study just celebrated her 1-year anniversary of a gluten free, healthy life style, and she continues to study the subject in good health. But one has to ask: was any permanent damage done?Legally SpeakingAccording to information available at (n.d.), one of the world's leading providers of online medical health information, celiac disease is one of the most difficult diseases to diagnose. Does that preclude physicians from being responsible for misdiagnosis? In order to litigate a misdiagnosis case, a plaintiff must prove fault in medical malpractice. To prove fault in medical malpractice, four demands must be met:1.Duty - Was there a duty for the physicians to care forthis patient?2.Breach - Was there a breach of that duty? 3.Causation - Was the breach of the duty of care the legaland proximate cause of the harm to the patient? 4.Damages - Were there damages to the patient due to thephysician's breach?A duty was formed when the patient first presented to the pediatrician at age 9. There was a duty by the physician to diagnose the disease process, given the symptoms that were presented. There was certainly an established duty between the patient and her four other physicians. In reviewing the medical records, however, it is clear that there was little, if any communication, between the physicians. If phone calls were made, they weren't recorded in the medical records.Establishing breach of duty or medical professional negligence would require proof that the physicians' conduct fell below the standard of medical care. This, of course, would require the testimony of expert witnesses, establishing the applicable standard of care and the fact that the defendants failed to meet that standard. It must be proven that the health care provider failed to do what a reasonably prudent physician possessing the same or similar knowledge and skills would do in the same or similar circumstances. A biopsy of the villi in the small intestine would confirm damage. The fact that there is a pronounced possibility of developing an intestinal lymphoma or other diseases associated with untreated CD would also corroborate damage.In addition, there are the financial and emotional damages to consider. The damages were, in this case, directly related to the inability of the five physicians to diagnose CD. There was no reasonable way, however, for our patient to know or learn of CD without being diagnosed. Expert witness testimony would support the breach in duty when the standard of care was articulated.In 1980, the Massachusetts Supreme Court upheld the decision that the cause of action in medical malpractice accrues when the plaintiff learns of the harm as a result of misdiagnosis (Franklin vs Albert, Mass, 1980). Physicians are accountable for their interpretations of screening and diagnostic tests. This case underscores the critical importance of communication between health care providers. It also says that patients have 3 years from the discovery of the harm until they need to file a claim. The patient in the case study is considering litigation.

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Veronica Castellana Veronica Castellana

RN MARKET News features Legal Nurse Consulting related articles written by Veronica Castellana, Ryan Sanchez, and other guest writers. Veronica is the LNC STAT course creator and is a currently practicing Advanced Legal Nurse Consultant. Her training tools and techniques have resulted in some of the most succesful Legal Nurse Consultants in the world. She is now the leader in Legal Nurse success. Ryan is the Director of Marketing for RN MARKET and the LNC STAT course. His valuable expertise helps nurses to realize their true potential and value in the field of Legal Nurse Consulting.