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Was JFK the Victim of an Undiagnosed Disease Common to the Irish?

HNN: The JFK Medical Files


New revelations that have appeared in the New York Times and the Atlantic Monthly, about John F. Kennedy's health have raised questions about his physical condition during his presidency. Robert Dallek, in the December Atlantic Monthly, described in "The Medical Ordeals of JFK" long standing medical problems that started in childhood. In Kennedy's adolescence, gastrointestinal symptoms, weight and growth problems as well as fatigue were described. Later in life, he suffered from abdominal pain, diarrhea, weight loss, osteoporosis, migraine and Addison's disease. Chronic back problems, due to osteoporosis resulted in several operations and required medications for chronic pain. He was extensively evaluated in major medical centers including the Mayo Clinic and hospitals in Boston, New Haven and New York. Among the multiple diagnoses were ulcers, colitis, spastic colitis, irritable bowel syndrome, and food allergies. His medications included corticosteroids, antispasmotics, Metamucil and Lomotil. However it is not clear that his physicians obtained a definitive diagnosis.

Review of this medical history raises the possibility that JFK had celiac disease. Celiac disease is caused by ingestion of gluten, which is the main protein component of wheat and related cereals, rye and barley. The small intestine develops villous atrophy that results in difficulties in the absorption of nutrients. Diarrhea and abdominal pain are common symptoms. Elimination of gluten from the diet results in resolution of the inflammatory condition in the intestine and the associated symptoms and prevention of the complications of the disease. A life-long gluten free diet is then required. People with celiac disease, providing they adhere to the diet have normal longevity.

Celiac disease can present at any age. In infancy and childhood it may cause chronic diarrhea, abdominal pain, and growth, behavioral and development problems. In older individuals the presentation of celiac disease is frequently due to the development of complications of the disease. These include anemia, osteoporosis, skin rashes or neurologic problems. The neurologic problems include neuropathy, epilepsy, ataxia (balance disorders) and migraine. While the disease is more common in females, men are affected as well. Osteoporosis is common in patients with celiac disease, men often are more severely affected than women. Gastrointestinal symptoms in celiac disease persist for many years prior to diagnosis and are often attributed to an irritable bowel syndrome or spastic colitis. Patients typically see many physicians prior to the diagnosis of celiac disease.

Autoimmune disorders occur more frequently in patients with celiac disease than the general population by a factor of ten. Frequently the autoimmune disorder assumes greater clinical significance than the celiac disease and as a result is diagnosed first. The associated autoimmune disorders include thyroid dysfunction, psoriasis, dermatitis herpetiformis (an intensely itchy skin rash), Sjogren's syndrome, and Addison's disease. Relatives of patients with celiac disease have a greater risk, not only of celiac disease, but also of other autoimmune diseases.

THE IRISH CONNECTION

Celiac disease was formerly considered a rare disease of childhood. It is now recognized as being very common in those of European descent, one of the most common genetically determined conditions physicians will encounter. Recent studies have demonstrated the country with the greatest prevalence to be Ireland. In Belfast one in one hundred and twenty two have the illness.

The prominent familial association of the disease indicated by the occurrence in one of ten first degree relatives and in 80 percent of identical twins points to a genetic component of the disease. However the actual genes responsible for the disease have not been discovered though there are many groups working on the problem. It is known that there is a strong association with specific HLA genes that are required for the disease to occur, but are themselves not sufficient for the disease to be manifested.

Kennedy's Irish heritage, long duration of gastrointestinal complaints (since childhood), diagnosis of irritable bowel syndrome and migraine, presence of severe osteoporosis, and the development of Addison's disease all lead to a presumptive diagnosis of celiac disease. Kennedy was given steroids for his problems. Steroid use is associated with the development of osteoporosis and Addison's disease. However steroids were initially used in clinical practice in the 1930s and 1940s for many indications, not considered appropriate now. In the case of Kennedy, if he did in fact have celiac disease, the steroids would have suppressed the inflammation in the intestine and reduced his symptoms, making diagnosis of celiac disease less likely to be established. The occurrence of Addison's disease in his sister, however, argues for a familial cause of his Addison's disease, rather than an iatrogenic one.

Could celiac disease have been diagnosed in Kennedy during his lifetime? Possibly. The disease was first recognized in 1887 as well as its treatment with an elimination diet. It was recognized to occur at all ages. However, it was not until the 1950s that the shortage of bread during the Second World War and its subsequent reintroduction in Holland prompted recognition of the role of wheat as a cause of this malabsorption syndrome. While it was in the 1970s that physicians became aware of the more subtle presentations of the disease. The diagnosis of celiac disease initially requires consideration that it may be present in an individual patient, even now many physicians do not consider the diagnosis.

It would however be possible to diagnose celiac disease in JFK now, if biopsies taken during his life, or autopsy material of the small intestine had been archived and was now made available. Frozen blood samples could also provide diagnostic material for there are serologic tests now available that are sensitive and specific for the condition..

A diagnosis of celiac disease, if it had been made could have been treated by diet alone. This would have prevented all the manifestations of the disease and its complications. Because of the strong genetic component of celiac disease, Kennedy's family may well be interested in obtaining the diagnosis as well.