Case 2: Making a diagnosis: Lest we forget the family

An 11-year-old girl was referred to the paediatric gastroenterology service with symptoms of hoarse voice, central chest discomfort with a frequent acidic taste in the mouth, and mild epigastric pain. An assessment by an otolaryngologist revealed congestion and small nodules on her vocal cords. A diagnosis of gastroesophageal reflux disease (GERD) had been entertained. The patient was otherwise well without any vomiting, dysphagia, alteration in stool pattern or weight loss. Her history was unremarkable, with normal growth and development. During history taking in the outpatient clinic, it was inquired as to whether anyone else in the family had similar problems. The mother reported that her husband had severe, chronic GERD requiring a fundoplication.

The physical examination of the patient was normal. She was prescribed ranitidine and a follow-up was arranged.

When the patient was seen two months later, there was little improvement in her symptoms. A trial of omeprazole was initiated. A lack of response led to an increase in the dose of the medication, but that was also of no avail.

An upper gastrointestinal endoscopy was performed to look for reflux esophagitis or eosinophilic esophagitis. On endoscopy, the esophagus and stomach appeared normal. Inspection of the duodenum revealed the unexpected diagnosis.

CASE 2 DIAGNOSIS: CELIAC DISEASE

Sir William Osler once said, “If you listen carefully to the patient they will tell you the diagnosis”. Despite the great technological advances in medicine over the past century, this statement holds true. A careful and thorough history from the patient remains the cornerstone of making a diagnosis. Outpatient clinics in a teaching hospital are busy and attended by many trainees including medical students and residents. They often have the first contact with the patient and family, and it is easy in a hectic clinic to forego getting details of a family history. Because the patient’s father in this case had the same problem as the patient’s presumptive diagnosis (ie, GERD), other gastrointestinal diseases in the family were not specifically inquired about.

The duodenum is routinely examined in all patients undergoing an upper gastrointestinal endoscopy. Surprisingly, the patient had mild ‘scalloping’ of the duodenal mucosal folds – an appearance that can be seen in celiac disease. Biopsies were taken and sent for histological examination.

After the procedure, I discussed the endoscopic findings with the patient’s mother in the postprocedure recovery room.

“The young lady’s food-pipe [esophagus] seems to be fine but I suspect that she may have an allergy to wheat products”, I informed. (The term celiac disease was deliberately avoided at that stage because I presumed that the mother would have no idea what it meant.)

“You mean she could be a celiac”, she inquired, her eyes wide open.

“What do you know about celiac?” I curiously asked.

“Everyone in our family has celiac! My mom, brother and two uncles all have celiac”, she informed.

“Why didn’t you tell us about this celiac thing before?” I inquired.

“Nobody asked me about celiac”, was her reply.

I was speechless.

The patient’s small intestinal histology confirmed celiac disease. Serum tissue transglutaminase antibody was also positive. She was started on a gluten-free diet and her symptoms resolved promptly. She remains asymptomatic on a strict gluten-free diet and has not required any other therapy.

This case teaches a valuable lesson on the importance of getting a thorough family history. If the strong family history of celiac disease were known, the patient would have undergone serological screening and an early diagnosis would have been made. It is known that some individuals with celiac disease can have GERD-like symptoms.

Since this event at our gastroenterology clinic, we specifically ask about family history by naming the diseases. In the gastroenterology domain, this includes conditions such as celiac disease, inflammatory bowel disease and peptic ulcer. The former two conditions have a significant hereditary and genetic component, with the latter being most commonly caused by infection with Helicobacter pylori, which can affect multiple members of the household.

The importance of a thorough family history in clinical practice cannot be emphasized enough. Any physician in a busy practice can easily overlook the details of the family history. It is also important for medical students and paediatric trainees to develop the necessary skills involved in taking a family history. To help obtain a comprehensive family history from patients, the following steps are recommended:

1. Inquire about the health of both first- and second-degree relatives.

2. Draw a brief pedigree to ensure inclusion of all relatives.

3. Asking about consanguinity is important, especially in autosomal recessive disorders. This can be difficult and should be done with sensitivity. Are the parents from the same community? Do the parents share the same surname? In individuals from small communities, positive answers to these questions may give a clue to a consanguineous relationship.

4. Rather than a generic question about family history, inquire about diseases by name. It is amazing how commonly one finds a family member affected by a similar disorder.

5. Even if the patient’s presenting problem does not overtly seem to be genetic in nature, probe the family history as you may discover other illnesses that can have an impact on the future health of the child. A positive family history is an important risk factor for many common and serious disorders including essential hypertension, early-onset ischemic heart disease and type 2 diabetes. Such information would be of great help in the overweight six-year-old child that you are seeing for constipation.

In summary, getting a good family history is important. As a wise person once said, “Whether you keep or lose your hair depends on how carefully you chose your parents”.

CLINICAL PEARLS

• A thorough family history should be obtained for all children with acute or chronic illnesses, even if the disease under consideration does not seem to be familial or genetic in nature.

• A brief pedigree should be drawn as part of data gathering so as to not miss the health details of both first- and second-degree relatives.

• Depending on the clinical scenario, diseases of relevance should be inquired specifically by name to make it easy for the parents to recall whether they are present in the family.