Juvenile polyposis syndrome (JPS) is a rare
genetic disorder characterized by juvenile
polyps of the gastrointestinal tract. We present a new pathogenic mutation of the SMAD4 gene and illustrate the need for a multidisciplinary health care approach to facilitate the correct diagnosis. The patient, a 47-year-old Caucasian woman, was diagnosed with anaemia at the age of 12. During the following 30 years, she developed numerous gastrointestinal
polyps. The patient underwent several operations, and suffered chronic
abdominal pain,
malnutrition, and multiple
infections. Screening of the SMAD4 gene revealed a novel, disease-causing mutation. In 2012, the patient suffered
hypoalbuminemia and a large
polyp in the small bowel was found.
Gamma globulin was given but the patient responded with
fever and
influenza-like symptoms and refused more treatment. The patient underwent surgery in 2014 and made an uneventful recovery. At follow-up two months later
albumin was 38 g/L and
IgG was 6.9 g/L. Accurate diagnosis is essential for medical care. For patients with complex symptomatology, often with
rare diseases, this is best provided by multidisciplinary teams including representatives from clinical genetics. Patients with a SMAD4 mutation should be followed up both for JPS and haemorrhagic hereditary
telangiectasia and may develop
protein loosing enteropathy and immunodeficiency.