Patients who present with increased volume and frequency of fatty stools need testing for pancreatic function to rule out Shwachman-Diamond syndrome (SDS).
SDS is an inherited (autosomal recessive) condition with multisystemic abnormalities including pancreatic insufficiency (problems with digestion of fats in the diet resulting in large volume fatty stools), neutropenia, and short stature. At the time of diagnosis the features of SDS are extremely variable. The vast majority of patients are diagnosed in infancy, with symptoms of fatty stools and poor growth, with or without haematological abnormalities (including neutropenia), but other less common features can also be present at diagnosis. These include (extreme) short stature, skeletal abnormalities, and marked liver enlargement. SDS must be considered even if clinical symptoms of pancreatic insufficiency are absent because a significant percentage of patients develop pancreatic insufficiency later, or indeed their symptoms may have resolved prior to the recognition of neutropenia.
If neutropenia becomes severe, these patients also suffer from recurrent bacterial infections and treatment with G-CSF is helpful. Most G-CSF treated patients respond with an increase in blood neutrophils and reduction of infectious episodes. In SDS other blood cell numbers may also be decreased to a varying degree (potentially leading to anaemia and/or thrombocytopenia).
As already mentioned for patients with congenital neutropenia or Kostmann syndrome, patients with SDS have also an increased risk in developing leukaemia and therefore it is strongly recommended to have bone marrow examination with cytogenetic testing on a yearly basis.