The digestive defects results in diarrhoea and steatorrhoea with a tendency to fat soluble vitamin deficiency.
Diagnosis requires specialist gastroenterological and haematological investigation.
Recurrent infection, which may be life threatening, is due to both minor immunodeficiency and neutrophil defects. In severe cases more serious haematological disorder may occur with aplastic anaemia and myelodysplasia. Rarely, hepatic fibrosis and ichthyotic skin lesions may occur. Treatment is by pancreatic enzyme replacement and multi-vitamin supplements with prophylactic antibiotics to control infection. Haematological and immunological defects may require appropriate specific treatment.