Case History: 37 years old female, presented to Emergency department with worsening SOB over last 24 hours. On systemic enquiry, patient complained of epigastric pain after eating and admitted to un-intentional 22 Kg weight loss in last four months. She clinically appeared dehydrated, with mild epigastric tenderness and no other abnormal signs. She denied any alcohol ingestion or illicit drug use. She had treated Vitamin B12 deficiency and idiopathic macrocytosis. Initial investigations revealed raised anion gap metabolic acidosis with PH 7.1, Serum ketones 7.0, Bicarbonate 4.8, PCO2 2.2, BE −23.4, Lactate 2.1, Blood glucose 4.6, CRP 222 and amylase 175. Urine pregnancy test was negative. She had normal thyroid function test, cortisol and a CXR.
Patient was managed as euglycaemic diabetic ketoacidosis with variable rate intravenous insulin infusion (VRIII) alongside dextrose infusion, which led to resolution of metabolic acidosis. HbA1c 33 mmol/mol, Anti-GAD, Anti-ICA and Anti TTG antibodies were negative and subsequent duodenal biopsy was normal.
Patient was discharged on 4 units of levemir once daily, only to be discontinued few days later due to repeated hypoglycaemia.
Patient had readmission couple of months later with chest pain and imaging studies revealed, small/trace bilateral pleural effusion and small volume ascites. The radiological features were suggestive of chronic pancreatitis but not confirmatory.
On detailed exploration of family history, it was found that her sister is on Creon and not on insulin. Her 25 years old brother was admitted with pancreatitis and DKA, and his HbA1c was elevated at 103 mmom/mol. Her grandmother and great grandfather had diabetes.
Conslusion: In summary, three siblings with features of pancreatitis, one presented as euglycaemic diabetic ketoacidosis, second as DKA and third having exocrine pancreatic insufficiency. This raises the possibility of Familial Pancreatitis with clinical features in varying stages of disease.