| disease | Acute Abdominal-hyperlipidemia Syndrome |
| alias | Burger-Grutz Syndrome, Hepatosplenomegaly with Lipid Deposition, Primary Familial Hyperlipidemia, Familial Hyperchylomicronemia, Familial Hyperlipoproteinemia Type I, Idiopathic Lipidosis, Hypercholesterolemia Yellow Sebaceous Cyst Disease |
Acute Abdomen-Hyperlipemia Syndrome, also known as familial hyperlipoproteinemia type I, familial hyperchylomicronemia, primary familial hyperlipidemia, hepatosplenomegalic lipidosis, hypercholesterolemic xanthomatosis, idiopathic lipidosis, hypercholesterolemic xanthomatosis, idiopathic lipidosis, and acute abdomen-hyperlipidemia syndrome. It was first reported by Burger and Grutz in 1932, hence also referred to as Burger-Grutz syndrome. It is a rare familial autosomal recessive genetic disorder.
bubble_chart Pathological Changes
Pathologically, cutaneous xanthomas are visible, with foam cells present in tissues rich in reticular cells (such as bone marrow, liver, and spleen), and inflammatory changes in the pancreas.
bubble_chart Clinical Manifestations
The disease often begins in early childhood. Both sexes can be affected. Symptoms can be triggered by fat intake, manifesting as upper abdominal discomfort, anorexia, and abdominal pain, usually without nausea or vomiting. Episodes of abdominal pain may be accompanied by fever, upper abdominal tenderness, pancreatitis, and peritoneal irritation signs, with hepatosplenomegaly, but the splenic area is usually not tender. About 30% of patients develop xanthomas in various parts of the body (including mucous membranes), which appear as yellow nodules on an erythematous base. After an episode, the xanthomas fade within weeks and may even disappear completely.
bubble_chart Auxiliary Examination
When the patient's plasma is left standing at 4°C, the upper layer appears white, indicating type I hyperlipoproteinemia. Lipoprotein analysis shows that very low-density lipoprotein (VLDL), low-density lipoprotein (LDL), and high-density lipoprotein (HDL) are normal or decreased. Cholesterol and triglycerides are elevated. During episodes, white blood cells are increased, while liver function and glucose tolerance tests are normal.
bubble_chart DiagnosisThe diagnosis can be made based on clinical manifestations such as upper abdominal pain and pancreatitis triggered by fat intake, signs like cutaneous xanthomas, and the presence of hyperlipidemia.
bubble_chart Treatment Measures
The main treatment involves a low-fat diet, with fat intake controlled to account for only 20-25% of total calories. Medium-chain triglyceride fats are used to replace regular fats. Acute pancreatitis should be treated accordingly when it occurs.
The prognosis of this disease appears to be less prone to complications such as atherosclerosis compared to other types of hyperlipidemia. The main risk lies in recurrent episodes of pancreatitis.
