A 30 y.o. woman comes in with R flank pain.
Do you notice anything unusual on the CT?
Our patient had an angiomyolipoma which bled. An angiomyolipomas is a tumor of perivascular cells. It is considered a benign tumor similar to a hamartoma (a tumor consisting of cells in their correct location but forming a disorganized mass). These tumors are typically found in the kidney but can also be found in the liver, ovary, fallopian tube, and palate.
The discovery of an angiomyolipoma should trigger an evaluation for tuberous sclerosis, von Hippel Lindau disease and lymphangioleiomyomatosis. All are overgrowth syndromes of normal cells.
Tuberous sclerosis- affects 1 in 6,000 newborns. It can appear in adult life and often presents as seizures for tubers developing in the brain.
Often adenoma sebaceum , nodules across the midface are the first finding
Lymphangioleeiomyomatosis (LAM)- is a cystic lung disease where muscle cell proliferation leads to pulmonary fibrosis.
cystic lung disease in LAM
Von Hippel-Lindau was discovered in 1911 by a German ophthalmologist. He found retinal hemangiomas in patients later found to have angiomyolipomas of the kidneys. It can also be associated with pheochromocytomas. The disease is autosomal dominant ant now known to be related to abnormalities on chromosome 3p.
A CT or MRI of the brain is needed to screen for tubers and a high resolution CT of the chest is done to rule out cystic lung disease. A dermatologic exam may reveal Shagreen patches or ash leaf spots.
Shagreen patches shown on the right are raised lesions described as “orange peel” in character.
The treatment of these tumors is everolimus which is an immune suppressant. The genes associated with tuberous sclerosis are TSC1 and TSC2 which are lost or inactivated causing mTORC1 to cause unopposed growth of cells. Everolimus bind to a protein which directly inhibits mTORC1 reducing tumor growth. It is also used in kidney transplants and heart transplants where is reduces allograft vasculopathy.
Our patient underwent embolization of her bleeding kidney after transfusion and has been stable.
Eisen H, Tuzcu E, Dorent R, et al. everolimus for the prevention of allograft rejection and vasculopathy in cardia-transplant recipients. 2004 NEJM 349(9):847-58.
Formica R, Lorber K, Friedman A, et al. The evolving experience using everolimus in clinical transplantation. 2004. Transplantation Proceedings. 36(2Suppl): 495S-499S.
Hartmut P, Neumann, Zbar B. Renal cysts, renal cancer and von Hippel-Lindau disease. Kidney International .1991 51(1):16-26.
Neumann H, Wiestler O. Clustering of features of von Hippel-Lindau syndrome: evidence of a complex genetic locus. The Lancet. 1991: 8749:1052-1054.