Davut Keskin1, Naci Ezirmik, Hakan Celik. 1. Department of Orthopaedics and Traumatology, Medical School of Atatürk University, Erzurum Turkey. keskind@atauni.edu.tr
Abstract
BACKGROUND: Familial multiple lipomatosis is an extremely rare disease. The disease usually does not affect the daily life of FML victims, but they may experience difficulty in performing everyday physical tasks if the lipomas are multiple and large. Inheritance is frequently by autosomal dominant transmission, although cases with recessive inheritance have also been reported. OBJECTIVES: To determine the pattern of inheritance of the disease in a family with 83 members spanning three generations. METHODS: A complete family analysis was performed and all surviving members of the family were examined. Laboratory investigations were conducted in those with FML, including serum lipid, cholesterol and glucose levels, white blood cell count, hemoglobin, erythrocyte sedimentation rate, and renal and hepatic function tests. RESULTS: There were no consanguineous relationships between spouses in the family. The disease was first seen on the neck of the (male) index patient. This patient had 4 sons, 8 daughters and 60 grandchildren. The disease was established in four of his daughters and two of his sons. One of the female grandchildren whose mother has the disease was also affected. The laboratory findings were normal for all patients. CONCLUSION: Our findings showed that a) the disease is transmitted by the autosomal dominant route of inheritance; and b) lipomas observed at an early age may be numerous and large, may diffuse, and sometimes have to be excised surgically.
BACKGROUND:Familial multiple lipomatosis is an extremely rare disease. The disease usually does not affect the daily life of FML victims, but they may experience difficulty in performing everyday physical tasks if the lipomas are multiple and large. Inheritance is frequently by autosomal dominant transmission, although cases with recessive inheritance have also been reported. OBJECTIVES: To determine the pattern of inheritance of the disease in a family with 83 members spanning three generations. METHODS: A complete family analysis was performed and all surviving members of the family were examined. Laboratory investigations were conducted in those with FML, including serum lipid, cholesterol and glucose levels, white blood cell count, hemoglobin, erythrocyte sedimentation rate, and renal and hepatic function tests. RESULTS: There were no consanguineous relationships between spouses in the family. The disease was first seen on the neck of the (male) index patient. This patient had 4 sons, 8 daughters and 60 grandchildren. The disease was established in four of his daughters and two of his sons. One of the female grandchildren whose mother has the disease was also affected. The laboratory findings were normal for all patients. CONCLUSION: Our findings showed that a) the disease is transmitted by the autosomal dominant route of inheritance; and b) lipomas observed at an early age may be numerous and large, may diffuse, and sometimes have to be excised surgically.