Genetics and Biochemistry Ms.Laraque
12/06/14
Dercum’s Syndrome
Dercum’s Syndrome also known as Adiposis Dolorosa was first identified by American neurologist Francis Xavier Dercum, in 1892 at the Jefferson Medical College in Philadelphia. Dercum’s Syndrome is a rare progressive syndrome that is characterized by multiple fatty lipomas which apply pressure to the nerves resulting to weakness and pain. These lipomas are beneath the skin; they can form on any part of the body but, are mostly found on the torso, upper arm and upper legs. This condition usually occurs in post-menopausal and obese women of age 35-50, but in some cases it occurs in men and non-obese patients. It is almost never seen in children. This is a chronic disease with pain that comes and goes in some patients or stays constant in others. The cause of Dercum’s Syndrome remains unknown. In some studies it has been suggested that high doses of corticosteroids, disruption in the endocrine system, and improper breakdown of fats may be potential causes but, this is not certain. In other research, autoimmune disorder; this is when the body’s immune system attacks normal healthy body tissue instead of defending the body against diseases. Majority of reported cases of Dercum’s Syndrome have rarely happened in more than one person in a family, but a few cases with autosomal dominant transmission have been described. It has been said that the cause of this disorder may be genetically involved. Dercum’s Syndrome has been classified into three types. Type I, the juxta-articular type, which consists of painful folds of fat on the inside of the knees and/or on the hips, in occasional cases it’s only apparent in upper-arm fat. Type II, the diffuse, is where widespread pain from fatty tissue is found, apart from that of type I, it is often in the dorsal upper-arm fat, the axillary and gluteal fat, the stomach wall, dorsal fat folds, and on the soles of the feet. Type III, the nodular type, comes with intense pain in and around multiple lipomas, sometimes in the absence of general obesity. The lipomas are approximately 0.5-4 cm, soft, and attached to the surrounding tissue.
Symptoms of Dercum’s Syndrome include slow formation of multiple painful lipomas. Pain associated with these lipomas can vary. It increases with growth of fatty tissues and in connection with menstruation. It also becomes worse with movement or increase in body weight. Significant weight gain, weakness and fatigability, and mental disturbances which include emotional instability, depression, epilepsy, confusion, and dementia are also symptoms that contribute. Some individuals may also experience swelling in different areas of the body. The swelling occurs for no deceptive reason and somehow goes away without any type of treatment. According to the Human Phenotype Ontology, 90% of patients with Dercum’s Syndrome have Arthralgia which is joint pain and are obese. 50% of patients have had a meager amount of hair quantity as well. 7.5% of patients have also developed Arthritis, autoimmunity, and proneness to bruising. As previously stated, most cases of Dercum’s Syndrome have been sporadic, it has infrequently occurred in more than one family member, and in some cases has appeared to be inherited in a autosomal dominant manner. Autosomal dominant is a pattern of inheritance in which an affected individual has one copy of a modified gene and one normal gene on a pair of autosomal chromosomes, therefor there is a 50-50 chance that the gene will be passed on to the offspring. Studies have revealed that the A to G mutation at position A8344 of mitochondrial DNA cannot be detected. Likewise, HLA (human leukocyte antigen) typing, which has been done on a family of five affected by Dercum’s disease, has not shown any connection between typical antigens and the presence of the condition. No specific genes known to be associated with Dercum’s Syndrome have been identified.
