This disorder can also cause metabolic syndrome. Most with the disorder also have a prominent umbilicus or umbilical hernia. Commonly, patients will also have acromegaly with enlargement of the hands, feet, and jaw. After puberty, additional symptoms can develop. In women, clitoromegaly and polycystic ovary syndrome can develop. This impairs fertility for women, and only a few documented cases of successful pregnancies in women with CGL exist. However, the fertility of men with the disorder is unaffected. Type 1 vs Type 2 Differences
There are differences in how Type 1 vs Type 2 patients are affected by the disease. In type 1 patients, they still have mechanical adipose tissue, but type 2 patients do not have any adipose tissue, including mechanical. In type 2 patients, there is a greater likelihood of psychomotor retardation and intellectual impairment. Genetics
Mechanism
Type 1
In individuals with Type 1 CGL, the disorder is caused by a mutation at the AGPAT2 gene encoding 1-acylglycerol-3-phosphate O-acyltransferase 2 and located at 9q34.3. This enzyme catalyzes the acylation of lysophosphatidic acid to form phosphatidic acid, which is important in the biosynthesis of fats. This enzyme is highly expressed in adipose tissue, so it can be concluded that when the enzyme is defective in CGL, lipids cannot be stored in the adipose tissue. Type 2
In those who have Type 2 CGL, a mutation in the BSCL2 gene encoding the Seipin protein and located at 11q13. This gene encodes a protein, Seipin, whose function is unknown.
Duration and aggressiveness of offloading (non-weight-bearing vs. weight-bearing, non-removable vs. removable device) should be guided by clinical assessment of healing of neuropathic arthropathy based on edema, erythema, and skin temperature changes. It can take six to nine months for the edema and erythema of the affected joint to recede. Outcome
Outcomes vary depending on the location of the disease, the degree of damage to the joint, and whether surgical repair was necessary. Average healing times vary from 55 to 97 days, depending on location. Up to one to two years may be required for complete healing. Further reading
Neuropathic osteoarthropathy by Monica Bhargava, M.D., University of Washington Department of Radiology
John R. Crockarell; Daugherty, Kay; Jones, Linda Winstead; Frederick M. Azar; Beaty, James H; James H. Calandruccio; Peter G. Carnesale; Kevin B. Cleveland; Andrew H. Crenshaw (2003). Campbells Operative Orthopedics (10th ed.). Saint Louis, MO: C.V. Mosby. ISBN 0-323-01248-5. Gupta R (November 1993). "A short history of neuropathic arthropathy". Clinical Orthopaedics and Related Research (296): 43–9. PMID 8222448. Sommer TC, Lee TH (November 2001). "Charcot foot: the diagnostic dilemma". American Family Physician. 64 (9): 1591–8. PMID 11730314. References


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