1 / 6

Milroy Disease

Milroy Disease. Fannie Mills, born 1859 with Milroy Disease. Symptoms and Diagnosis. Intestinal Lymphangiestasia. Peripheral Lymphedema. Dilation of lymph vessels stemming from blockage of lymoh flow, leading to fluid buildup in intestinal tissues Protein-Losing Enteropathy

fatima-ortega
Download Presentation

Milroy Disease

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Milroy Disease Fannie Mills, born 1859 with Milroy Disease

  2. Symptoms and Diagnosis Intestinal Lymphangiestasia Peripheral Lymphedema • Dilation of lymph vessels stemming from blockage of lymoh flow, leading to fluid buildup in intestinal tissues • Protein-Losing Enteropathy • Stressed Lymph system releases essential proteins which cannot be efficiently reabsorbed • Steatorrhea (excess fat in feces) • Loss of essential fats • Fluid retention by lymphatic system leads to edema of the lower extremities, usually manifesting itself in childhood and continuing into adulthood. • Diagnosis generally stems from observation of this symptom in the patient

  3. Treatment and Mortality • A diet high in protein and fats can account for some of the losses sustained by the intestine • Exercise, massage, and compression of the limbs affected by edema can help draw fluid off and maintain mobility • Proper skin hygiene can help stave off infection • The disease is not progressive; patients with the condition generally stabilize within several years and can lead fairly normal lives

  4. Inheritance • Disease appears to be autosomal dominant • It is most likely due to multiple genes and some environmental factors • Patients will show mutation in FLT4, although not all patients with the mutation develop the disease • The primary gene responsible is FLT4 • Located at 5q35.3, mRNA transcript is 5833 bp • FLT4 is flanked by GABRA1 and DRD1 • FLT4 codes for vascular endothelial growth factor receptor-3 (VEGFR3)

  5. Gene Function • VEGFR3 functions as part of a tyrosine kinase pathway in the developing lymph system • Proper function stimulates tyrosine phosphorylation, regulation of cell proliferation • Mutation inactivates the kinase, which stops pathway activity downstream of FLT4 • Expressed in developing venous and presumptive lymphatic endothelia of mice • 1363 amino acids long, shares a catalytic domain with a broad family of kinases involved in the phosphorylation of serine, tyrosine, or threonine residues in proteins

  6. Risk Factors and Frequency • Disease appears in both sexes, 70-80% of affected persons are female • The disease arises from error in development, has early onset • It does not appear to affect any race in particular • Accounts for 2% of all hereditary lymphedemas, and is extremely rare in the general populace

More Related