Milroy disease
Encyclopedia
Milroy's disease is a familial disease characterised by lymphedema
, commonly in the legs, caused by congenital abnormalities in the lymphatic system
. Disruption of the normal drainage of lymph leads to fluid accumulation and hypertrophy
of soft tissues. It is also known as Milroy disease, Nonne-Milroy-Meige syndrome and hereditary lymphedema.
It was named by Sir William Osler for William Milroy
, an American physician, who described a case in 1892, though it was first described by Rudolf Virchow
in 1863.
, which is progressive and can affect both legs. Impaired intestinal
lymphatics can cause steatorrhea
due to impaired transport of chylomicrons. Defective lymphocyte
circulation can cause lymphopenia and impaired cell-mediated immunity
.
This disease is more common in women and an association with the gene FLT4
has been described.
Lymphedema
Lymphedema , also known as lymphatic obstruction, is a condition of localized fluid retention and tissue swelling caused by a compromised lymphatic system....
, commonly in the legs, caused by congenital abnormalities in the lymphatic system
Lymphatic system
The lymphoid system is the part of the immune system comprising a network of conduits called lymphatic vessels that carry a clear fluid called lymph unidirectionally toward the heart. Lymphoid tissue is found in many organs, particularly the lymph nodes, and in the lymphoid follicles associated...
. Disruption of the normal drainage of lymph leads to fluid accumulation and hypertrophy
Hypertrophy
Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells. It should be distinguished from hyperplasia, in which the cells remain approximately the same size but increase in number...
of soft tissues. It is also known as Milroy disease, Nonne-Milroy-Meige syndrome and hereditary lymphedema.
It was named by Sir William Osler for William Milroy
William Milroy
William Milroy is a professional badminton player. A resident of Edmonton, he has been a Men’s Doubles Winner in the Canadian National Badminton Championships in each year since 2004.-References:...
, an American physician, who described a case in 1892, though it was first described by Rudolf Virchow
Rudolf Virchow
Rudolph Carl Virchow was a German doctor, anthropologist, pathologist, prehistorian, biologist and politician, known for his advancement of public health...
in 1863.
Description
The defect in Milroy's disease is present from birth and symptoms are usually first experienced in childhood. The most common problem is one-sided leg swelling, unilateral edemaEdema
Edema or oedema ; both words from the Greek , oídēma "swelling"), formerly known as dropsy or hydropsy, is an abnormal accumulation of fluid beneath the skin or in one or more cavities of the body that produces swelling...
, which is progressive and can affect both legs. Impaired intestinal
Intestine
In human anatomy, the intestine is the segment of the alimentary canal extending from the pyloric sphincter of the stomach to the anus and, in humans and other mammals, consists of two segments, the small intestine and the large intestine...
lymphatics can cause steatorrhea
Steatorrhea
Steatorrhea is the presence of excess fat in feces. Stools may also float due to excess lipid, have an oily appearance and be especially foul-smelling. An oily anal leakage or some level of fecal incontinence may occur. There is increased fat excretion, which can be measured by determining the...
due to impaired transport of chylomicrons. Defective lymphocyte
Lymphocyte
A lymphocyte is a type of white blood cell in the vertebrate immune system.Under the microscope, lymphocytes can be divided into large lymphocytes and small lymphocytes. Large granular lymphocytes include natural killer cells...
circulation can cause lymphopenia and impaired cell-mediated immunity
Cell-mediated immunity
Cell-mediated immunity is an immune response that does not involve antibodies but rather involves the activation of macrophages, natural killer cells , antigen-specific cytotoxic T-lymphocytes, and the release of various cytokines in response to an antigen...
.
This disease is more common in women and an association with the gene FLT4
FLT4
Fms-related tyrosine kinase 4, also known as FLT4, is a protein which in humans is encoded by the FLT4 gene.This gene encodes a tyrosine kinase receptor for vascular endothelial growth factors C and D. The protein is thought to be involved in lymphangiogenesis and maintenance of the lymphatic...
has been described.