Retired bank teller turns her breast cancer journey and subsequent lymphedema diagnosis into a mission and organization to help others.

Reseachers have made an important discovery how mutations in a novel gene, ANGPT2, cause a lymphatic disease called primary lymphedema. Discovery is essential for the proper diagnosis of patients suffering from primary lymphedema.

The Human Molecular Genetics laboratory of the de Duve Institute (UCLouvain), headed by Professor Miikka Vikkula, recently identified mutations in a novel gene, ANGPT2, responsible for primary lymphedema. Together with the Wihuri Research Institute and it's director Professor Kari Alitalo at the University of Helsinki, Finland, the laboratories could show how these mutations cause the disease.

A 61-year-old woman presented to her family physician’s office with long-standing bilateral leg swelling. She voiced that her legs had become “heavy” and that the skin was “thick” and “burning.” She had started using a cane for gait instability.

An insidious onset of swelling in her left lower leg had started more than 25 years earlier without any obvious cause. A diuretic was initially prescribed; however, the swelling progressed. The patient was subsequently prescribed various diuretic dosing regimens, with minimal improvement. The diuretic was eventually stopped 3 years before the current presentation.

Over the years, the patient’s right lower leg had also begun to swell. She had undergone venous Doppler ultrasonography of the peripheral extremities 16 years earlier to rule out venous pathologies and was evaluated for liver disease and congestive heart failure. The results of the investigations were negative.

The patient’s medical history included overactive bladder and osteoarthritis. She had no history of coronary artery disease, venous thrombosis or liver disease. There was no family history of lymphedema. She was taking solifenacin 5 mg/d for overactive bladder and a calcium supplement.

On physical examination, the patient had bilateral nonpitting leg edema (Figure 1). The left lower leg was larger than the right, and the ankle anatomy was obscured on visual inspection. The skin of both lower legs was thick and rigid on palpation, with deep skin creases and areas of hyperkeratosis, and there was mycosis of the left first toenail. Stemmer sign (Box 1) was positive. There were no signs of venous thrombosis. Bilateral leg ultrasonography showed normal and competent peripheral veins.

LOS ANGELES, Calif. (Ivanhoe Newswire) — There are more than 3.5 million breast cancer survivors in the U.S. One in five of those will be diagnosed with lymphedema. It’s a painful swelling usually in one or both arms. There’s a new super-microsurgical procedure that may prevent it.

Veda Jackson, breast cancer survivor, picked up crocheting about a year ago. She got needles and yarn and got hooked! It took her mind off her diagnosis.

“I was diagnosed with stage three metastasis, breast cancer because it had spread to my lymph nodes,” Jackson told Ivanhoe.

Jackson was at risk of developing lymphedema after having a mastectomy and 13 lymph nodes removed.

WASHINGTON, D.C. —There’s no real cure for lymphedema, a painful accumulation of fluid in the arms and legs that afflicts more than 150 million people worldwide. Compression garments and anti-inflammatory drugs can ease the swelling, and electric pumps can push the fluid along, but neither provides a long-lasting solution. Now, researchers have found that a chemical similar to some glaucoma medicines alleviates symptoms of lymphedema in mice by targeting a specific protein, suggesting a new approach to treating the disease.

The lymphatic system extends throughout the body, with vessels that absorb protein-rich and white blood cell–filled fluid from tissues and transport it to lymph nodes. When the vessels can’t properly drain this fluid, it builds up in the tissue, causing lymphedema. Surgeries or cancer treatments such as radiation can bring on the condition, which can lead to a thickening and stiffening of the skin, fat buildup, and sometimes, cancer.