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I became a rare disease expert last year

Prior to May 2017, I had never heard of Retroperitoneal fibrosis (RPF) or Ormond's disease. Now, I am very well versed on the topic. My mom was diagnosed with RPF (also known as Ormond's disease) Memorial Day weekend 2017. She was a seemingly healthy 61 year old who developed the condition, and it almost took her life.


In the 13 months that followed (May 2017-June 2018), my mom had 8 urethral stent replacement procedures, a high-risk surgery, wore diapers for a few months, and endured unbearable pain and discomfort.


Thanks to the brilliant doctors at Mayo Clinic Rochester, she made a full recovery and we couldn't be happier! Today, she only has one fully functioning kidney, but she can live a normal life by taking proper care of herself.


Read her full story here.

ABOUT THE DISEASE


Retroperitoneal fibrosis (RPF) is a rare condition that’s also known as Ormond’s disease. It occurs when excess fibrous tissue develops in the space behind your stomach and intestine called the retroperitoneal area. Fibrosis is the growth of excess connective tissue, which causes a mass to form. This often causes compression and blockage of the ureters, which are the tubes that carry urine from your kidneys to your bladder.


Tissue masses can block one or both of your ureters. When urine backs up in the ureters, harmful materials can build up in your blood and kidney damage can result. The disease can cause kidney failure if it isn’t treated.


The condition typically starts with inflammation and fibrosis of the abdominal aorta. The abdominal aorta is the large artery that brings blood from your heart to the areas below your kidneys. As the disease progresses, it affects the arteries that carry blood to your legs and kidneys. Pain, leg swelling, and a reduction in kidney function can occur.


Symptoms of Retroperitoneal Fibrosis



This disorder results in decreased blood flow from the aorta to the lower part of your body. Initially, your body reacts to the reduced blood flow. Symptoms that occur in the early stages of this condition include:

  • dull pain in the abdomen or back that may be hard to pinpoint

  • pain on one side between your upper abdomen and back

  • leg pain

  • discoloration in one or both legs

  • swelling of one leg

  • intense abdominal pain with bleeding or hemorrhaging

Other symptoms may arise as the disease progresses, but certain symptoms can occur at any stage. They include:

  • severe abdominal or back pain

  • appetite loss

  • weight loss

  • fever

  • nausea or vomiting

  • an inability to urinate

  • reduced urine production

  • impaired limb movement

  • an inability to think clearly

  • a low level of red blood cells, which is called anemia

  • kidney failure

You should see your doctor if you have reduced urine output with abdominal or lower back pain. These can be symptoms of kidney damage.


Causes and Risk Factors of Retroperitoneal Fibrosis


RPF can be classified idiopathic, meaning that the cause is not known. According to the National Organization for Rare Diseases, the exact cause of this condition is unknown in about two-thirds of cases.


Age and gender are the greatest risk factors for the disease. According to the National Center for Biotechnology Information, it occurs most often between the ages of 40 and 60. However, it can develop at any age. The condition occurs twice as often in men as in women.

According to Johns Hopkins University, the disorder is associated with a specific condition in 10 to 25% of cases. These can include:

  • tuberculosis

  • actinomycosis, which is a bacterial infection

  • histoplasmosis, which is a fungal infection

  • recent trauma of the abdomen or pelvis

  • abdominal or pelvic tumors

The disorder can also be associated with:

  • recent surgery on the abdomen or pelvis

  • the use of cancer treatments involving external beam radiation

  • certain medications to treat migraines and high blood pressure

Diagnoses for Retroperitoneal Fibrosis


The first step in establishing a diagnosis is to obtain an x-ray. This may be in the form of a CAT scan or MRI. If inflammation is seen surrounding the Aorta or your kidney then you will need a biopsy of this area to accurately diagnose the x-ray findings as retroperitoneal fibrosis. Your doctor will also obtain a blood test to check your kidney function and look for the presence of anemia (low blood count), and for markers of inflammation in the blood.


Treatment for Retroperitoneal Fibrosis


Treatment varies depending on the severity and location of the fibrosis. If you’re diagnosed in the early stages of the condition, you may be prescribed anti-inflammatory medications, corticosteroids, or immunosuppressants.


If you’re diagnosed after fibrosis has blocked one or both of your ureters, your doctor will need to clear the obstruction. This is done by draining the urine with a stent, or drainage tube, inserted through your back and into your kidney. A stent may also be run from your bladder through the ureter into the kidney.

In some cases, surgery may be required. It may be used to:

  • free the affected ureter from the fibrosis

  • wrap the affected ureter in fat tissue from the intestines to protect it from fibrosis regrowth

  • reposition the affected ureter away from the inflammation to prevent the blockage from happening again

The goals of treatment are to remove the blockage, repair the affected ureter, and prevent it from happening again. For many people, treatment requires both medication and internal intervention.


Outlook for Retroperitoneal Fibrosis


If the condition is diagnosed and treated at an early stage, the long-term outlook for patients can be very good. When kidney damage is minimal and surgery is successful, there’s a 90 percent chance of long-term success.


However, in cases where the kidneys are severely affected, damage can be permanent, leading to the need for a kidney transplant.


Prevention of Retroperitoneal Fibrosis


Since the majority of cases cannot be linked to any specific cause, prevention may not be possible.

However, the condition is associated with the use of some medications to treat high blood pressure and medications to treat migraines called ergotamines. Ask your doctor about the possible side effects of these types of drugs and whether alternatives are available.


Sources

Retroperitoneal Fibrosis: Symptoms, Risks, and Treatment”. Healthline. Retrieved 2018-04-17.

Crow, Shirley. “Retroperitoneal Fibrosis“. Retrieved 2018-04-17.

Retroperitoneal fibrosis.” Wikipedia. Retrieved 2018-04-17.

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