Disease Profile

Retroperitoneal fibrosis

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

46,215 - 5,135

Europe Estimated

Age of Onset

Adult

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ICD-10

N13.5

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Idiopathic retroperitoneal fibrosis; Ormond's disease; IgG4-related retroperitoneal fibrosis;

Categories

Digestive Diseases; Kidney and Urinary Diseases

Summary

Retroperitoneal fibrosis is a slowly progressive disorder in which the tubes that carry urine from the kidneys to the bladder (ureters) and other abdominal organs or vessels become blocked by a fibrous mass and inflammation in the back of the abdomen. The disorder may cause pain in the abdomen that worsens with time, pain or swelling of the legs, decreased urine output, and swelling of the scrotum in men.[1][2] Risk factors for retroperitoneal fibrosis include asbestos exposure, smoking, tumor, infection, trauma, radiotherapy, surgery, and use of certain drugs.[1][2][3][4]Treatment may include corticosteroids, tamoxifen, stents or surgery.[1]

Symptoms

Retroperitoneal fibrosis is characterized by inflammation and excessive scar tissue that develops in the back of the abdominal cavity. It can occur at any age, but appears most often between the ages of 40 and 60.[1][2] Men are twice as likely to develop the condition as women.[1]

Early symptoms of retroperitoneal fibrosis may include:[1][2]

  • Dull pain in the abdomen, back, or side that increases with time
  • Decreased circulation in the legs leading to pain, swelling, and discoloration
  • Impaired blood flow to the intestines leading to death (necrosis) of intestinal tissue, severe pain, and excessive bleeding (Hemorrhage)
  • Swelling of the scrotum in men

Late symptoms of retroperitoneal fibrosis may include:[1][2]

  • Decreased urine output
  • Total lack of urine (anuria)
  • Nausea, vomiting, weight loss, itching, anemia, and changes in thinking caused by kidney failure and the resulting build-up of toxic chemicals in the blood.

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Anorexia
0002039
Anti-thyroid peroxidase antibody positivity
0025379
Deep dermal perivascular inflammatory infiltrate
0031191
Elevated C-reactive protein level
0011227
Elevated erythrocyte sedimentation rate
High ESR
0003565
Elevated serum creatinine
Elevated creatinine
High blood creatinine level
Increased creatinine
Increased serum creatinine

[ more ]

0003259
Fatigue
Tired
Tiredness

[ more ]

0012378
Flank pain
0030157
Hydronephrosis
0000126
Increased blood urea nitrogen
0003138
Large vessel vasculitis
0005310
Low back pain
0003419
Normocytic anemia
0001897
Unilateral renal hypoplasia
Small kidney on one side
Underdeveloped kidney on one side

[ more ]

0012583
Weight loss
0001824
5%-29% of people have these symptoms
Acute kidney injury
0001919
Antineutrophil antibody positivity
0003453
Constipation
0002019
Fever
0001945
Hashimoto thyroiditis
0000872
Membranous nephropathy
0012578
Nausea and vomiting
0002017
Pedal edema
Fluid accumulation in lower limbs
Lower leg swelling

[ more ]

0010741
Psoriasiform dermatitis
0003765
Rheumatoid arthritis
0001370
Rheumatoid factor positive
0002923
Smooth muscle antibody positivity
0003262
Systemic lupus erythematosus
0002725
Ureteropelvic junction obstruction
0000074
1%-4% of people have these symptoms
Budd-Chiari syndrome
0002639
Dysuria
Painful or difficult urination
0100518
Hematuria
Blood in urine
0000790
Hydrocele testis
0000034
Impotence
Difficulty getting a full erection
Difficulty getting an erection

[ more ]

0000802
Nephrotic syndrome
0000100
Renal tubular epithelial necrosis
0008682
Renovascular hypertension
0100817
Retrograde ejaculation
0012877
Varicocele
0012871

Cause

The cause of retroperitoneal fibrosis is unknown in many cases (idiopathic).[1][2] Occasionally, it may occur with autoimmune disorders and some researchers suggest that the immune system may be involved.[2] Some cases occur in association with other factors, including:[1][2][3][4]

  • Asbestos exposure
  • Smoking
  • Neoplasms (tumor)
  • Infections
  • Trauma
  • Radiotherapy
  • Surgery
  • Use of certain drugs (including those that contain methysergide, a medication sometimes used to treat migraines)

Some cases of idiopathic retroperitoneal fibrosis (IgG4-related retroperitoneal fibrosis) are considered part of a group of conditions known as “Immunoglobulin G4-related disease (IgG4-RD)”.

Treatment

There is no consensus on the best treatment for retroperitoneal fibrosis. The approach may depend on the disease's stage.[1][3]

    Corticosteroids are tried first. Dosing will be prescribed on a case by case basis, but doses often vary between 30 and 60 mg per day. Corticosteroids are then tapered slowly. Some people with retroperitoneal fibrosis may continue on low dose maintenance therapy for up to 2 years.[5] If corticosteroid treatment doesn't work, a biopsy should be done to confirm the diagnosis.[1]

    Other medicines to suppress the immune system, such as mycophenolate mofetil, methotrexate, azathioprine, cyclophosphamide or tamoxifen can be prescribed alone or in combination with corticosteroids.[1]

    When medication does not work, surgery and stents (draining tubes) are considered. Stents (drainage tubes) placed in the ureter or in the renal pelvis may provide short-term relief of the symptoms until the condition is surgically treated.[3] Surgery aims to remove the mass and/or free the ureters.

    In cases of severe inflammation of the kidneys (severe hydronephrosis) the initial treatment is done with surgery or stents. However, many professionals currently recommend surgery as the first option for patients with obstructed ureters who are in good overall health, and not as a last resort treatment.[6][7] Some newer surgical techniques with fewer complications have shown better results, such as robotic laparoscopy[8] 

    Patients with advanced age or health conditions that prevent a surgery are treated only with medication.[9]

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn More

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • Genetics Home Reference contains information on Retroperitoneal fibrosis. This website is maintained by the National Library of Medicine.
        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Retroperitoneal fibrosis. Click on the link to view a sample search on this topic.

            References

            1. Sobol J. Retroperitoneal fibrosis. MedlinePlus. June 29, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/000463.htm.
            2. Retroperitoneal fibrosis. Genetics Home Reference (GHR). July 2013; https://ghr.nlm.nih.gov/condition/retroperitoneal-fibrosis.
            3. Vaglio A, Salvarani C, Buzio C. Retroperitoneal fibrosis. Lancet. 2006 Jan 21; 367(9506):241-51. https://www.ncbi.nlm.nih.gov/pubmed/?term=16427494.
            4. Goldoni M, Bonini S, Urban ML, Palmisano A, De Palma G, Galletti E, Coggiola M, Buzio C, Mutti A, Vaglio A. Asbestos and smoking as risk factors for idiopathic retroperitoneal fibrosis: a case-control study. Ann Intern Med. 2014 Aug 5; 161(3):181-8. https://www.ncbi.nlm.nih.gov/pubmed/25089862.
            5. Tzou M, Gazeley DJ, Mason PJ. Retroperitoneal fibrosis. Vasc Med. 2014 Oct; 19(5):407-14. https://www.ncbi.nlm.nih.gov/pubmed/?term=25161213.
            6. Fernando A, Pattison J, Horsfield C, Bultitude M, D'Cruz D & O'Brien T. A lot of questions and a few answers in retroperitoneal fibrosis. BJU Int. Janury 23, 2015; https://www.ncbi.nlm.nih.gov/pubmed/25614102.
            7. Biyani CS. Retroperitoneal Fibrosis. Medscape Reference. 2016; https://emedicine.medscape.com/article/458501-overview.
            8. Keehn AY, Mufarrij PW & Stifelman MD. Robotic ureterolysis for relief of ureteral obstruction from retroperitoneal fibrosis. Urology. June, 2011; 77(6):1370-4. https://www.ncbi.nlm.nih.gov/pubmed/21296397.
            9. Retroperitoneal fibrosis. MedlinePlus. 2013; https://www.nlm.nih.gov/medlineplus/ency/article/000463.htm.
            10. Ezimora A, Faulkner,ML, Adebiyi O, Ogungbemile A, Marianna SV & Nzerue C. Retroperitoneal Fibrosis: A Rare Cause of Acute Renal Failure. Case Reports in Nephrology. 2012; 2012:https://www.hindawi.com/journals/crin/2012/645407/cta/.