Rare Gastroenterology News

Disease Profile

Recurrent respiratory papillomatosis

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

5,135 - 46,215

Europe Estimated

Age of onset

Childhood

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ICD-10

-

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)

RRP; Juvenile laryngeal papilloma; Laryngeal papilloma, recurrent;

Categories

Ear, Nose, and Throat Diseases; Lung Diseases

Summary

Recurrent respiratory papillomatosis (RRP) is a rare viral disease where tumors (papillomas) grow in the air passages leading from the nose and mouth into the lungs (respiratory tract). There are two types, a juvenile-onset form and an adult-onset form. The tumors can cause a hoarse voice, chronic cough, and difficulty breathing. They may vary in size and grow very quickly, and may grow back even when removed. These tumors rarely become cancerous, but can cause long-term airway and voice complications. RRP is caused by two types of human papillomavirus (HPV), called HPV 6 and HPV 11. It is transmitted from an infected mother to her baby through the placenta or through the birth canal. HPV can also be transmitted from one adult to another through oral sex. RRP is treated by surgical removal of the tumors and sometimes using additional medications. The HPV vaccine can help prevent infection.[1][2][3][4]

Symptoms

The following list includes the most common signs and symptoms in people with recurrent respiratory papillomatosis (RRP). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list also does not include every symptom or feature that has been described in this condition.
Symptoms may include:[1][3]

  • Growth of benign (non-cancerous) tumors in the airway
  • Voice hoarseness (dysphonia)
  • Shortness of breath (dyspnea)
  • Chronic cough

Recurrent respiratory papillomatosis (RRP) is a chronic disease, meaning it is a long-term or persistent condition. It can occur in childhood, before age 12, or in adulthood, usually between ages 20-40. Earlier age at onset is associated with more severe symptoms. RRP is very unpredictable. In some people, RRP goes away on its own, while in others, it causes severe, recurring disease. Very rarely, the tumors in RRP can become cancerous and spread.[1][3][4]

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
80%-99% of people have these symptoms
Hoarse voice
Hoarseness
Husky voice

[ more ]

0001609
30%-79% of people have these symptoms
Dysphonia
Inability to produce voice sounds
0001618
Respiratory distress
Breathing difficulties
Difficulty breathing

[ more ]

0002098
5%-29% of people have these symptoms
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty

[ more ]

0002015
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Hemoptysis
Coughing up blood
0002105
Nonproductive cough
Dry cough
0031246
Recurrent pneumonia
0006532
Recurrent upper respiratory tract infections
Recurrent colds
0002788
Respiratory insufficiency
Respiratory impairment
0002093
Stridor
0010307
Tachypnea
Increased respiratory rate or depth of breathing
0002789
Upper airway obstruction
0002781
Wheezing
0030828
1%-4% of people have these symptoms
Atelectasis
Partial or complete collapse of part or entire lung
0100750
Choking episodes
0030842
Fever
0001945
Squamous cell carcinoma
0002860
Syncope
Fainting spell
0001279
Tracheomalacia
Floppy windpipe
0002779

Cause

Most cases of recurrent respiratory papillomatosis (RRP) are caused by two types of human papillomavirus (HPV), HPV 6 and HPV 11.[1][3]

Diagnosis

Recurrent respiratory papillomatosis (RRP) is diagnosed based on a clinical examination, the symptoms, and imaging studies, such as a CT scan. It is confirmed by doing a biopsy, which is removing a small piece of tumor tissue and testing it for features associated with papillomas.[1][2]

Treatment

There is no cure for recurrent respiratory papillomatosis (RRP). Surgery is the primary method for removing tumors to keep the airway open and maintain the voice.[2][3] Because the tumors often grow back, it is common for affected individuals to require repeat surgery. In the most extreme cases where tumor growth is aggressive, a tracheostomy may be performed.[2][3]

About 20% of people with RRP will need adjuvant therapies—therapies that are used in addition to surgery. These include antiviral and anti-tumor medications. The HPV vaccine helps to prevent infection and spread of the virus. There is some evidence that the HPV vaccine may reduce the severity of symptoms in people with RRP.[5]

Specialists who may be involved in the care of someone with RRP include: 

  • Otolaryngologist (ENT doctor)
  • Pulmonologist (lung specialist)
  • Surgeon
  • Infectious disease specialist

     

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

    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

    • The National Institute on Deafness and Other Communication Disorders (NIDCD) conducts and supports biomedical and behavioral research and research training in the normal and disordered processes of hearing, balance, smell, taste, voice, speech, and language. Click on the link to view information on this topic.
    • 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

      • 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 Recurrent respiratory papillomatosis. Click on the link to view a sample search on this topic.

        References

        1. Recurrent Respiratory Papillomatosis. National Organization for Rare Disorders (NORD). Updated 2019; https://rarediseases.org/rare-diseases/recurrent-respiratory-papillomatosis/.
        2. Fortes HR, von Ranke FM, Escuissato DL, Neto CAA, Zanetti G, et al.. Recurrent respiratory papillomatosis: A state-of-the-art review.. Respir Med. May 2017; 126:116-121. https://pubmed.ncbi.nlm.nih.gov/28427542.
        3. Derkay CS, Bluher AE. Update on Recurrent Respiratory Papillomatosis. Otolaryngol Clin North Am. May 2019; 52(4):669-679. https://pubmed.ncbi.nlm.nih.gov/31078306.
        4. Buchinsky FJ, Valentino WL, Ruszkay N, Powell E, Derkay CS, Seedat RY, Uloza V, Dikkers FG et al. Age at diagnosis, but not HPV type, is strongly associated with clinical course in recurrent respiratory papillomatosis.. PLoS One. 2019; 14(6):e0216697. https://pubmed.ncbi.nlm.nih.gov/31194767.
        5. Rosenberg T, Philipsen BB, Mehlum CS, Dyvrig AK, Wehberg S et al. Therapeutic Use of the Human Papillomavirus Vaccine on Recurrent Respiratory Papillomatosis: A Systematic Review and Meta-Analysis. J Infect Dis. Mar 15, 2019; 219(7):1016-1025. https://pubmed.ncbi.nlm.nih.gov/30358875.
        6. Ivancic R, Iqbal H, deSilva B, Pan Q, Matrka L. Current and future management of recurrent respiratory papillomatosis. Laryngoscope Investig Otolaryngol. 2018; 3(1):22-34. https://pubmed.ncbi.nlm.nih.gov/29492465.

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