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Disease Profile

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia

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.

Unknown

Age of onset

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ICD-10

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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)

DIPNECH

Categories

Lung Diseases

Summary

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare and poorly understood lung condition that is characterized by the abnormal overgrowth of certain cells in the lung (called pulmonary neuroendocrine cells) that receive signals from nerve cells (neurons) and produce hormones. People with this diagnosis may have no obvious symptoms or may exhibit features of airway disease such as a chronic, nonproductive cough, shortness of breath with exertion, and wheezing. It is considered to be a precancerous condition as studies suggest it is a precursor for pulmonary carcinoid tumors. The cause of DIPNECH is currently unknown.[1][2] Because so few cases have been reported in the medical literature, there is limited information on the prognosis and management of this condition.[3][4]

Symptoms

People with diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) usually do not have any signs and symptoms of lung disease, but they do have characteristic findings when their lung tissue is examined under a microscope.[1] 

When present, symptoms commonly shared by people with DIPNECH include:[1][2][3]

  • Chronic, nonproductive cough
  • Shortness of breath with exertion
  • Wheezing

Lung function either remains stable or slowly becomes worse over time. However, a small subset of people may have a rapidly progressive and life-threatening disease course.[1]

Cause

The cause of DIPNECH is still unknown. During fetal development, pulmonary neuroendocrine cells (PNC) are located throughout the whole respiratory tract as they have a key role in the regulation of lung development. In adulthood, PNCs are typically less numerous. However, a rapid increase in the number of PNCs (also known as reactive PNEC hyperplasia) may be observed in cigarette smokers, people living in high altitudes, or in people with certain chronic lung conditions (such as asthma, chronic obstructive pulmonary disease (COPD), cystic fibrosis, bronchiectasis, and diffuse interstitial pulmonary fibrosis). In contrast to reactive PNEC hyperplasia, people who are affected by DIPNECH do not have any of the risk factors or predisposing conditions listed above.[4]

Diagnosis

According to the World Health Organization (WHO), the diagnosis of DIPNECH is purely based on specific lung tissue characteristics observed under a microscope (i.e., an overgrowth of certain cells in the lung called pulmonary neuroendocrine cells). Lung tissue is obtained with a surgical lung biopsy. The diagnosis may first be suspected based on symptoms and/or a concerning chest imaging study. In other cases, the condition may be diagnosed incidentally in people with no obvious signs of airway disease.[1][4]

Treatment

Due to the rarity of the condition, there are no well-established guidelines for the treatment and management of diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH). Several medications have been studied as potential treatments for DIPNECH. Examples include somatostatin analogs (such as octreotide), inhaled corticosteroids, and short-acting beta agonists. Although some people with this disease reported temporary improvement in respiratory symptoms with the use of certain medications, none of the treatments were shown to be beneficial in all patients or to improve the overall outcome.[3] In very severe forms of the condition, palliative lung resection or even lung transplantation may be considered.[4]

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.

    In-Depth Information

    • PubMed is a searchable database of medical literature and lists journal articles that discuss Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia. Click on the link to view a sample search on this topic.

      References

      1. Rossi G, Cavazza A, Spagnolo P, Sverzellati N, Longo L, Jukna A, Montanari G, Carbonelli C, Vincenzi G, Bogina G, Franco R, Tiseo M, Cottin V, Colby TV. Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia syndrome. Eur Respir J. June 2016; 47(6):1829-1841. https://erj.ersjournals.com/content/47/6/1829.
      2. Marchevsky AM, Walts AE. Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH). Semin Diagn Pathol. November 2015; 32(6):438-444. https://www.ncbi.nlm.nih.gov/pubmed/26472691.
      3. Wirtschafter E, Walts AE, Liu ST, Marchevsky AM. Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia of the Lung (DIPNECH): Current Best Evidence. Lung. 2015 Oct;193(5):659-67. October 2015; 193(5):659-667. https://www.ncbi.nlm.nih.gov/pubmed/26104490.
      4. Chassagnon G, Favelle O, Marchand-Adam S, De Muret A, Revel MP. DIPNECH: when to suggest this diagnosis on CT. Clin Radiol. March 2015; 70(3):317-325. https://www.ncbi.nlm.nih.gov/pubmed/25465294.

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