Rare Lung Disease

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Clinician 
ATS Educational Products on Hermansky-Pudlak (select items below)

2009

- A90  Lessons From Pulmonary Fibrosis In Hermansky Pudlak Syndrome NHGRI

- A90 Genomics And Pulmonary Fibrosis

For more Best of ATS Conferences materials visit the following link : https://cms.psavcns.com/library/ats


Clinician 
ATS journal articles on Hermansky-Pudlak Syndrome (select abstracts listed below)

Hermansky-Pudlak Syndrome: AJRCCM

Early Alveolar Epithelial Dysfunction Promotes Lung Inflammation in a Mouse Model of Hermansky-Pudlak Syndrome
(Read Abstract)
Volume 184; August 15, 2011

Epithelial Stress and Apoptosis Underlie Hermansky-Pudlak Syndrome-associated Interstitial Pneumonia
(Read Abstract)
Volume 182; July 15, 2010

Alveolar Macrophage Dysregulation in Hermansky-Pudlak Syndrome Type 1
(Read Abstract)
Volume 180; December 1, 2009

Hermansky-Pudlak Syndrome: AJRCMB

Susceptibility of Hermansky-Pudlak Mice to Bleomycin-Induced Type II Cell Apoptosis and Fibrosis
(Read Abstract)
Volume 37; July 1, 2007

Defective Surfactant Secretion in a Mouse Model of Hermansky-Pudlak Syndrome
(Read Abstract)
Volume 33; July 1, 2005

 


Clinician 

Case Study

Submitted by:
Bernadette R. Gochuico, M.D.
Medical Genetics Branch, NHGRI, NIH
Building 10, Room 10C103
10 Center Drive, MSC 1851
Bethesda, MD  20892-1851
Telephone: 301-451-7979
Fax: 301-480-7825

History of present illness: A 46 year old woman was in her usual state of good health until she experienced insidious onset of gradually progressive dyspnea on exertion for three months. She denies cough, fever, chills, sweats, sputum production, hemoptysis, wheezing, chest pain, and orthopnea. She has not had recent contact with ill people or animals.

Past medical history is notable for gastroesophageal reflux disease, history of laser therapy for ovarian cancer, and status post bilateral knee surgery. OB/GYN history is remarkable for four vaginal deliveries and history of menorrhagia.

Medications include albuterol as needed.

She smoked minimally 25 years ago. She ingests alcohol on social occasions. She has no known exposures to tuberculosis, unusual fibers or dust, or birds. She has no history of recent travel. She has four healthy children.

On examination, she is a Latina woman who is comfortable at rest. Temperature is 37.1oC, blood pressure is 134/72 mm Hg, HR is 76/min, RR is 18/min, and oxygen saturation is 97% on room air. Horizontal nystagmus and decreased visual acuity are present. There is no jugular venous distention. Cardiac examination reveals regular rate and rhythm, normal heart tones, and no rubs or gallops. Mild bilateral basilar crackles are audible. Abdominal examination is unremarkable. No wheezing, peripheral edema, digital clubbing, joint deformities, synovitis, or rashes are observed.

Laboratory tests reveal normal chemistries. Rheumatoid factor and ANA are negative. Complete blood count shows WBC 10.4 K/mcL with normal differential count, hemoglobin 13.8 g/dL, and platelet count  229 K/mcL. 

Pulmonary function tests reveal FEV1 68% predicted, FVC 61% predicted, FEV1/FVC 91%, TLC 72% predicted, and DLCO 40% predicted. There is no significant change in FEV1 or FVC following inhalation of bronchodilator.

Chest X-ray shows bilateral interstitial infiltrates. There are no pleural effusions. Heart size is normal. High-resolution CT scan reveals bilateral interstitial infiltrates, ground glass opacification, honeycombing, and traction bronchiectasis. Representative images are shown in Figures 1a and 1b.

Question 1
What is the most likely diagnosis?

- Idiopathic pulmonary fibrosis
- Hypersensitivity pneumonitis
- Hermansky-Pudlak Syndrome pulmonary fibrosis
- Scleroderma associated pulmonary fibrosis
- Dyskeratosis congenita

Question 2
What test should be performed to establish a diagnosis in this patient?

- Measurement of telomere length
- Electron microscopic evaluation of platelets
- Special stains of lung biopsy tissue
- Bone marrow biopsy
- Intradermal skin testing

A left thoracoscopic wedge biopsy of the lingular segment of the left upper lobe was performed. A representative high magnification field is shown in Figure 2. Post-operative course was notable for bleeding and partial pneumothorax. She was treated with supplemental oxygen. 

Question 3
Which statement is true?

- a. Lung biopsy is often needed to establish a diagnosis.
- b. Lung biopsy is contraindicated in people with this disorder who have typical HRCT scan findings of pulmonary fibrosis.
- c. People with this disorder should receive pre-operative prophylactic treatment for possible hemorrhage.
- a and c
- b and c

After 4 months, pulmonary function tests declined and showed FEV1 36% predicted, FVC 30% predicted, TLC 35% predicted, and DLCO 17% predicted. 

Question 4
How should this patient be treated?

- Systemic corticosteroids and cyclophosphamide
- Lung transplantation
- Bone marrow transplantation
- Intravenous immunoglobulin
- Rapamycin

After 5 months, the patient underwent successful single lung transplantation.

Answers to questions:

  1. Hermansky-Pudlak Syndrome pulmonary fibrosis
  2. Electron microscopic evaluation of platelets
  3. b and c
  4. Lung transplantation

Resources: HPS Network (www.hpsnetwork.org)

Figures 1a and 1b. HRCT scan images.

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Figure 2. Lung biopsy histopathology.

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