Rare and Interesting Cases in Pulmonary Medicine

Ali Ataya, Eloise Harman

• Publisher: Academic Press
• Year: 2017
• Print ISBN:
  9780128095904
• eBook ISBN:
  9780128097670
• Topic: Biological Sciences
• Subtopic: Internal Medicine & Diagnosis
• Index: Biological Sciences

Rare and Interesting Cases in Pulmonary Medicine provides a look into the uncommon diseases encountered in the field of pulmonary medicine. Using a case-based approach, the book provides clinical scenarios that include relevant accompanying radiology and pathology. Also included are frequently asked questions for each area, as well as a diagnosis and summary, presenting the reader with the most high yield information on each topic. Appropriate for medical students, residents, fellows, and physicians interested in pulmonary medicine, the case-based approach to each topic allows accessibility to the uncommon diseases of the field while also highlighting high yield and important points. - Provides case-based approaches to the uncommon diseases of pulmonary medicine, including supporting radiology and pathology - Includes uncommon case studies, providing relevant references for further reading and research opportunities - Presents related topics with accompanying clinical pearls for direct application in the field

Case 1

Abstract

A case of nodular lung disease and mediastinal adenopathy secondary to pulmonary amyloidosis is described. Pulmonary amyloidosis occurs as a result of amyloid deposition in lung tissue, and may be idiopathic or secondary to a chronic condition. Amyloidosis may manifest in the lungs in different ways and diagnosis is made on biopsy. No effective treatment exists to date.

Keywords

Apple-green birefringence; Cavitary lesions; Congo red stain; Mediastinal adenopathy; Nd–YAG laser; Pulmonary amyloidosis; Tracheobronchial amyloidosis

 

A 60-year-old Caucasian female presents with progressive shortness of breath with exertion and a nonproductive cough for the last year and a half. She is a lifelong nonsmoker, has no significant past medical problems, and is not on any medications.

Examination of the heart and lungs is normal and there is no digital clubbing. A chest computed tomography scan revealed multiple small peripheral nodular opacities in the right upper and lower lobes as well as hilar and mediastinal adenopathy (Fig. 1.1). Endobronchial ultrasound with transbronchial needle aspiration of the mediastinal lymph nodes was performed. Histology is shown in Fig. 1.2. Further workup showed no other organ involvement of the disease.

Figure 1.1 Chest computed tomography scan with contrast showing enlarged mediastinal 4R node.

Figure 1.2 Histology showing clumps of amorphous material with Congo red stain under polarized light.

What is the diagnosis?

Pulmonary Amyloidosis

Amyloidosis is a systemic disease characterized by extracellular deposition of amyloid, which constitute insoluble β-pleated protein sheets, in different organs. Amyloidosis can be primary/idiopathic (AL type), or secondary/reactive (AA type). The secondary form may occur in the setting of an underlying malignancy, chronic inflammatory, or infectious disease, appear in the setting of chronic renal disease, or be heritable. Isolated pulmonary amyloidosis usually occurs in the setting of the idiopathic form of the disease. Isolated pulmonary amyloidosis is characterized by the occurrence of amyloidosis in the lungs without any systemic involvement.

Patients have nonspecific symptoms due to the diversity of its pulmonary manifestations and tissue biopsy is necessary to make the diagnosis. Isolated pulmonary amyloidosis comes in multiple forms:

1. Tracheobronchial amyloidosis: Most common form. Patients may present with cough, dyspnea, wheezing, or hemoptysis. Patients may have thickened trachea with stenosis. If proximal lesions are present, they may result in fixed upper airway obstruction.

2. Nodular form: Patients may be asymptomatic or present with a cough. A single nodule or multiple small nodular lesions may appear peripherally in the lower lobes. Amyloid nodules may be calcified and cavitate in 10% of cases.

3. Amyloid adenopathy: Amyloid is deposited in the hilar and mediastinal lymph nodes, usually bilaterally. This form of the disease rarely occurs alone or without systemic involvement.

4. Diffuse interstitial form: This is the rarest form of the disease. Amyloid gets deposited in the pulmonary interstitium between the alveoli and blood vessels, impairing gas transfer. Imaging will show a reticular or reticulonodular pattern that may present asymmetrically. Patients succumb to respiratory failure.

Tissue biopsy is the gold standard for diagnosis. Histology will show pink amorphous material that under polarized light will stain apple-green birefringence with Congo red stain.

There is no effective treatment for the disease. Patients with tracheobronchial involvement may undergo bronchoscopic treatment with Nd–YAG laser or clipping for obstructing lesions. For other forms external beam radiation and systemic immunosuppression have been used to halt progression.

This patient underwent further workup that showed no systemic involvement, including a bone marrow biopsy. She was diagnosed with nodular amyloid with hilar and mediastinal lymph node involvement and referred for systemic chemotherapy treatment.

Takeaway Points

• Tissue Congo red staining demonstrating apple-green birefringence is pathognomonic for amyloidosis.

• Pulmonary amyloidosis may present as tracheobronchial involvement, nodular disease, thoracic adenopathy, and/or diffuse parenchymal involvement.

Further Reading

Thompson P.J, Citron K.M. Amyloid and the lower respiratory tract. Thorax. 1983;38:84–87.

Utz J.P, Swensen S.J, Gertz M.A. Pulmonary amyloidosis: the Mayo Clinic experience from 1980 to 1993. Ann. Intern. Med. 1996;124:407–413.

Case 2

Abstract

A case of a young female with a history of urticaria, angioedema, and lower lung base emphysema is described. Given the patient's low smoking exposure, a thorough history and workup arrived to the clinical diagnosis of hypocomplementemic urticarial vasculitis syndrome. This rare syndrome is a cause of nonsmoking-associated emphysema similar to that seen in α1-antitrypsin deficiency patients. A brief review of the syndrome and other causes of nonsmoking-associated emphysema disorders is presented.

Keywords

Angioedema; C1q precipitin antibody; Emphysema; HUVS; Hypocomplementemic urticarial vasculitis syndrome; Urticaria; Vasculitis

A 40-year-old female ex-smoker, with less than a 10 pack-year smoking history, is seen for a 4-year history of exertional dyspnea, significantly worse over the last few months. On system review, she reports a long history of a persistent urticarial skin rash, arthralgias, and recurrent abdominal pain. She also has experienced multiple episodes of angioedema of unknown etiology, for which she required epinephrine and corticosteroids but never endotracheal intubation.

Examination reveals a female with a normal body mass index sitting in the tripod position, saturating 90% on a 3-L nasal cannula oxygen. She has decreased air entry and expiratory wheezes best heard in the lung bases. There are no active skin lesions and ...

Table of contents

• Cover image
• Title page
• Table of Contents
• Copyright
• Dedication
• ORS Contributors
• Preface
• Case 1
• Case 2
• Case 3
• Case 4
• Case 5
• Case 6
• Case 7
• Case 8
• Case 9
• Case 10
• Case 11
• Case 12
• Case 13
• Case 14
• Case 15
• Case 16
• Case 17
• Case 18
• Case 19
• Case 20
• Case 21
• Case 22
• Case 23
• Case 24
• Case 25
• Case 26
• Case 27
• Case 28
• Case 29
• Case 30
• Case 31
• Case 32
• Case 33
• Case 34
• Case 35
• Case 36
• Case 37
• Case 38
• Case 39
• Case 40
• Case 41
• Case 42
• Case 43
• Case 44
• Case 45
• Case 46
• Case 47
• Case 48
• Case 49
• Case 50
• Case 51
• Case 52
• Case 53
• Case 54
• Case 55
• Case 56
• Case 57
• Case 58
• Case 59
• Case 60
• Index