Sandstorm in her Chest ?

Manmadha Rao Talluri

Nizam’s Institute of Medical Sciences, Hyderabad, India

History

• 32-year-old woman, housewife

• Dry cough, exertional dyspnea – 1 year

• No wheezing/ chest pain/ hemoptysis

• No malar rash/ photosensitivity

• No upper respiratory symptoms

Past History

No history of:

• Bronchial asthma

• Varicella in childhood

• Recurrent respiratory tract infections

• Rheumatic heart disease

• Tuberculosis

• Occupational dust exposure

• Similar complaints in family history

Examination

• P – 100, BP – 130/80, respiratory rate – 18, afebrile

• Facial puffiness with acne• Upper respiratory tract – normal• Lungs – bilateral basal fine end-inspiratory

crepitations, no rhonchi• Abdomen, CVS, CNS – normal• No clubbing

Dr. Newell

Other Tests

• Hb –15.2, TLC – 10,200, N 82, L 13, E 4, M 1• ESR – 35mm• Urine routine – normal• Renal function test – normal• Rheumatoid factor – positive• ANA – positive• Ds DNA, Anti SS-a, SS-b, U1 RNP – negative• PFT – severe restrictive defect• 2D ECHO – normal

Question

What is the most likely diagnosis?

1. Varicella zoster (chicken pox)

2. Pulmonary talcosis

3. Histoplasmosis

4. Pulmonary alveolar microlithiasis

5. Sarcoidosis

Question

What would you do next?1. Nothing, the diagnosis is obvious

2. Bronchoscopy with bronchoalveolar lavage

3. Bronchoscopy with transbronchial biopsies

4. Video-assisted thoracoscopic (VATS) biopsy

5. Open-lung biopsy

Dr. Heffner

Dr. Leslie

Transbronchial Biopsy

Transbronchial Biopsy

Final Diagnosis

PULMONARY ALVEOLAR MICROLITHIASIS

Clinical Course

• Given corticosteroids and theophylline for dyspnea

• Advised lung transplantation– Not done due to financial constraints

• Patient gradually worsened in course of 2 years and succumbed to respiratory failure

Pulmonary Alveolar Microlithiasis

• Rare disease of unknown pathogenesis

• Usually sporadic; autosomal recessive form described (Mediterranean countries)

• Paucity of symptoms despite widespread involvement

• Cough & dyspnea in 3rd & 4th decade

• Death usually in mid-life due to respiratory failure and cor pulmonale

Pulmonary Alveolar Microlithiasis

• Widespread laminated calcispherites in alveolar spaces

• Absence of any known disorder of calcium metabolism

• Unknown stimulus• Changes in the alveolar lining membrane or

secretions result in greater alkalinity, promoting intra-alveolar precipitation of calcium phosphates and carbonates

• Serum surfactant protein – A & D are markedly elevated– Increase as disease progresses– Function as serum markers to monitor

disease activity and progression• Mutations in SLC34A2 gene expressed in type

II pneumocytes which encode type IIb sodium phosphate co-transporter

• No known therapy

• Corticosteroids, chelating agents and BAL have demonstrated no benefit

• Role of bisphosphonates remains to be proven

• Bilateral lung transplantation for advanced cases

Chest X-ray/ CT“Sand storm” appearance

Black Pleura sign

Crazy paving pattern

Take Home Message

• In no other condition is the lack of association between roentgenologic and clinical findings so striking as in PAM

• PAM should always be considered in the differential diagnosis of calcific micronodular pulmonary lesions

References

• Barbolini G, Rossi G, Bisetti A. Pulmonary alveolar microlithiasis. N Engl J Med 2002; 347:69–70.

• K. Gowrinath and Arun R. Warrier Pulmonary alveolar microlithiasis, Lung India 2006; 23:42-44.

• Gasparetto EL, Tazoniero P, Escuissato DL, et al. Pulmonary alveolar microlithiasis presenting with crazy-paving pattern on high resolution CT. Br. J. Radiol.2004; 77: 974-976

• Chan Ed, Morales DV, Welsh CH, et al. Calcium deposition with or without bone formation in the lung. Am J Respir Crit Care Med. 2002;165(12):1654-1669

• Korn MA, Schurawitzki H, Klepetko W, et al. Pulmonary alveolar microlithiasis: findings on high-resolution CT. AJR Am J Roentgenol. 1992 ; 158(5):981-982.

• Johkoh T, Itoh H, Müller NL, et al. Crazy paving appearance at thin-section CT. Spectrum of disease and pathologic findings. Radiology 1999; 211:155–160

• Takahashi H, Chiba H, Shiratori M, et al. Elevated serum surfactant protein A and D in pulmonary alveolar microlithiasis. Respirology. 2006; 11(3): 330-333