Endocrine and metabolic assessment in adults with Langerhans cell histiocytosis.

CONTEXT: Diabetes insipidus (DI) is one of most common complications of Langerhans cell histiocytosis (LCH) but prevalence of anterior pituitary deficiencies and metabolic alterations have not been clearly defined yet. OBJECTIVES: Evaluate prevalence of endocrine and metabolic manifestations in a cohort of patients affected by Pulmonary LCH. METHODS: Observational cross-sectional study on 18 adults (7 M/11 F, 42±12years) studied for complete basal and dynamic endocrine lab tests and glucose metabolism. RESULTS: Hypothalamic-pituitary endocrine alterations were found in 9 patients: 9 had DI, 5 Growth Hormone Deficiency (GHD), 5 central hypogonadism, 3 central hypothyroidism and 1 central hypoadrenalism. Hyperprolactinemia and hypothalamic syndrome were found in 2 patients each. All these central endocrine alterations were always associated to DI. Five of the 10 MRI performed showed abnormalities. Prevalence of obesity and glucose alterations (either DM or IFG/IGT) were respectively 39% and 33%, higher than expected basing on epidemiological data on general Italian population. Multi-system-LCH without risk-organ involvement (LCH MS-RO-) seems to have slightly higher prevalence of insulin resistance, glucose alterations and metabolic syndrome than LCH with isolated lung involvement (LCH SS lung+). A papillary BRAFV600E positive thyroid carcinoma was diagnosed in one patient. CONCLUSIONS: The presence of anterior pituitary deficiencies should be systematically sought in all LCH patients with DI both at diagnosis and during the follow-up by basal and dynamic hormonal assessment. Patients with pulmonary LCH, particularly those with MS disease, have a worse metabolic profile than general population. Occurrence of papillary thyroid carcinoma has been reported.

Chest Computed Tomographic Image Screening for Cystic Lung Diseases in Patients with Spontaneous Pneumothorax Is Cost Effective.

RATIONALE: Patients without a known history of lung disease presenting with a spontaneous pneumothorax are generally diagnosed as having primary spontaneous pneumothorax. However, occult diffuse cystic lung diseases such as Birt-Hogg-Dubé syndrome (BHD), lymphangioleiomyomatosis (LAM), and pulmonary Langerhans cell histiocytosis (PLCH) can also first present with a spontaneous pneumothorax, and their early identification by high-resolution computed tomographic (HRCT) chest imaging has implications for subsequent management. OBJECTIVES: The objective of our study was to evaluate the cost-effectiveness of HRCT chest imaging to facilitate early diagnosis of LAM, BHD, and PLCH. METHODS: We constructed a Markov state-transition model to assess the cost-effectiveness of screening HRCT to facilitate early diagnosis of diffuse cystic lung diseases in patients presenting with an apparent primary spontaneous pneumothorax. Baseline data for prevalence of BHD, LAM, and PLCH and rates of recurrent pneumothoraces in each of these diseases were derived from the literature. Costs were extracted from 2014 Medicare data. We compared a strategy of HRCT screening followed by pleurodesis in patients with LAM, BHD, or PLCH versus conventional management with no HRCT screening. MEASUREMENTS AND MAIN RESULTS: In our base case analysis, screening for the presence of BHD, LAM, or PLCH in patients presenting with a spontaneous pneumothorax was cost effective, with a marginal cost-effectiveness ratio of $1,427 per quality-adjusted life-year gained. Sensitivity analysis showed that screening HRCT remained cost effective for diffuse cystic lung diseases prevalence as low as 0.01%. CONCLUSIONS: HRCT image screening for BHD, LAM, and PLCH in patients with apparent primary spontaneous pneumothorax is cost effective. Clinicians should consider performing a screening HRCT in patients presenting with apparent primary spontaneous pneumothorax.

[Computed tomography in the assessment of causes of restrictive lung disorders in patients with pulmonary histiocytosis X].

OBJECTIVE: To estimate the capabilities of computed tomography (CT) in revealing the anatomic causes of restrictive lung changes in patients with pulmonary histiocytosis X. SUBJECT AND METHODS: The results of examining 36 patients with pulmonary histiocytosis X, who underwent comprehensive functional study of external respiration (CRSER), CT, and high-performance CT (HPCT), were analyzed. RESULTS: According to the results of CRSER, the authors identified a group of patients with restrictive ventilation disorders, which included 7 men and 1 woman. The most common cause of restrictive disorders was generalized fibrous changes in lung tissue, which fails to result in its expansion. Multiple cysts were another cause of restrictive disorders in 2 patients. Fusion of individual cysts into large ones and the formation of a great number of paradoxically ventilated cysts were the third cause of restrictive disorders in pulmonary histiocytosis X, which was identified during HPCT. CONCLUSION: Comprehensive morphofunctional examination involving CRSER and high-resolution CT can reveal the unfavorable course of pulmonary histiocytosis X with the restrictive type of lesion.