Lymphocytic Interstitial Pneumonitis is often seen in conjunction with systemic diseases whether auto-immune, inflammatory or infectious. We report the first case of LIP in a patient with Tangier’s disease. Tangier’s disease is an extremely rare, autosomal recessive metabolic disorder, characterized by a severe deficiency in HDL cholesterol and accumulation of foamy macrophages in different tissues. Affected patients present with enlarged yellow/orange tonsils, hepatosplenomegaly, polyneuropathy, and an increased risk for coronary heart disease. A mutation in the ABC1 gene on chromosome 9q31 is believed to be responsible for the disease.
A 51-year-old Caucasian female was seen for shortness of breath and dyspnea on exertion of 5 months duration. The patient was admitted for evaluation of a polyneuropathy of 3 years duration that was refractory to multiple treatment modalities including plasma exchange and a course of cyclosporine. Her past medical history was significant for hypertension and a tonsillectomy. Her medication list included, Valsartan, Quinine, Amlodipine and Cyclosporine. The family history was positive for a sibling with recurrent Bell’s Palsy. She was a life long non-smoker, denied drug or alcohol abuse. She was an office worker with no particular exposure. She did not have risk factors for HIV. Her physical examination was pertinent for an oxygen saturation of 91% while breathing room air, bilateral lid implants and the presence of bilateral dry crackles “Velcro” at the basis of the lungs. The neurological exam was consistent with a bilateral polyneuropathy affecting the facial nerve and the extremities. Blood gases performed on room air showed a pH of 7.44, PCO2 of 35 torr and a PO2 of 58 torr. Pulmonary function tests showed a mild restrictive disorder, with a markedly reduced DLCO (40%). A Computed Tomography of the chest, revealed thickening of the intralobular septa, predominantly in the lower lobes. Absence mediastinal or hilar adenopathy, and an enlarged spleen. Blood work revealed an undectable level of HDL cholesterol and absence of anti-Ro and anti-La autoantibodies. A flexible bronchoscopy was undiagnostic but ruled out an infectious etiology. An open lung biopsy showed Lymphocytic Interstitial Pneumonitis, with atypical histiocytosis. A nerve biopsy showed abnormal Schwann cells with an abundance of cytoplasmic lipids. Therapy with oral corticosteroids was initiated and four months follow up showed resolution of the computed tomography findings, improvement of the DLCO and resolution of the respiratory symptoms. The neuropathy remained unchanged.
The findings of low HDL cholesterol, splenomegaly, polyneuropathy with abnormal Schwann cells on nerve biopsy, confirm the diagnosis of Tangier’s Disease. Lymphocytic interstitial pneumonitis was diagnosed through an open lung biopsy, and the usual associated disorders ruled out (negative lip biopsy and auto-antibodies for Sjogren disease, negative HIV serology). Idiopathic LIP is very uncommon. The occurrence of two rare disorders in the same patient makes a coincidental occurrence unlikely. The presence of histiocytes in the lung interstitium is atypical in LIP. We speculate that those abnormal histiocytes secondary to Tangier’s disease might have induced a lymphocytic accumulation through an unknown immunological messaging pathway.
This is the first description of a patient with Tangier’s disease and simultaneous LIP.
N.Y. Aoun, None.