Mary Grace1, Shameer VK2, Akhilesh3, Arun P4
1Dr Mary Grace Associate Professor in Medicine, Government Medical College Thrissur, 2Dr Shameer V K Assistant Professor in Medicine, Government Medical College Thrissur, 3Dr Akhilesh Senior Resident in Medicine, Government Medical College Thrissur, 4Dr Arun P, Junior Resident in Medicine, Government Medical College Thrissur, Kerala, India
Address for Correspondence: Dr Mary Grace, E-mail: nc.grace@yahoo.in
Abstract
We report a case of Hermansky –Pudlak syndrome in a 34 year old lady who was born of non consanguineous marriage The incidence of HPS is highest in Puerto Rico.There are increasing reports of HPS among Indians. There are only rare case reports where the mode of inheritance is not autosomal recessive.
Keywords: Dyspnea, Pulmonary Fibrosis, Oculocutanoues Albinism
Manuscript received: 1st July 2015, Reviewed: 13th July 2015
Author Corrected: 24th July 2015, Accepted for Publication: 11th Aug 2015
Introduction
Hermansky-Pudlak syndrome is an autosomal recessive genetic disorder characterized by oculocutaneous albinism, platelet dysfunction. Most of the patients in whom the disorder has been identified and characterized are of Puerto Rican descent. It is possible that HPS in India is under-diagnosed. There have been case reports of this disease in people of Indian origin of the eight subtypes HPS -1 was identified in the patients of Indian origin.
Case Report
A 34 year old lady presented with sudden onset of breathlessness of one week duration. There was no associated cough, fever, palpitation, chest pain. She had occasional episodes of epistaxis and bleeding from the skin. She was born of non consanguineous marriage. On examination she had oculocutaneous albinism, cutaneous telengiectasias and nystagmus. Her blood pressure was 120/70 mm of Hg and her pulse rate was 92/minute. Her respiratory rate was 36/minute and she was cyanosed. Cardiovascular system was normal. Auscultation of chest showed few scattered crepitations. Investigations showed normal hemogram, blood sugar, renal and liver function tests. X-ray chest and echocardiogram was also normal. CT scan chest showed evidence of diffuse pulmonary fibrosis. In view of the oculocutaneous albinism, nystagmus and CT chest showing diffuse pulmonary fibrosis, a diagnosis of Hermansky Pudlak syndrome was entertained. She was started on steroids and pirfenidone and antibiotics. Steroids was initially given in a dose of 40 mg/day and then gradually tapered. Pirfenidone was initially given 276 mg one tab three times daily and plan to increase it to three tabs tid. She improved and was put on continuous pirfenidone treatment.
Discussion
Hermansky Pudlak syndrome (HPS) is a rare autosomal recessive disorder, characterized by oculocutaneous albinism, bleeding diathesis due to platelet dysfunction, pulmonary fibrosis, granulomatous colitis, cardiomyopathy and renal failure. The global incidence of HPS is 1 in 500,000-10, 00,000 [1]. HPS is now being increasingly recognized in people of Indian descent, as well as in countries like Pakistan, Holland and Japan [2]. There are case reports of HPS in children born of unrelated parents [3].
Of the eight known subtypes only HPS -1 and HPS-4 develop pulmonary fibrosis [4]. Pulmonary fibrosis manifests in the 4th and 5th decades of life. Pulmonary fibrosis is due to deposition of ceroid like substance in liposomes of reticuloendothelial cells, bone marrow and lung macrophages [5]. Pulmonary fibrosis contributes significantly to the mortality of these patients. Average life span is around 30-50 years. The definitive treatment for pulmonary fibrosis in HPS is lung transplantation. Corticosteroids are ineffective. Pirfenidone, an antifibrotic agent has been shown to be effective in slowing down the progression of fibrosis in type 4 HPS [6]. Other aspects of treatment include avoidance of smoking, early treatment of respiratory infections and regular pneumococcal and influenza vaccination.
Fig 1: CT scan chest showed evidence Fig 2: oculocutaneous albinism fibrosis
of diffuse pulmonary
Fig 3: Cutaneous albinism
Funding: Nil, Conflict of interest: None initiated.
Permission from IRB: Yes
References
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How to cite this article?
Mary Grace, Shameer VK, Akhilesh, Arun P. Hermansky–Pudlak Syndrome a Case Report. Int J Med Res Rev 2015;3(7):754-756. doi: 10.17511/ijmrr.2015.i7.145.