|Year : 2014 | Volume
| Issue : 2 | Page : 78-80
Hermansky-Pudlak syndrome: A case report
R Vani, S Keertihvasan, K Anbananthan
Department of Chest and Tuberculosis, Coimbatore Medical College Hospital, Coimbatore, Tamil Nadu, India
|Date of Web Publication||23-Jun-2014|
Flat 4 Block Leela Apartments, Ponniarajapuram, Coimbatore 641 001, Tamil Nadu
Source of Support: None, Conflict of Interest: None
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, which results in oculocutaneous albinism, bleeding disorders, and storage of abnormal fat protein compound (liposomal accumulation of ceroid lipofuscin). The major complications of this disorder are pulmonary fibrosis (PF) and colitis. This is a case report of an HPS patient with PF.
Keywords: Hermansky-Pudlak syndrome, pulmonary fibrosis, high resolution computerized tomography, spirometry
|How to cite this article:|
Vani R, Keertihvasan S, Anbananthan K. Hermansky-Pudlak syndrome: A case report. J Assoc Chest Physicians 2014;2:78-80
| Introduction|| |
Hermansky-Pudlak syndrome More Details (HPS) is characterized by a triad of oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis (PF). It was described by Hermansky and Pudlak in 1959, who reported diffuse PF in one of their patients. Following this, many cases of HPS associated with PF have been reported. HPS is a rare autosomal recessive disorder. HPS is common in North-West Puerto Rico  where the incidence is 1/500 000.
The rare incidence in non-Puerto Rican regions has limited our experience on the HPS. PF that causes early death is often misdiagnosed.  More cases with newer genetic associations are being reported from non-Puerto Rican regions. Hence, the knowledge regarding HPS and its workup is essential. Early screening of HPS patients for PF and intervention with long-term oxygen therapy (LTOT) and antifibrotics will reduce the morbidity. Here, we describe a patient-a case of HPS who presented to our department with respiratory symptoms.
| Case Report|| |
A 31-year-old male with oculocutaneous albinism reported to our department with cough, scanty expectoration, and gradually increasing breathlessness for 3 months. He denied wheeze, fever, and chest pain. Initially the patient had attended a private clinic where he was misdiagnosed as pulmonary tuberculosis and started on antituberculous therapy. Because he showed no improvement after 3 weeks, he was referred to our hospital. He had history of easy bruising. He had no gastrointestinal symptoms. He was born of consanguineous marriage and there is history of albinism in one of his forefathers.
On examination the patient had oculocutaneous albinism [Figure 1] and [Figure 2]. He was dyspnoeic at rest and had nystagmus and clubbing [Figure 3]. His vitals were stable and pulse oximetry showed a saturation of 92% in room air. Examination of the respiratory system revealed bilateral basal inspiratory crackles (Velcro crackles). Fundal examination showed bilateral albinotic fundus.
Chest radiography showed bilateral reticular pattern with lower zone predominance suggestive of interstitial lung disease. High resolution computerized tomography of the lung showed bilateral reticular opacities with areas of subpleural honeycombing suggestive of usual interstitial pneumonia (UIP) or PF [Figure 4].
|Figure 4: High resolution computerised tomography showing the pulmonary fibrosis|
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Spirometry showed a severe restrictive pattern with forced vital capacity (FVC) of 25% of the predicted. His 6-minute walk distance was 250 meters with a desaturation of 3%. The hematological and biochemical parameters were normal. Cardiac evaluation was normal. Ophthalmic examination revealed a low visual acuity. Gastroenterology workup showed no evidence of colitis.
The patient was started on tablet Prednisolone 1 mg/kg body weight and LTOT and is under follow up. He was advised influenza and pneumococcal vaccination.
| Discussion|| |
HPS is a rare autosomal recessive disorder. It is characterized by tyrosinase-positive oculocutaneous albinism and bleeding diathesis. Genes associated with HPS code for formation of lysosome-related organelles required for breakdown of liposomes and results in this storage disorder. The systemic complications may be due to accumulation of ceroid lipofuscin that leads to PF and colitis.
The diagnosis is established by the typical skin, hair, and ocular hypopigmentation and absent dense bodies on electron microscopy of platelets. Molecular testing is available in Puerto Rico. Nine genotypes have been identified.  Specifically those with genotypes HPS 1, HPS 2, or HPS 4 are predisposed to interstitial lung disease.  PF exhibits in the fourth decade and is the usual cause of death. The mean survival is 30-50 years. Death results due to PF in 50%, bleeding disorder in 15%, and granulomatous colitis in 15%.
The rarity of this disease in non-Puerto Rican regions leads to lack of suspicion of the features of the syndrome. Early diagnosis and intervention decreases the morbidity and mortality related to PF. Hence, a schematic examination covering all the features of the syndrome is essential.
The examination should include history regarding ocular problems that range from photophobia, strabismus to nystagmus. History of progressing dyspnoea and dry cough should be noted. Previous chest radiographs and spirometry will be helpful in assessment of pulmonary status. History regarding gastrointestinal disturbances and bleeding tendency should be recorded. A chest radiograph, spirometry, and colonoscopy should be done. In resourceful settings, evaluation should include genetic linkage analysis, desmopressin trial, bone densitometry, electron microscopic study of platelets, and so forth.
High resolution computerized tomography of lung reveals abnormalities in 82% of patients.  The findings are similar to that of the UIP of idiopathic PF. Reticular opacities involving the entire lung with lower zone predominance, subpleural honey combing, and traction bronchiectasis is typical of the PF. Spirometry reveals restrictive pattern. A correlation of age, extent of lung involvement based on computerized tomography, and the genetic type can help in defining the progression of PF.  A 6-minute walk distance and baseline pulse oximetry is useful in follow up. A lung biopsy is not necessary in case of typical computerized tomography findings. 
Management of PF is only supportive with LTOT with oxygen administered for minimum of 18 h/day including sleep that helps in correction of hypoxia. The antifibrotic drug-Pirfinidone-used in idiopathic PF, though not a definitive treatment, has shown to delay the progression of PF in HPS.  Influenza, pneumococcal vaccination, and avoidance of smoking should be advised. The definitive treatment for PF of HPS is lung transplantation.
The case study is to bring forth the association of HPS with PF, which may be misdiagnosed as in our case.  A multidisciplinary work up as described including a high resolution computerized tomography of lung leads to early diagnosis and treatment of PF, thus reducing the morbidity and mortality.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]