[MIM 203 300, 614 072, 614 073, 614 074, 614 075, 614 076, 614 077, 614 171]

The prevalence of all forms of this syndrome is estimated at between 1/50 000 and 1/1 000 000 in non-Puerto Rican populations. Autosomal recessive transmission of mutations of one of the 8 genes HPS (Hermansky-Pudlak Syndrome) coding for regulatory proteins of lysosome-related organelles.

Syndrome causing a multisystem disease characterized by an oculo-cutaneous albinism, a hemorrhagic status and, sometimes, pulmonary fibrosis or a granulomatous colitis.

One distinguishes:

• 1) Hermansky-Pudlak syndrome not complicated with pulmonary fibrosis : it includes three relatively mild forms (HPS-3, HPS-5 and HPS-6): it is a multisystem disease characterized by an ocular or oculo-cutaneous albinism, a hemorrhagic status and, sometimes, a  granulomatous colitis.
  HPS-3 is especially frequent in Puerto Rico where its prevalence is 1/4 000; moreover fifteen non-Puerto Rican cases have been reported. Only 10 cases of HPS-5 and 25 cases of HPS-6 (including 20 from a Bedouin of Israel tribe) have been described.
  These three forms consist in an ocular or oculo-cutaneous albinism, a decrease in visual acuity with horizontal nystagmus, spontaneous hematomas of the soft tissues, epistaxis and prolonged bleeding after dental extraction, surgery or childbirth. Women may have heavy menses. Kidney failure and granulomatous colitis may complicate the HPS, but no pulmonary fibrosis has been reported in the 3, 5 and 6 forms of HPS.
  HPS-3 is due to mutations of the HPS3 gene (3q24), the HPS-5 to mutations of the HPS5 gene (11p15-p13) and HPS-6 to mutations of the HPS6 gene (10q24.32). The proteins coded by these genes - HPS3 and HPS5, HPS6 - are part of a complex with multiple subunits called BLOC-2, for Biogenesis of Lysosome-related Organelles Complex 2.  HPS-2 is due to a mutation of the AP3B1 gene (complex AP-3) on 15q15 and the HPS-7 to a mutation of the DTNBP1 gene (BLOC-1 complex) on 6p22.3.
  These forms of HPS without lung damage have a favourable evolution.
• 2) Hermansky-Pudlak syndrome complicated by pulmonary fibrosis includes two forms (HPS-1 and HPS-4). In the Northwest of Puerto Rico, the prevalence of HPS-1 is 1/1 800 by founder effect. Other HPS - 1 cases reported in the world are sporadic. The prevalence of the HPS-4 is unknown, but about 20 cases have been reported so far.
  Clinical signs of HPS-1 and HPS-4 are those of HPS. The possible complications are granulomatous colitis and pulmonary fibrosis. Pulmonary fibrosis, the most severe complication of the 1 and 4 forms of HPS, manifests itself in general during the 4th or 5th decade.
  HPS-1 is caused by mutations of the HPS1 gene (10q23.1) and HPS-4 by mutations of the HPS4 gene (22q11. 2 - q12.2). The proteins coded by of these genes are part of a complex multiple subunits called BLOC-3, for Biogenesis of Lysosome-related Organelles Complex 3.
  Lung transplantation is the only treatment known to pulmonary fibrosis linked to HPS-1 and HPS-4. The administration of pirfenidone can slow the progression of the disease, but only in patients with sufficient residual lung function. Corticosteroid therapy is not effective.

Anesthetic implications: 

photophobia, protect the patient's eyes from the bright lights in the operating room; transfusion of platelets (rarely); ventilation problems in advanced forms  with pulmonary fibrosis.

References : 

-         Bahadoran P, Lipsker D. 
Leucodermies. 
EMC- Dermatologie Cosmétologie 2005; 2 : 20-42.

-        Ideno S, Hatori E, Takeda J, Morisaki H. 
Anesthetic management of a patient with Hermansky-Pudlak syndrome undergoing video-assisted bullectomy. 
J Clin Anesth 2015; 27:243-6

Updated: March 2019