Frantisek Hermansky and P. Pudlak were Czech internists who described this disorder in two patients in the mid 20th century. Mutations in at least 8 genes cause virtually identical disorders now called Hermansky-Pudlak syndrome, or HPS.
HPS is a pigmentation disorder similar to that of other forms of albinism but is unique in the association with abnormal bleeding. The skin, hair and eye are lightly pigmented but the degree varies widely. Many patients note that their hair darkens as they grow older. The iris of the eye is often blue in color but may also be hazel. The inside of the eye (retina) also is lightly pigmented and usually has an abnormal formation of the macula which is an area of the retina that we use for the highest visual resolution. As a consequence, visual acuity is usually below normal (but stable) and many patients are legally blind. Nystagmus (‘dancing’ of the eyes), sensitivity to light, and crossing of the eyes (strabismus) are common. Refractive errors such as near-sightedness and far-sightedness are often present.
Prolonged bleeding from nosebleeds, menstrual periods, tooth extraction, and minor surgical procedures is experienced by many. Easy bruisability is also common.
The skin is susceptible to sun damage and skin cancer. Patients may have scarring of the lungs causing breathing difficulties in the third and fourth decades of life. Others experience inflammatory bowel disease such as colitis, or may develop kidney failure and heart disease.
This is a group of disorders rather than one disease since multiple gene mutations are causative. All, however, cause autosomal recessive disease in which normal parents each carrying the mutation contribute both to their child. HPS results when an individual inherits both mutations.
The diagnosis usually requires an ophthalmologist and a hematologist. The diagnosis may be suspected at birth by pediatricians because of the light hair and skin pigmentation. Patients with this diagnosis should always alert their physician and surgeon of the diagnosis to avoid bleeding complications. The most serious threat to longevity is lung scarring although the life of some patients has been extended through lung transplantation. Lifelong monitoring is important.
Glasses are often prescribed to improve vision. Low vision aids can be helpful. Care should be taken to avoid sun exposure whenever possible and aspirin and similar analgesic drugs should be avoided.