Welcome to the NORD Physician Guide to Homozygous Familial Hypercholesterolemia (HoFH). The NORD Online Physician Guides are written for physicians by physicians with expertise on specific rare disorders. This guide was written by Dr. Dirk Blom, Head of Division of Lipidology, Department of Medicine, University of Cape Town. (see acknowledgements for additional information).
HoFH: The Patient Experience
At age 11, after running laps at top speed in his sixth grade gym class, Jesse Spychalla had a heart attack and later underwent triple coronary artery bypass surgery at Saint Joseph’s Hospital in Marshfield, Wisconsin. Until that happened, Jesse had thought of himself as “a normal kid with no medical issues.”
Testing when he was first admitted to the hospital showed Jesse’s total cholesterol to be 694, as compared to the norm of less than 170. His LDL was approximately 500. Jesse’s family history included an uncle who had died at age 39 and other relatives who had experienced cardiovascular disease while young. After he was diagnosed with homozygous familial hypercholesterolemia (HoFH), Jesse began a treatment regimen that, over the years, included cholesterol-lowering medication and plasmapheresis.
Jesse, who is now 30, responded well to treatment but the need to have pheresis every two weeks limited his career and lifestyle options. Today, treatment is available specifically for HoFH patients that controls Jesse’s cholesterol levels and makes it possible for him to pursue his chosen career of travel nursing. He has also found it helpful to connect with other patients who have this extremely rare disease. “I’ve never been a person to dwell on the bad things in life,” he says. “But meeting other HoFH patients and learning that I am not alone has been very helpful to me.”
HoFH is usually diagnosed in infancy or childhood but occasionally the diagnosis may be delayed until later in life in patients who are not as severely affected as in the description of ‘classical HoFH’ given above.
Diagnosis of HoFH requires a careful clinical, laboratory, and family evaluation followed by molecular genetic testing.
The treatment of HoFH is complex and patients should be referred to a specialized lipid unit that is experienced in the treatment of such patients.
There is a report on the following related topic in NORD’s online Rare Disease Database for patients, families and the public at: