With any chronic health condition, the number-one goal is to have it diagnosed and treated early to prevent it from progressing or causing lasting damage. It makes sense, but that doesn't typically happen when it comes to the painful, little-known skin disease hidradenitis suppurativa (HS). Frustrating fact: It often takes many visits to doctors just to get a correct diagnosis. A multinational survey published in a July 2019 issue of the Journal of the American Academy of Dermatology (JAAD) found that 64% of patients visited five or more physicians before receiving a formal diagnosis of HS. The mean delay in diagnosis? Ten years.
For a condition that causes so much pain along with feelings of embarrassment and isolation, why is HS so often missed?
The simplest explanation: The lumps that appear, typically in areas like the armpits and groin where skin rubs together, may look like something else. "There is still under-recognition of what HS is. It's often mistaken for a routine boil or abscess," explains Victoria Shanmugam, M.D., director of the Hidradenitis Suppurativa Clinic and director of rheumatology at The George Washington University in Washington, D.C.
So what is HS then? It's a chronic, painful, non-contagious skin disease, with a few distinct characteristics, according to the Hidradenitis Suppurativa Foundation:
- Recurrence Boils that return over and over. They typically begin as a single lesion, usually due to a blocked hair follicle and/or inflamed sweat gland, which develops into a hard lump filled with pus. They can progress and form tunnels under the skin, leaving people with painful clusters that seep fluid, according to the National Organization for Rare Disorders. (Important note: HS is not actually rare! It affects 1 in 100 people.)
- Location Characteristic locations for those boils are areas where you have hair and/or sweat glands: the armpit, under the breasts, folds of the stomach, the groin, genital area, buttocks, and sometimes behind the ears and the nape of the neck.
- Symmetry You’ll have symptoms on both sides of your body at the same time.
- Associated conditions HS is commonly associated with other health conditions (called comorbidities) including metabolic syndrome, diabetes, heart disease, polycystic ovarian syndrome, a higher body mass index (though HS can affect a person of any weight), and more.
Whether HS is missed or misdiagnosed, the delay in properly diagnosing this chronic inflammatory skin disorder causes a ripple effect of issues. First, not having a proper diagnosis means ongoing suffering that can shortchange your quality of life. In fact, lesions can make it painful to even walk or lift your arms because they often show up in the groin and armpits.
According to the JAAD study, nearly half of patients report their symptoms have an extreme impact on their life, and nearly 15% say they’re disabled because of it. What's more, misdiagnosis can set the stage for progression of HS and complications, from infection to scarring to depression.
The latest research also suggests that people with HS have an increased risk of developing squamous-cell skin cancer in longstanding HS lesions, notes Jennifer Hsiao, M.D., an assistant clinical professor at UCLA Dermatology.
Why HS Gets Misdiagnosed
Initially, patients with symptoms of HS may see a primary-care physician or an ob-gyn, or go to urgent care or the emergency room to have their painful lesions, which can erupt with pus and bleed, evaluated. If the symptoms are viewed as an isolated incident, patients may receive temporary treatment—lancing and draining of the boil and a prescription for antibiotics—for what seems like a simple abscess, cyst, or boil and sent on their way, without any recommended follow-up care. But eventually, lesions just flare again, often weekly or monthly.
One reason for this lack of awareness: "HS is one of the things that hasn’t made it into the medical school curriculum," says Chris Sayed, M.D., an associate professor of dermatology at the UNC School of Medicine in Chapel Hill. (For the record, HS is a clinical diagnosis that's made by a doctor based on a visual examination of the lesions or lesion patterns on a patient’s skin; no blood test or diagnostic test is available to make the diagnosis. It affects three times as many women as men.)
In other instances, patients themselves may contribute to the delay in diagnosis. "Because HS lesions are often in hidden places on the body like the armpits or the groin, patients may be hesitant to discuss them with a health-care provider or they may hope they'll just go away on their own," Dr. Hsiao says. In some cases, they might—but they will recur.
What Happens When Docs Miss HS
However it happens, a delay in HS diagnosis can compromise someone's social life, sex life, and work or professional life. If HS is poorly controlled, it can lead to more skin pulling and "tunnels" that connect painful, beneath-the-skin lumps. These tunneling tracts in particular can release an odorous discharge that can make an HS sufferer feel reluctant to go out in public.
There's also a risk for scars, which can be hard and appear rope-like. "The longer you have the disease, the more scarring you'll have with recurring lesions, and that's something we can’t reverse," says Martina Porter, M.D., a dermatologist and co-director of the Clinical Laboratory for Epidemiology and Applied Research in Skin (CLEARS) at Beth Israel Deaconess Medical Center in Boston. "The scarring can be really bad, especially in the armpits, under the breasts, in the groin area, under the thighs, and behind the neck and ears." (Support from fellow HS patients can help relieve the resulting emotional burden and isolation HS sufferers feel; a list of in-person and online support networks is available at the site Hope for HS.)
People with undiagnosed or poorly controlled HS may need to have lesions drained if they progress to the point where they impair mobility, or they may need to have surgery to remove a portion of scar tissue. "This is a disease that leads to progression over time if it's not treated effectively," says Dr. Sayed.
Bottom line: Even if your lumps or sores embarrass you, don't delay getting help, or persisting for a proper diagnosis. "If you suspect you have HS [based on what you’ve read about it], it's important to see a physician who's familiar with the condition as soon as possible," says Dr. Sayed. You may be able to find a referral to a specialist near you through the Hidradenitis Suppurativa Foundation. If you can't, Dr. Sayed recommends doing some internet research and printing information about HS, including images, then bringing this to your physician.
Though it can't be cured, the good news is HS is a treatable condition, with a whole range of medicines, including biologics, available to help you manage and reduce flares, so you can focus on living your life. Says Dr. Porter: "We're in a time where we have more treatment options than ever to manage the disease, and the earlier we can diagnose people, the better off they'll be."