Porphyria Care in Grand Rapids, Michigan

Porphyria is an umbrella term for a group of rare metabolic disorders that affect how the body makes heme. Heme is an iron-containing molecule essential for many body functions, especially in red blood cells, the liver, and bone marrow. In porphyria, the body cannot properly convert natural chemicals called porphyrins into heme, leading to a buildup of porphyrins and related substances that can damage the skin, nervous system, and digestive system.

In Grand Rapids and across West Michigan, porphyria is rare, but specialized care is available through major health systems such as Corewell Health (formerly Spectrum Health), Trinity Health Grand Rapids, Metro Health – University of Michigan Health, and Mercy Health.

Who Is Affected by Porphyria?

Research shows that more women than men are affected by certain types of porphyria. In most cases, a combination of genetic factors and environmental triggers leads to symptoms.

There is no cure for porphyria, but in many people, symptoms can be significantly reduced or prevented by:

  • Identifying the specific type of porphyria
  • Avoiding known triggers (such as certain medications or alcohol)
  • Working with a specialist familiar with porphyria management

Residents in the Grand Rapids area can seek evaluation through local hematology, hepatology, neurology, and dermatology clinics, often coordinated through larger hospital systems.

Types of Porphyria

Porphyrias are generally grouped by the main part of the body they affect:

1. Acute Porphyrias (Nervous System)

Acute porphyrias mainly affect the nervous system and often present as sudden “attacks.” These conditions typically appear in adulthood and are rare before puberty or after menopause.

Common acute porphyrias include:

  • Acute Intermittent Porphyria (AIP)
  • Erythropoietic Protoporphyria (EPP)

Symptoms of acute porphyrias may include:

  • Severe abdominal pain
  • Nausea, vomiting, and constipation
  • Muscle pain, weakness, or paralysis
  • Seizures
  • Disorientation, anxiety, or hallucinations
  • Dark or reddish urine
  • High blood pressure (hypertension)

These symptoms can be mistaken for other conditions such as appendicitis, irritable bowel syndrome (IBS), Guillain–Barré syndrome, multiple sclerosis, or psychiatric illness. Because porphyria is rare, many doctors may not immediately recognize it, so it’s important to seek care at a larger center such as Corewell Health Butterworth Hospital or Trinity Health Grand Rapids if symptoms are severe or recurrent.

2. Cutaneous Porphyrias (Skin)

Cutaneous porphyrias mainly affect the skin and not the nervous system. The skin becomes highly sensitive to sunlight, and symptoms are often triggered within minutes to hours of sun exposure—an important concern in Michigan, where people may overexpose their skin on sunny summer days after long winters.

Common cutaneous porphyrias include:

  • Porphyria Cutanea Tarda (PCT)
  • Hepatoerythropoietic Porphyria (HEP)

Symptoms of cutaneous porphyrias may include:

  • Red, itchy, blistered, or painful skin after sun exposure
  • Swelling and tenderness of sun-exposed areas (hands, face, arms)
  • Fragile skin that tears or bruises easily
  • Scarring and changes in skin pigmentation
  • Excess hair growth on affected areas
  • Dark or reddish urine

Cutaneous porphyrias may develop in childhood or adulthood. In Grand Rapids, dermatologists at local clinics and hospital systems can help diagnose and manage these conditions.

3. Neurocutaneous Porphyrias (Skin + Nervous System)

Neurocutaneous porphyrias affect both the skin and the nervous system. They share features of both acute and cutaneous porphyrias.

Common neurocutaneous porphyrias include:

  • Variegate Porphyria (VP)
  • Hereditary Coproporphyria (HCP)

Symptoms may include:

  • Sun-sensitive skin with blistering and scarring
  • Abdominal pain and gastrointestinal problems
  • Muscle weakness, numbness, or paralysis
  • Seizures or mental status changes
  • Dark or reddish urine

Because these conditions can mimic many other disorders, evaluation by a specialist—often at a tertiary center such as Corewell Health in Grand Rapids—is recommended.

How Porphyria Develops

The Role of Heme and Enzymes

Heme is used in many metabolic processes, including:

  • Carrying oxygen in red blood cells (as part of hemoglobin)
  • Supporting liver detoxification
  • Supporting muscle and nerve function

The body makes heme from porphyrins through a multi-step process. Each step is controlled by a specific enzyme.

Genes Control the Enzymes

Genes provide instructions for making these enzymes. In porphyria:

  • An altered (mutated) gene reduces or blocks the production of one or more enzymes.
  • This leads to a shortage of heme and a buildup of porphyrins or related compounds.
  • The buildup causes the signs and symptoms of porphyria, especially in the skin, liver, nervous system, and bone marrow.

Is Porphyria Inherited?

Most forms of porphyria are inherited. The genetic tendency can be passed from one generation to the next.

Common inheritance patterns include:

  • Autosomal dominant inheritance

    • The altered gene is inherited from one parent.
    • It can override the healthy gene from the other parent.
    • Not everyone with the gene will develop symptoms; environmental triggers often play a role.

  • Autosomal recessive inheritance

    • The altered gene is inherited from both parents.
    • Parents may be carriers and not have symptoms themselves.

Even in Grand Rapids families with a strong history of porphyria, not everyone with the altered gene will develop the disease. An environmental trigger is usually needed.

Triggers for Porphyria Symptoms

All known triggers for porphyria involve situations where the body needs to increase heme production. This can “overload” the defective pathway and cause a buildup of porphyrins.

Common triggers include:

  • Medications, such as:
    • Barbiturates
    • Certain sedatives and tranquilizers
    • Some antibiotics
    • Some seizure medications
  • Hormones:
    • Natural female sex hormones that rise at puberty
    • Hormonal contraceptives (oral contraceptive pills, patches, or injections)
  • Lifestyle factors:
    • Alcohol use
    • Cigarette smoking
    • Fasting, crash dieting, or very low-calorie diets
  • Other triggers:
    • Sunlight (particularly for cutaneous and neurocutaneous porphyrias)
    • Infections
    • Surgery and anesthesia
    • Severe stress

Triggers and responses vary between individuals. What causes a severe attack in one person may cause mild or no symptoms in another. In Grand Rapids, where seasonal changes are significant, sun exposure in summer and diet changes in winter can be important factors to discuss with your healthcare provider.

Preventing Porphyria Symptoms in Grand Rapids

General Prevention Tips

Always follow your doctor’s advice, but general strategies to reduce porphyria attacks include:

  • Avoid known triggers:

    • Do not smoke.
    • Avoid or limit alcohol.
    • Avoid crash diets or fasting.
    • Review all medications (including over-the-counter and herbal supplements) with a provider familiar with porphyria.

  • Eat regular, balanced meals:

    • Aim for consistent carbohydrate intake.
    • Avoid long periods without food.
    • This is especially important during long Michigan winters, when activity levels may drop and eating patterns change.

  • Plan ahead for surgery or procedures:

    • Inform your surgeon and anesthesiologist that you have porphyria.
    • Consider wearing a medical alert bracelet or pendant indicating your diagnosis.

Protecting Your Skin in Michigan’s Climate

Even though Michigan has long, cloudy winters, UV exposure can still be significant—especially with reflection from snow and during bright summer days at Lake Michigan or the Grand River.

To protect your skin:

  • Wear sunglasses, a wide-brimmed hat, long-sleeved shirts, and long pants when outdoors.
  • Apply broad-spectrum SPF 30+ sunscreen to all exposed skin, even on cloudy days.
  • Use rubber gloves when handling chemicals or very hot water.
  • Avoid perfumed soaps and harsh detergents that can irritate sensitive skin.
  • Apply barrier creams or protective moisturizers to the hands regularly.

These steps are especially important for people in Grand Rapids who enjoy outdoor activities like hiking, boating, fishing, and winter sports.

Diagnosing Porphyria in Grand Rapids

Because porphyria can mimic many other conditions, a thorough evaluation is essential. Diagnosis usually involves:

  • Physical examination
  • Detailed medical and family history
  • Urine tests to check for elevated porphyrins and related substances
  • Blood tests to measure porphyrins in the plasma
  • Stool tests to look for excreted porphyrins
  • Genetic testing to identify specific gene mutations

In the Grand Rapids area, these tests are often coordinated through:

  • Corewell Health (Spectrum Health) laboratories and specialty clinics
  • Trinity Health Grand Rapids specialty services
  • Metro Health – University of Michigan Health
  • Referral to regional or national porphyria centers when needed

If you suspect porphyria, ask your primary care provider for a referral to a hematologist, hepatologist, neurologist, or dermatologist experienced with rare metabolic disorders.

Possible Complications of Porphyria

Without proper diagnosis and management, porphyria can lead to serious complications, including:

  • Permanent hair loss in affected skin areas
  • Skin scarring and permanent changes in pigmentation
  • Dehydration (often due to vomiting or poor intake during attacks)
  • Breathing problems or respiratory failure (from muscle weakness)
  • High blood pressure (hypertension)
  • Low sodium levels in the blood (hyponatremia)
  • Kidney damage or kidney failure
  • Liver problems, including chronic liver disease or, in severe cases, the need for a liver transplant

Early recognition and treatment at a Grand Rapids hospital can greatly reduce the risk of long-term complications.

Treatment Options for Porphyria

Treatment for Acute Porphyria

Acute attacks are medical emergencies and usually require hospital care. Treatment may include:

  • Pain medication for severe abdominal or nerve pain
  • Hematin (hemin) infusions, a form of heme the body can use to reduce porphyrin production
  • Intravenous (IV) fluids and glucose to stabilize metabolism
  • Treating the underlying cause, such as:
    • Stopping a triggering medication
    • Treating an infection with appropriate antibiotics
    • Managing hormonal triggers when possible

In Grand Rapids, acute attacks are typically managed in emergency departments and inpatient units at major hospitals such as Corewell Health Butterworth Hospital or Trinity Health Grand Rapids.

Treatment for Cutaneous Porphyria

Management of cutaneous porphyrias focuses on reducing porphyrin levels and protecting the skin:

  • Strict sun protection (clothing, sunscreen, shade)
  • Avoiding triggering medications, alcohol, and smoking
  • In some cases, oral activated charcoal may be used to help absorb excess porphyrins in the gut (under specialist supervision)
  • Regular monitoring of liver and kidney function

Dermatologists and hepatologists in the Grand Rapids area can coordinate these treatments and follow-up care.

Genetic Counseling and Porphyria in Grand Rapids

Because most forms of porphyria are inherited, genetic counseling can be very helpful for individuals and families in West Michigan.

A genetic counselor can:

  • Explain how porphyria is inherited
  • Discuss your risk of passing the condition to your children
  • Review available genetic testing options for you and family members
  • Help you understand what a diagnosis means for your child’s health and development
  • Provide emotional support and connect you with support groups

You may consider seeing a genetic counselor if:

  • You have been diagnosed with porphyria
  • Porphyria runs in your family
  • You are planning a pregnancy and want to know your risks
  • You are considering prenatal testing

In Grand Rapids, genetic counseling services may be available through:

  • Corewell Health (Spectrum Health) genetics clinics
  • Trinity Health Grand Rapids clinical genetics services
  • Regional and national networks such as the Genetic Support Network of Michigan and Genetic Alliance

These organizations can often connect you with porphyria support groups across Michigan and the United States.

Local and Emergency Resources in Grand Rapids

If you or someone you know is experiencing a possible acute porphyria attack:

  • Call 911 for emergency medical help.
  • Go to the nearest emergency department, such as:
    • Corewell Health Butterworth Hospital
    • Trinity Health Grand Rapids Hospital
    • Metro Health – University of Michigan Health

For non-emergency help:

  • Your primary care provider (GP)
  • Local clinics affiliated with Corewell Health, Trinity Health, Metro Health, or Mercy Health
  • Kent County Health Department and Grand Rapids Public Health for general health information and referrals

National and state resources (phone numbers and websites may change; check current listings):

  • Porphyria Association / American Porphyria Foundation – education and support
  • Genetic Support Network of Michigan – support and connections to rare disease groups
  • Genetic Alliance (U.S.) – national genetic support network

Key Points About Porphyria in Grand Rapids

  • Porphyria is a group of rare genetic disorders that affect how the body makes heme.
  • Most forms are inherited, but environmental triggers (medications, hormones, alcohol, sunlight, fasting, infections, surgery) are often needed for symptoms to appear.
  • There is no cure, but symptoms can often be prevented or reduced by avoiding triggers and following a personalized treatment plan.
  • Symptoms vary by type and may affect the nervous system, skin, or both.
  • Early diagnosis and treatment at Grand Rapids hospitals and clinics can help prevent serious complications.
  • Genetic counseling is recommended for individuals and families affected by porphyria in West Michigan.

If you live in the Grand Rapids area and suspect you or a family member may have porphyria, talk with your healthcare provider about specialist referral, genetic testing, and local support options.