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Disease Information

Summary
A rare acute hepatic porphyria characterized by neurovisceral attacks and, more rarely, skin lesions.
Summary
A rare acute hepatic porphyria characterized by neurovisceral attacks and, more rarely, skin lesions.A rare acute hepatic porphyria characterized by neurovisceral attacks and, more rarely, skin lesions.
Resource(s) for Medical Professionals and Scientists on This Disease:

About Hereditary coproporphyria

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Population Estimate:Fewer than 5,000 people in the U.S. have thisdisease.
  • Symptoms:May start to appear as a Teenager and as an Adult.
  • Cause:This disease has more than one possible cause.
  • Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
  • Categories:Inherited MetabolicdiseasesGeneticdiseasesNeurologicaldiseasesKidneydiseasesGastrointestinaldiseasesSkindiseases

Causes

What Causes This Disease?

Genetic Mutations

Can This Disease Be Passed Down From Parent to Child?

Autosomal Dominant

When Do Symptoms of Hereditary coproporphyria Begin?

Symptoms of this disease may start to appear as a Teenager and as an Adult.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
Prenatal
Before Birth
Newborn
Birth-4 weeks
Infant
1-23 months
Child
2-11 years
Adolescent Selected
12-18 years
Adult Selected
19-65 years
Older Adult
65+ years
Symptoms may start to appear as a Teenager and as an Adult.

Symptoms

The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.

The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):
Digestive System Digestive System

25 Symptoms

25 Symptoms

25 Symptoms

Body Systems

Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).
Medical Term
Description and Synonyms
Frequency
Abdominal pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.

Synonyms:Abdominal pain; Pain in stomach; Stomach pain

Frequency
Uncommon
Very frequent
Very frequent
Always
Abnormal blistering of the skin

The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls.

Synonyms:Abnormal blistering of the skin; Blister; Blistering, generalized; Blisters; Skin bullae

Frequency
Uncommon
Occasional
Occasional
Always
Abnormality of skin morphology

Any morphological abnormality of the skin.

Synonyms:Abnormal skin morphology; Abnormal skin structure

Frequency
Uncommon
Frequent
Frequent
Always
Anemia

A reduction in erythrocytes volume or hemoglobin concentration.

Synonyms:Anaemia; Low number of red blood cells or hemoglobin

Frequency: Not Applicable or Unknown
Frequency
Not Applicable or Unknown
Uncommon
Always
Atypical scarring of skin

Atypically scarred skin .

Synonyms:Atypical scarring; Atypical scarring of skin

Frequency
Uncommon
Frequent
Frequent
Always
Back pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.

Synonyms:Back pain

Frequency
Uncommon
Occasional
Occasional
Always
Cutaneous photosensitivity

An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.

Synonyms:Photosensitive skin; Photosensitive skin rashes; Photosensitivity; Sensitivity to sunlight; Skin photosensitivity; Sun sensitivity

Frequency
Uncommon
Occasional
Occasional
Always
Distal muscle weakness

Reduced strength of the musculature of the distal extremities.

Synonyms:Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles

Frequency
Uncommon
Frequent
Frequent
Always
Episodic vomiting

Paroxysmal, recurrent episodes of vomiting.

Synonyms:Episodic vomiting

Frequency
Uncommon
Frequent
Frequent
Always
Extension of hair growth on temples to lateral eyebrow

A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows.

Synonyms:Unusual hairline with hair growth on temples extending to lateral eyebrow

Frequency
Uncommon
Occasional
Occasional
Always
Facial hirsutism

Excess facial hair.

Frequency
Uncommon
Occasional
Occasional
Always
Fragile skin

Skin that splits easily with minimal injury.

Synonyms:Fragile skin; Skin fragility

Frequency
Uncommon
Occasional
Occasional
Always
Hepatocellular carcinoma

A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver.

Frequency
Uncommon
Occasional
Occasional
Always
Limb pain

Chronic pain in the limbs with no clear focal etiology.

Synonyms:Limb pain

Frequency
Uncommon
Frequent
Frequent
Always
Long hairs growing from helix of pinna

Synonyms:Long hairs growing from helix of ear

Frequency
Uncommon
Occasional
Occasional
Always
Motor polyneuropathy

Synonyms:Peripheral motor neuropathy

Frequency
Uncommon
Occasional
Occasional
Always
Nausea

A sensation of unease in the stomach together with an urge to vomit.

Synonyms:Nausea

Frequency
Uncommon
Frequent
Frequent
Always
Nephropathy

A nonspecific term referring to disease or damage of the kidneys.

Frequency
Uncommon
Occasional
Occasional
Always
Proximal muscle weakness in lower limbs

A lack of strength of the proximal muscles of the legs.

Synonyms:Muscle weakness, proximal, lower limbs

Frequency
Uncommon
Frequent
Frequent
Always
Proximal muscle weakness in upper limbs

A lack of strength of the proximal muscles of the arms.

Frequency
Uncommon
Frequent
Frequent
Always
Psychosis

A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs.

Synonyms:Psychosis

Frequency
Uncommon
Occasional
Occasional
Always
Respiratory insufficiency

Synonyms:Respiratory impairment

Frequency
Uncommon
Occasional
Occasional
Always
Seizure

A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

Synonyms:Epileptic seizure; Seizures

Frequency
Uncommon
Occasional
Occasional
Always
Small intestinal dysmotility

Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes.

Frequency
Uncommon
Occasional
Occasional
Always
Tachycardia

A rapid heartrate that exceeds the range of the normal resting heartrate for age.

Synonyms:Fast heart rate; Heart racing; Racing heart

Frequency
Uncommon
Occasional
Occasional
Always

Diagnostic Journey

On average, it takes more than six years to receive an accurate rare disease diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and you may need to see multiple specialists to reach the correct diagnosis. However, advocating for yourself with your healthcare team may help speed your time to diagnosis. To combat common challenges, be prepared:

  • Find disease-specific information to discuss with your healthcare providers.
  • Ask for diagnostic tests.
  • Request referrals to specialists.

Knowing where to start your diagnostic journey and how to navigate the next steps are critical to speeding your time to diagnosis

Your Diagnostic Team

How can a diagnostic team help?

Establishing care with a dedicated primary care provider (PCP) is an important early step in your rare disease journey. A PCP can help improve care and shorten the time to diagnosis by providing referrals to the appropriate specialists. These specialists, with advanced training in different body systems or types of diseases, can offer the specialized diagnostic procedures you need.

Use this tool by Medicare to find a PCP in your area by inputting your location and keyword "Primary Care Provider."

A PCP that specializes in the care of children is called a pediatrician. Use this tool by the American Academy of Pediatrics to find a pediatrician in your area by inputting your location.
Diagnostic teams for Hereditary coproporphyria may include:
 

Multidisciplinary Care Centers

Is it time to find a multidisciplinary care center?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.



Multidisciplinary Care Centers

Is it time to find a multidisciplinary care center?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but still do not have a confirmed diagnosis, it may be time to visit a multidisciplinary care center. Multidisciplinary care centers are usually teaching, university, or research hospitals that have teams of medical experts and specialists working together in the same location. This means a wide range of diagnostic tests and clinical knowledge are available at one facility, which can help increase communication and collaboration among your care team. The additional resources often available at multidisciplinary centers may help speed the time to diagnosis for rare diseases.




Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. 
Contact a GARD Information Specialist for help finding an expert.

Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis remains unknown despite extensive efforts by your PCP and specialists, it can be challenging to know what kind of expert you may need or where to find one. A rare disease expert is a care provider that has knowledge or training on specific disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals. In complex cases, coordinating with a network of experts can help your care provider find the right diagnosis. 
Contact a GARD Information Specialist for help finding an expert.

 

Find Your Community

How Can Patient Organizations Help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.

View GARD's criteria for including patient organizations, which can be found under the FAQs on our About page. Request an update or to have your organization added to GARD.

Patient Organizations

11 Organizations

Organization Name

Who They Serve

Helpful Links

Country

People With

Hereditary coproporphyria

Helpful Links
Country

United States

People With

Hereditary coproporphyria

Helpful Links
Country

United States

People With

Hereditary coproporphyria

Helpful Links
Country

Mexico

People With

Hereditary coproporphyria

Helpful Links
Country

United States

People With

Skin diseases

Helpful Links
Country

United States

People With

Kidney diseases

Helpful Links
Country

United States

People With

Kidney diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

Participate in Research

Clinical studies are part of clinical research and play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Read More

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.

Last Updated: December 2024