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Doctors

Explaining the Different Types of Healthcare Professionals

BHD can be a complicated condition as it has a wide variety of symptoms. This means you may have to see several different types of doctors during your BHD journey. We understand this may be a confusing and overwhelming process, especially when you’ve just been diagnosed with BHD and don’t know where to start. In this toolkit, we break down the different types of healthcare professionals you may come across and when you would see them.

It is important to remember you might not need to see all the different types of healthcare professionals in this list. Who you see will depend on the symptoms you have and your healthcare system. We have tried to make this list as inclusive as possible. Please let us know if we have missed anyone off the list, or if there is another name for the type of doctor in your country. Get in touch with us through our contact form.

Diagnosis

Clinical Geneticist

This type of doctor specialises in the diagnosis and management or treatment of genetic conditions. You may see a clinical geneticist as part of your BHD diagnosis. This may happen before your genetic test or afterward to discuss management of BHD. You may also see a clinical geneticist if a family member has been recently diagnosed with BHD and you are seeking testing. They may also refer you to have scans of your lungs or kidneys. For more information on what happens during a clinical genetics appointment, read our previous toolkit here.

Other names: Medical Geneticist

Genetic Counsellor

A genetic counsellor provides information to individuals and their families about genetic conditions. This can range from information about genetic testing through to family planning and beyond. The Macmillan Cancer Support website has a great page on what to expect during a genetic counselling appointment. Read it here.

Family Doctor

Also known as a primary care doctor or GP (general practitioner) this is often the first person you see for many medical issues. You may see this type of doctor during diagnosis of BHD as they can often refer you to the correct doctor for further testing. As BHD is so rare, they may not have heard of the condition before. It might be useful to take our information leaflet with you to give to your doctor if you think you have BHD. Find our leaflets here. Even if they haven’t heard of BHD, they will still be able to refer you to the correct person based on your symptoms.

Emergency Doctors

One of the major routes for BHD diagnosis is through having a collapsed lung. If you have a collapsed lung, you might end up in the emergency department of your nearest hospital. If you haven’t been diagnosed with BHD but you or a family member have had repeated collapsed lungs (or any other BHD symptoms) it is important to tell your emergency doctors. This may aid the diagnosis of BHD.

Skin

Dermatologist

A dermatologist is specifically trained to diagnose and treat skin conditions. For diagnosis, they may take a biopsy (a small sample) of your fibrofolliculoma and send it to a lab for further testing (see pathologist below). BHD is also associated with other types of skin bumps. Find out more about them here. They are also qualified to perform several techniques to remove the bumps you have. These treatments are usually only temporary as they do not prevent the growth of new bumps. Find an overview of treatment options here.

Lung

Pulmonologist

A pulmonologist specialises in conditions affecting the lungs. They can help manage any lung symptoms of BHD you have.

Other names: Respirologist, Pneumologist

Thoracic Surgeon

If you have been referred for surgical treatment for your lungs, you will see a thoracic surgeon. These are surgeons who specialise in the chest area. Find out more about the different types of lung treatments here.

Kidney

Urologist

A urologist is a doctor who specialises in treating conditions affecting the urinary system, including the kidneys. It is recommended that you get regular kidney scans to identify and treat any kidney cancer as quickly as possible. Urologists are also surgically qualified. If you have kidney cancer and need to have surgery to remove any tumours, a urologist will normally carry out this procedure.

Nephrologist

Unlike a urologist, this type of doctor only treats conditions relating to the kidney and are not surgically trained. You may see a nephrologist instead of a urologist for management of your kidneys.

Oncologist

If you have kidney cancer, you may be referred to an oncologist. Oncologists are highly trained in treating cancer. If you need other treatment for cancer, aside from surgery, they can recommend a treatment plan.

Other

Radiologist

A radiologist is a doctor trained to analyse imaging scans. They will write a report of their findings and send this to the relevant doctor to give you the results. You will not normally see a radiologist.

Radiographer

A radiographer is the person who carries out the scan. They will be who you see when you get a scan of your lung or kidneys and will take you through the process.

Pathologist

A pathologist is a doctor who will examine biopsies and can help in the diagnosis of BHD. They will be able to confirm if a skin lesion is a fibrofolliculoma. They can also diagnose which type of kidney cancer a person has. This can help guide the treatment and management of BHD. You will not normally see a pathologist

Anaesthetist

Anaesthesia is given to an individual for surgery and other medical procedures so they can be carried out safely and without pain. An anaesthetist is trained to provide anaesthesia in these situations. They will monitor you throughout the surgery.

  • Published October 2023
  • Due for review January 2025