What Is LECT2 Amyloidosis (ALECT2)?

ALECT2 Amyloidosis - a silent disease

This short video can help you understand ALECT2 amyloidosis. It includes information on ALECT2 symptoms, diagnosis, and treatment options, and what to do if you think you may have ALECT amyloidosis.

Leukocyte Chemotactic Factor 2 (LECT2) amyloidosis, or ALECT2, is a rare form of renal amyloidosis caused by the buildup of abnormally folded LECT2 proteins in the kidney. Over time this buildup can reduce kidney function and eventually may result in kidney failure.

ALECT2 history, risk factors, and prevalence

ALECT2 was only recently discovered with the first case being diagnosed in 2008. This does not mean that people didn’t get ALECT2 before 2008, only that it was not recognized by doctors before that time.

Although ALECT2 is rare in the general population, it appears to be more common in people of certain ethnicities, including:

  • Hispanic people, particularly from Mexico
  • Punjabi people
  • Sudanese
  • Egyptians
  • Canadian First Nations
  • Native Americans especially in the Southwest USA

This list may increase as we learn more, but so far it has only been observed rarely in caucasian individuals.

In the United States, ALECT2 diagnosis is most common in the southwest, likely due to the higher concentration of individuals with Hispanic ethnicity.

LECT2 amyloidosis symptoms and diagnosis

LECT2 amyloidosis symptoms and diagnosis
(Click to enlarge)

LECT2 is a naturally occurring blood protein. It is only when the protein molecules fold abnormally that the body’s ability to process LECT2 proteins is inhibited, and build up of amyloid fibers occurs.

ALECT2 is for many individuals a ‘silent’ disease, with the first indication of a problem coming from a routine blood test – much like having high cholesterol. Typical symptoms that may appear as the condition gets worse (progresses) include swelling of the legs, feet, ankles, hands or face (called edema), fatigue, and dehydration, all symptoms of kidney disease. For some individuals the progression of ALECT2 disease happens slowly, and symptoms are mild. In some, however, the damage can eventually progress to kidney failure (also known as “end stage renal disease” or ESRD), requiring dialysis or a kidney transplant.

Diagnosis of ALECT2, like all types of renal amyloidosis, requires a kidney biopsy. The initial symptoms of ALECT2 are not those that would usually prompt a doctor to request a kidney biopsy. This means that in many cases a diagnosis of ALECT 2 may be delayed until symptoms are more severe. Perhaps for this reason, many individuals are not diagnosed until middle age or later, although it has been seen in individuals as young as 30.

A physician who suspects ALECT2 would go through the following steps to arrive at a conclusive diagnosis:

1

Assessment of the patient’s medical and family history

2

Thorough physical examination

3

Urine and blood tests

4

Kidney biopsy followed by examination of the kidney tissue by amyloid experts

ALECT2 treatment options and outcomes

The recent discovery of ALECT2 means that there are no specific treatments. Current treatment options focus on supporting kidney function by monitoring and maintaining a good fluid balance. This is achieved through controlling the intake of fluid (drinks) during the course of the day, avoiding salty foods, and taking medicines called diuretics. Individuals with advanced disease (referred to as end-stage renal disease) will need dialysis. The only effective treatment currently available for ALECT2 is a kidney transplant.

Long term outcomes for people with ALECT2 are not yet clear. However in a USA study following 64 individuals with ALECT2 for an average of 2 years, it was shown that kidney function declined slowly in most cases. Approximately 1 in 3 individuals had stable kidney function, and while the rest had reduced kidney function, only approximately 1 in 3 developed end-stage renal disease.

It is important to learn as much as possible about this recently discovered amyloid condition, and research studies such as the REFLECTION natural history study are key in gathering the knowledge necessary to create new treatments for ALECT2.

What to do if you think you might have LECT2-caused kidney disease

The only way to confirm a diagnosis of ALECT2 is with a kidney (renal) biopsy, followed by examination of the kidney tissue by amyloid experts. If you think you may have LECT2 amyloidosis, but do not have a diagnosis, the following questions may help you have a productive conversation with your doctor:

Is renal amyloidosis a possible explanation for my symptoms?

Could my symptoms be consistent with LECT2 amyloidosis?

(If you have had a kidney biopsy):

  • Has my kidney tissue been tested for amyloidosis (e.g. congo red test)?
  • (If yes) Has my kidney tissue been tested specifically for ALECT2 amyloidosis?
  • (If yes) Has another type of renal amyloidosis been identified? (e.g.: AA amyloidosis, AL amyloidosis, ATTR amyloidosis)

(If you have not had a kidney biopsy):

  • Could a kidney biopsy help to definitively diagnose my condition?
  • What is involved in getting a biopsy? What is the process and what are the risks?
  • What are the costs, and will my insurance cover it?

Useful information links:

To help you prepare for a discussion with your doctor, you can download our ALECT2 Doctor Information and Discussion Guide, and take it to your next appointment.