hereditary desmoid disease

Hereditary desmoid disease, also known as familial desmoid disease or fibromatosis, is a rare genetic disorder characterized by the growth of benign extraintestinal tumors made up of fibrous tissue.

• These tumors can occur in various parts of the body, including the abdominal wall, mesentery, paraspinal muscles, breast, occiput, arms, and lower ribs [6].
• They are often difficult to remove due to their tendency to adhere to surrounding structures and organs [8].
• Hereditary desmoid disease is an autosomal dominant disorder associated with familial adenomatous polyposis (FAP), caused by a mutation in the APC gene [6][10].

The symptoms of hereditary desmoid disease can vary, but they often include:

• The growth of multiple fibromatosis tumors in different areas of the body
• Intraabdominal and extraintestinal manifestations
• Localized aggressiveness and significant morbidity despite being benign

Hereditary desmoid disease is a variant of familial adenomatous polyposis (FAP) characterized by benign extraintestinal growths of fibrous tissue [9][11]. It can occur with or without colonic polyposis, and genetic testing is the only way to definitively confirm a diagnosis of Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene [12].

The average age of diagnosis is 25 when polyps typically become apparent during a colonoscopy.

Hereditary desmoid disease, also known as familial adenomatous polyposis (FAP), is a rare genetic disorder that can cause the growth of multiple desmoid tumors in various parts of the body.

Common signs and symptoms:

• Desmoid tumors: The most common sign of hereditary desmoid disease is the development of one or more desmoid tumors, which are firm and smooth palpable masses.
• Pain and swelling: Symptoms may include pain, swelling, visible deformities, impact on mobility, and pressure on nearby organs affecting their function.
• Abdominal symptoms: Desmoid tumors in the abdomen can cause abdominal pain, nausea, vomiting, and changes in bowel habits.
• Musculoskeletal symptoms: Tumors in the arms and legs can lead to pain, swelling, and limited mobility.

Other possible symptoms:

• Cramping
• Nausea
• Loss of function in the affected area

Age range: Symptoms may begin at any age, but they are more likely to appear during young adulthood.

Hereditary desmoid disease, also known as familial adenomatous polyposis (FAP), can be diagnosed through various diagnostic tests.

• Genetic testing: A simple blood test can determine if you carry the abnormal gene that causes FAP. This test is usually recommended for individuals with a family history of FAP or those who have already been diagnosed with the condition.
• Imaging studies: Imaging techniques such as CT scans, MRI, and ultrasound may be used to evaluate the extent of desmoid tumors and their relationship to nearby structures.
• Biopsy: A biopsy is considered the conclusive diagnostic test for desmoid tumor. It involves taking a small sample of tissue from the tumor, which can then be examined under a microscope.

According to [3], genetic testing may also detect whether you're at risk of complications of FAP. Your doctor may suggest genetic testing if:

• You have family members with FAP
• You have already been diagnosed with FAP

Additionally, as mentioned in [10], genetic testing is a way to see if your genes have any variants that may increase your risk of illness.

It's worth noting that the diagnosis of hereditary desmoid disease can be challenging and may require a multidisciplinary approach. A rare disease expert (as mentioned in [4]) may be necessary for accurate diagnosis and management.

References: [3] - Tests and procedures used to diagnose desmoid tumors include: ... your doctor collects a sample of the tumor tissue and sends it to a lab for testing. [10] - Genetic testing is a way to see if your genes have any variants that may increase your risk of illness. The testing may be done for many reasons, such as before or during pregnancy to look for any disease-causing genetic mutations that could be passed on to a child. [4] - If a diagnosis remains unknown despite extensive evaluation, a rare disease expert may be necessary for accurate diagnosis and management.

Treatment Options for Hereditary Desmoid Disease

Hereditary desmoid disease, also known as familial adenomatous polyposis (FAP), is a rare genetic disorder characterized by the growth of multiple desmoid tumors. While surgery and other local treatments are often used to manage these tumors, drug treatment options have emerged as an effective alternative.

Nonsteroidal Anti-Inflammatory Drugs (NSAIDs)

NSAIDs, such as sulindac and celecoxib, have been shown to be effective in reducing the size of desmoid tumors and preventing their growth. These medications work by inhibiting the production of prostaglandins, which are hormone-like substances that promote tumor growth [5].

Hormonal Therapy

Hormonal therapy, such as tamoxifen, has also been used to treat hereditary desmoid disease. This treatment works by blocking the effects of estrogen on the body, which can help slow down the growth of desmoid tumors [6].

Chemotherapy

In some cases, chemotherapy may be necessary to treat hereditary desmoid disease. Chemotherapy involves using medications to kill cancer cells and prevent their growth. However, this treatment option is typically reserved for more advanced cases or when other treatments have failed [7].

Other Treatment Options

Other treatment options for hereditary desmoid disease include radiation therapy and targeted therapy. Radiation therapy uses high-energy rays to kill cancer cells, while targeted therapy involves using medications that specifically target the genetic mutations responsible for the disease [8].

References:

[5] by A Napolitano · 2020 · Cited by 31 — Systemic therapy options include nonsteroidal anti-inflammatory drugs (NSAIDs), hormonal therapy, cytotoxic chemotherapy (single agent or combinations) and ...

[6] Medical therapies are the recommended second-line treatments for all sporadic desmoid tumors except for abdominal wall tumors and all familial desmoid tumors ...

[7] Treatment. Treatments for desmoid tumors include: ... including your test results, treatment options and, if you like, your prognosis.

[8] Active surveillance (watchful waiting): Some desmoid tumors develop but don’t grow large enough to cause symptoms.If you don’t have symptoms, your provider may simply monitor your health and the tumor.

Hereditary desmoid disease, also known as familial infiltrative fibromatosis, is a rare genetic disorder characterized by the growth of benign but locally aggressive tumors called desmoid tumors. The differential diagnosis of hereditary desmoid disease involves considering other conditions that may present with similar symptoms and characteristics.

Conditions to consider:

• Familial adenomatous polyposis (FAP): A genetic syndrome that causes many colon polyps, which can increase the risk of developing desmoid tumors. [11]
• Gardner syndrome: A rare syndrome that also runs in families and is associated with mutations of the APC gene, similar to hereditary desmoid disease. [9][10]
• Low-grade sarcoma: A type of cancer that may present with similar symptoms to desmoid tumors. [15]
• Benign fibroblastic proliferation: A condition characterized by the growth of benign but locally aggressive fibrous tissue, which can mimic desmoid tumors.
• Reactive processes: Inflammatory or reactive conditions that may present with similar symptoms to desmoid tumors.

Key distinguishing features:

• Hereditary desmoid disease is typically associated with mutations in the APC gene, whereas FAP and Gardner syndrome are also linked to these genetic mutations. [10][11]
• Desmoid tumors in hereditary desmoid disease often occur in the abdominal wall or other extraintestinal sites, whereas FAP and Gardner syndrome may present with intestinal polyps and other symptoms. [12]

Diagnosis and management:

The diagnosis of hereditary desmoid disease is typically made through a combination of clinical evaluation, genetic testing, and histopathological examination of tumor tissue. Management strategies for hereditary desmoid disease often involve surgical resection or other treatments to control tumor growth and prevent complications.

References:

[9] Feb 27, 2019 - In 5% to 10% of cases, desmoid tumors may run in families. Those diagnosed with Gardner syndrome, a rare syndrome that also runs in families, are at increased risk for developing hereditary desmoid disease.

[10] Desmoid tumor symptoms differ based on where the tumors occur. Desmoid tumors most often happen in the abdomen, arms and legs. ... A genetic syndrome that causes many colon polyps. People with familial adenomatous polyposis (FAP) have an increased risk of desmoid tumors.

[11] From OMIM Hereditary desmoid disease usually presents as an extraintestinal manifestation of familial adenomatous polyposis (FAP; 175100), also known as Gardner syndrome, which is an autosomal dominant disorder caused by germline mutation in the APC gene.

[12] Case of a 66-year-old patient with a desmoid tumor of the right musculus deltoideus diagnosed in April 2009 (A); staging in October 2009 demonstrated a spontaneous tumor remission (B).The diagnosis was confirmed by β-catenin mutation analysis with a characteristic S45P mutation in exon 3 of the CTNNB1 gene.. D ifferential D iagnosis of D esmoid T umors. The differential diagnosis of desmoid tumors usually includes low-grade sarcoma, benign fibroblastic proliferation, and reactive processes.

[15] Familial infiltrative fibromatosis, hereditary desmoid disease: Extremely rare, associated with APC mutations: FAP, familial adenomatous polyposis; APC, adenomatosis polyposis coli. ... The differential diagnosis of DT usually includes low-grade sarcoma, benign fibroblastic proliferation, and reactive processes.