What is Histiocytosis
What is Histiocytosis?
Histiocytic Disorders and Rare Diseases – together we will find a cure!

Histiocytosis is an umbrella term applied to a group of rare diseases, characterised by increased numbers of white blood cells called histiocytes in the blood and tissues. In all forms of histiocytosis, these cells, which are part of the protective immune system, begin to attack the body, targeting many organs of the body including the bone marrow, liver, spleen, lungs, skin, bone and brain. The prognosis for patients varies greatly depending on the form of histiocytosis.

There are two main groups.
The first group is called a dendritic cell disorder, and the most common disease in this group is Langerhans Cell Histiocytosis (LCH) previously known as Histiocytosis X. Also included in this group are more rare diseases, juvenile xanthogranuloma (JXG) and Erdheim-Chester Disease (ECD).

Langerhans Cell Histiocytosis, LCH for short, histiocytes called Langerhans cells, which are normally found in the skin, may spread to many organs and damage them, so that the symptoms vary depending on which organs are affected, but skin rashes, destruction of bone, breathing problems and damage to the brain are common.

LCH occurs in children, often during infancy but also in adults. It is usually a chronic disease and may cause severe disabilities due to brain damage. The diagnosis is made by microscopic examination of a tissue specimen obtained by biopsy. The prognosis depends very much on the extent of disease and organs affected, which can be assessed by imaging studies. LCH is thought to be caused by alterations in the DNA of Langerhans cells.

The second group is called a macrophage cell disorder, and includes primarily Haemophagocytic Lymphohistiocytosis (HLH) and Rosai-Dorfman Disease (RD).

How to explain Histiocytosis

How to explain Histiocytosis

Haemophagocytic Lymphohistiocytosis HLH for short. In this disease a virus infection triggers another type of histiocyte, the macrophage, to become over active and attack the body. Red blood cells and other white blood cells are engulfed and destroyed by the macrophages, so that the patient is unable to fight infections.

 

Patients therefore suffer from high fevers, may become anaemic and often have skin rashes, as well as symptoms due to the infecting virus. HLH is an acute and life threatening disease. It frequently occurs in childhood but may occur at any age.

Diagnosis depends on detection of the infecting organism and demonstration of macrophages engulfing other cells as well as other abnormalities of white blood cells, usually in sample of bone marrow. In familial forms of HLH, abnormal genes, which alter white blood cell function, are passed from the parents to children.

Rarer Forms - there are other even rarer forms of histocytosis related to both LCH and HLH and very rarely malignant histiocytosis occurs, which is a leukaemia-like disease of histiocytes.

Please be advised that all the information you read here is not a replacement for the advice you will get from your consultant and their team.

Help ensure that we can continue to bring you this vital informational material, make a donation today


Frequently Asked Questions

Histiocytic Disorders and Rare Diseases

Why are all of these diseases with different names considered to be related to each other?
All of the diseases are caused by the over-production of white blood cells called histiocytes. Their different classifications depend on the type of histiocyte involved.

Where can I find reliable information about histiocytosis?
Histiocytosis UK online community provides a number of informational documents and articles, as well as links to medical articles about the histiocytic disorders. While the Internet does provide a significant volume of information about histiocytic disorders, some of this information is not accurate. It is important to look for documents that are current, are free of grammatical and spelling errors, appear to be objective, are free of advertisements, and clearly state their sources.

How to explain Histiocytosis

How to explain Histiocytosis

How can I explain histiocytosis to family and friends?
Histiocytosis is a rare disease that is caused by the over-production of a type of white cell that can lead to organ damage and the formation of tumors. The Histiocytosis UK FAQ pages are also a great way to help explain these complicated diseases to family and friends.

 

What is Rare Disease?

  • A rare disease is defined by the European Union as one that affects less than 5 in 10,000 of the general population.
  • There are between 6,000 and 8,000 known rare diseases.
  • Around five new rare diseases are described in medical literature each week.
  • 1 in 17 people, or 7% of the population, will be affected by a rare disease at some point in their lives.
  • This equates to approximately 3.5 million people in the UK and 30 million people across Europe.
  • In the UK, a single rare disease may affect up to about 30,000 people.
  • The vast majority of rare diseases will affect far fewer than this – some will affect only a handful, or even a single person in the whole of the UK.
  • 80% of rare diseases have a genetic component.
  • Often rare diseases are chronic and life-threatening.
  • Rare diseases can be single gene, multifactorial, chromosomal or non-genetic.
  • 75% of rare diseases affect children, and 30% of rare disease patients die before their fifth birthday.

Where can I learn more about rare diseases in general?
Rare Disease UK (RDUK) is the national alliance for people with rare diseases and all who support them. www.raredisease.org.uk.
Orphanet – Database/information about rare diseases with translation available in numerous languages. http://www.ojrd.com
Please be advised that all the information you read here is not a replacement for the advice you will get from your consultant and their team.

Help ensure that we can continue to bring you this vital informational material, make a donation today

HLH Newsfeed

pubmed: histiocytosis

NCBI: db=pubmed; Term=histiocytosis

Erdheim-Chester Disease with atrial mass and perinephric calcification.

Clin Case Rep. 2017 Dec;5(12):2153-2154

Authors: Villatoro-Villar M, Koster MJ

Abstract
Erdheim-Chester Disease is a multi-systemic condition characterized by non-Langerhans histiocytic infiltration. Cardiovascular involvement with pseudotumoral infiltration of the right atrium is present in approximately one-third of patients and may be asymptomatic. Although retroperitoneal fibrosis is common, perinephric dystrophic calcification has not been previously described.

PMID: 29225878 [PubMed]

Expanding the Phenotype of ALK-positive Histiocytosis: A Report of 2 Cases.

Pediatr Dev Pathol. 2017 Jan 01;:1093526617740784

Authors: Huang H, Gheorghe G, North PE, Suchi M

Abstract
ALK-positive histiocytosis is a recently described rare histiocytic proliferative disorder of early infancy. When infants present with anemia, thrombocytopenia, and hepatosplenomegaly, this entity should be included in the differential diagnosis along with hemophagocytic lymphohistiocytosis, metabolic/storage diseases, hematopoietic malignancies, and autoimmune thrombocytopenia. We report 2 new cases of ALK-positive histiocytosis, one with kidney involvement and the other with extensive bone marrow involvement in addition to an overt liver disease. Renal involvement by ALK-positive histiocytosis has not been reported. The infiltrating histiocytes in this case showed Rosai-Dorfman disease-like morphology including emperipolesis. The histiocytes in the second case with extensive bone marrow involvement had foamy cytoplasm initially suggesting storage disease. Our 2 cases highlight previously unrecognized diversity of ALK-positive histiocytosis in clinical manifestation, organ involvement, and cytomorphologic features and further elucidate the diagnostic challenges of this rare entity.

PMID: 29224419 [PubMed - as supplied by publisher]

Related Articles

Systemic juvenile xanthogranuloma: a case of spontaneous regression of intramedullary spinal cord, cerebral, and cutaneous lesions.

J Neurosurg Pediatr. 2017 Dec;20(6):556-560

Authors: Morice A, Fraitag S, Miquel C, Rose CS, Puget S

Abstract
Juvenile xanthogranuloma (JXG) is a rare disease that belongs to the non-Langerhans cell histiocytoses. It presents a wide clinical spectrum, usually occurs before 5 years of age, and is commonly confined to the skin; however, it can affect multiple sites, including the nervous system, and can lead to severe disorders. Although JXG is a benign disease that usually regresses spontaneously, several curative treatments have been proposed in cases of organ involvement. Treatment options include corticosteroids, chemotherapy, and radiotherapy; however, these can have severe, long-term adverse effects in children. The authors here describe the first case of spontaneous resolution of an intramedullary spinal cord lesion of JXG associated with cerebral and cutaneous lesions in a young boy with 9 years of follow-up. The initial neurological symptoms resolved without any surgical or medical treatment. This case shows that extracutaneous lesions of JXG, including those with intramedullary spinal cord involvement, can regress without curative treatment-like cutaneous lesions-although both multidisciplinary care and close follow-up should be implemented.

PMID: 28960169 [PubMed - indexed for MEDLINE]

Related Articles

Teenager With Scalp Mass.

Ann Emerg Med. 2017 Mar;69(3):e21-e22

Authors: Thomas VA, Patel B

PMID: 28231999 [PubMed - indexed for MEDLINE]

Related Articles

Heat shock protein-based therapy as a potential candidate for treating the sphingolipidoses.

Sci Transl Med. 2016 Sep 07;8(355):355ra118

Authors: Kirkegaard T, Gray J, Priestman DA, Wallom KL, Atkins J, Olsen OD, Klein A, Drndarski S, Petersen NH, Ingemann L, Smith DA, Morris L, Bornæs C, Jørgensen SH, Williams I, Hinsby A, Arenz C, Begley D, Jäättelä M, Platt FM

Abstract
Lysosomal storage diseases (LSDs) often manifest with severe systemic and central nervous system (CNS) symptoms. The existing treatment options are limited and have no or only modest efficacy against neurological manifestations of disease. We demonstrate that recombinant human heat shock protein 70 (HSP70) improves the binding of several sphingolipid-degrading enzymes to their essential cofactor bis(monoacyl)glycerophosphate in vitro. HSP70 treatment reversed lysosomal pathology in primary fibroblasts from 14 patients with eight different LSDs. HSP70 penetrated effectively into murine tissues including the CNS and inhibited glycosphingolipid accumulation in murine models of Fabry disease (Gla(-/-)), Sandhoff disease (Hexb(-/-)), and Niemann-Pick disease type C (Npc1(-/-)) and attenuated a wide spectrum of disease-associated neurological symptoms in Hexb(-/-) and Npc1(-/-) mice. Oral administration of arimoclomol, a small-molecule coinducer of HSPs that is currently in clinical trials for Niemann-Pick disease type C (NPC), recapitulated the effects of recombinant human HSP70, suggesting that heat shock protein-based therapies merit clinical evaluation for treating LSDs.

PMID: 27605553 [PubMed - indexed for MEDLINE]

Related Articles

Vanishing Bile Duct Syndrome with Hemophagocytic Lymphohistiocytosis After Minimal Change Disease.

Am J Med. 2016 Dec;129(12):e315-e319

Authors: Tey KR, Barrett K, Jain R, Boyer TD, Desai A

PMID: 27316571 [PubMed - indexed for MEDLINE]

Please use the form below to contact Histio UK

When we are out of the office and over holiday periods we have limited access to email and telephone. We will respond to your enquiry as soon as it is possible or upon our return. Thank You.

Telephone: 01733 309619 - Please note this is not a 24 hour number - 9am to 5.30pm

Your Name (required)

Your Email (required)

Subject

Your Message

Please answer the question